karnataka paediatric journal vol. 29, no. 2 april - june

Karnataka Paediatric Journal Vol. 29, No. 2 April - June 2014


Journal of the IAP Karnataka State BranchCONTENTS

1. Rickettsial Fever- An Incidence Study in a Tertiary Care Centre in South India 41Dr. NirmalaVineetha Pinto , Dr. Sudha Rudrappa, Dr. Suresh R.

2. Socioeconomic status among scholastic backward children 45Dr Nagarathna, Dr Anitha S

3. Dyke-Davidoff-Masson syndrome - A curious clinical diagnosis. 49Dr. Mahesh Maralihalli. Dr. Mahantesh Matti

4. A Study of Clinical, Bacteriological Profile And Therapeutic OptionsIn Empyema Thoracis In Children 52Dr Srinivasa, Dr Sreeja Kottapally , Dr Radhana.S , Dr. Shreedhar Murthy.

5. A Preterm Neonate With Ectodermal Dysplasia, Cleft Palate And Entropion 55- A Case ReportDr. Gayathri H A, Dr. Prarthna V Bhardwaj

6. Pentalogy Of Cantrell-A Case Report 57Dr. Madhusudan B S, Dr. Sudha Rudrappa, Dr. Pradeep N, Dr. Praveen kumar, Dr. Chinthan S

7. A simple screening-tool for fetalmalnutrition at birth-A comparative 60study of CANS versus othersDr. Vishwanath Machakanur, Dr. Sudha Rudrappa

8. Jarcho-Levin Syndrome With Sprengel's Shoulder Deformity-A Case Report 64Dr. Jawhar E.A, Dr. Sachin Miraj, Dr. Basanth Kumar, Dr. Suresh Babu P. S,

9. Endobronchial Tuberculosis : A Diagnostic Dialemma 66Dr. Kavitha K, Dr. Mruyhunjaya. S, Dr. Gayathri Hemanth Aradhya

10. Neonatal Varicella- A Case Report 68Dr. Archana MV, Dr. K. Shreedhara Avabratha, Dr. Lokesha R

11. Spectrum : Sturge-Weber Syndrome 70Dr. K. Praveen Kumar, Dr. Sachinmiraj, Dr. Ramesh.H, Dr. Ashwini.R.C, Dr. C. R. Banapurmath

12. Asphyxiating Thoracic Dystrophy- A Rare Skeletal Dysplasia. 74Dr. Mahesh Maralihalli. Dr. Mahantesh Matti.

. EDITORIAL BOARD

Editor in Chief : EditorDr. B. Sanjeev Rai Dr. Sudharshan SE-mail : [email protected] E mail: [email protected]. : 94481-33494 Mob: 9880008471

EDITORIAL OFFICEMedicare Centre, Karangalpady, Mangalore - 575 003

MEMBERS : Dr. Santhosh Soans Dr. Sridhar Avabratha Dr. Kamalakshi BhatDr. Vijay Kulkarnia Dr. Basavaraj Dr.Mahendrappa Dr. G K Gupta Dr.A N TobbiDr. Veerashanker Dr. Amarnath K Dr. Srinivasa S

PAGE No.

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INDAN ACADEMY OF PAEDIATRCSKarnataka State BranchSociety Reg No: EKM – S460-2006-2007

Dr. NARAYANAPPA D. Dr. GHFTAK K.B. Dr. P. SUBBARAOPresident Secretary Treasurer

M:9845112560 M : 9844778712 M :9845872653

Dr. SANTOSH SOANS Dr. KIRAN BALIGA Dr. B. SANJEEV RAIPresident Elect-2015 & Historian Joint Secretary Editor in Chief K.P.J.

M:9886332179 M:9886198991 M:9448133494

Executive Board Members

Bagalkot Dr. Ramesh PattarBangalore Urban Dr. Ravishanker MBelgaum Dr. Tanmaya MetgudBellary Dr. B K SrikanthBidar Dr.Sanjeev BiradarBijapur Dr Sadashiv UkkaliChikkamagalur Dr.Ramesh.M.B.Chitradurga Dr. Basanth PDakshina Kannada Dr. Ashv’rl ShriyanDavangere Dr. Madhu PujarDharwad Dr. FateppurGadag Dr.Shivkumar I ManviGulburga Dr. Rohit BandariHassan Dr. Prasanna KumarHaveri Dr.Anand IngalgaviKodagu Dr. KrishnanandaKolar Dr.ArunKollegal Dr.Sridhar MKoppal Dr. Anand Kumar.Mandya Dr.G K GuptaMysore Dr. Cherak K.B.Raichur Dr. Vijay Sukhani

Address for Correspondence:

Dr. CHETAK. K.B.# 1409, Navagraha Temple Road, K.R. Mohalla, Mysore

Mob. : 9844778712, Email : [email protected]

Shimoga Dr. YateeshTumkur Dr. KumarUdupi Dr. Leslie LewisUttar Kannada Dr Anrita D'Souza.Yadir

Ex . Officio’sDr. Mrs. N.S. MahantashettiDr. Babanna K. Hukkeri

Central IAP Executive Board Members

Dr. Srinivasa S. Mob:9341 288129

Dr. Basavaraja. G.V. Mob:9448 1 53754

Dr. Deepak Chiradoni Mob:9880629906

Zonal Co-ordinators

Bangalore Dr. Venkatachalapathy

Dharwad Dr. Vijay Kulkarni

Gulbarga Dr. M.M. Patil

Davanagere Dr. Madhu Pujar

Mysore Dr. Prashanth S.N.

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RICKETTSIAL FEVER- AN INCIDENCE STUDY IN ATERTIARY CARE CENTRE IN SOUTH INDIADr. NirmalaVineetha Pinto , Dr. Sudha Rudrappa, Dr. Suresh R.

ABSTRACT:

Rickettsial Fever is a zoonotic febrileillness spread by bite of ticks and mites.

This study was done to measure theincidence of rickettsial fever in Pediatricward a tertiary care hospital in Mysore

This study included all childrenbetween the age group 1year to 14 yearswho were admitted in Cheluvamba HospitalMysore from 1st July 2012 to 31st June 2013.The Case records of all children with aclinical diagnosis of rickettsial fever andwho tested positive for Weil Felix reactionwere reviewed. Weil Felix test was done bythe tube agglutination method .A titre of 1/160 and above was considered significant.RGA Scoring system for spotted fever groupof Rickettsial fever was used (Score above 9was taken as positive).Statistical Analysisused was SPSS version 17 for windows anddata analysis was by descriptive analysisand chi square test. In our study a total of13 children (4.56% of viral exanthematousfever) were found to have rickettsial fever.Age ranged from 1 y to 14 years withmaximum incidence below 5 years (46.2%)and male predominance (M:F = 1.6:1). Majorpresenting symptoms were fever (100 % withmean of 8.76 days) and rash (100%),followed by oedema (38.5%),hepatosplenomegaly (21%).

CONCLUSIONS :

Rickettsial fever should to beconsidered in children with presentingcomplaints of fever with rash. A positiveWeil Felix reaction in the presence of clinicalsuspicion and the RGA scoring above 9 canbe regarded as diagnostic for rickettsialfever where facilities for confirmatory testsare not available. Early diagnosis andtreatment is associated with reducedmorbidity and mortality.

KEY WORDS :

Rickettsial Fever, RGA scoring system,Weil Felix reaction.

INTRODUCTION:

Rickettsial Fever is an acute febrilezoonotic illness transmitted by bite of mitesand ticks with varied clinical manifestationspresenting as fever with rash oraccompanied with gastrointestinal,respiratory orcentral nervous systeminvolvement. The main agent causingrickettsial infection in our country isOrientiatsutsugamushi,which is theetiological agent for scrub typhus1.Oftenlabeled as viral 'Exanthematous fever''2.Rickettsial infection can lead onto seriousend organ damage which includespneumonitis, ARDS, acute renal failure,myocarditis, disseminated intravascularcoagulation (DIC)3 and septic shock.4 The

Department of Pediatrics, Mysore Medical College and Research Institute,Mysore.

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presence of Rickettsial fever and itsre-emergence have been established invarious parts of India- Jammu and Kashmir,Himachal Pradesh, Uttaranchal, Rajasthan,Assam, West Bengal, Maharashtra, Kerala,Tamil Nadu and Karnataka.

Diagnosis of the disease is oftenchallenging due to non-availability ofconfirmatory laboratory tests and cost factor.

Diagnosis and confirmation of thisdisease is based on Serological tests likeMicro Immunofluorescence, Latexagglutination, Indirecthemagglutination,ELISA and Immunoperoxidase3 .Goldstandard test for diagnosisisimmunofluorescence assay.

The Weil-Felix (WF) test is based onthe detection of antibodies to variousProteus species which contain antigenswith cross-reacting epitopes to antigens frommembers of the genus Rickettsia. Whole cellsof Proteus vulgaris OX-2 react strongly withsera from persons infected with SFGrickettsiae,and whole cells of P. vulgaris

OX-19 reacts with sera from personsinfected with typhus group rickettsiae.

The OX-K strain of Proteus mirabiliswas demonstrated to agglutinate with serafrom scrub typhus patients5. By the WF test,agglutinating antibodies are detectable after5 to 10 days following the onset ofsymptoms, with the antibodies being mainlyof the immunoglobulin M (IgM) type. Thepoor sensitivity of the WF test is now welldemonstrated but a good correlationbetween the results of the WF test and

detection of IgM antibodies by animmunofluorescence assay (IFA) is oftenobserved.

The RGA scale was devised by RathiGoodmanAghai et al. includes clinical andlaboratory findings in scrub typus6.Totalscore is 35 (25 clinical and 10 laboratory).

TABLE 1 shows the RGA scoring system forspotted fever

Highest accuracy was found at ascore of 14 with a sensitivity and specificityat 96.15 % and 98.84%. A score of 17 had100% specificity and score of 9 had 100%sensitivity

In our study from July 2012 to June2013, 13 children (4.56% of viralexanthematous fever) satisfied our inclusioncriteria. Age ranged from 1 year to 14 yearswith maximum incidence below 5 yearsage group (46.2%) and malepredominance(M:F=1.6:1).

Major presenting symptoms werefever (100 % with mean of 8.76 days) andrash (100%), followed by oedema (38.5%),hepatosplenomegaly (21%).

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TABLE- 2 Observations of the study

available,however it should be correlatedwith clinical features and the RGA scoringsystem can be applied.

The clinical features indicating strongsuspicion for diagnosis includes rashesinvolving palm and soles, edema of handsand soles, hepatosplenomegaly andarthralgia.

The importance of rapid diagnosis isthe prompt response to antimicrobialtherapy and reduced mortality in childrenwith early treatment. The treatment given inour set up was oral doxycycline 4 mg/kg/day7till 3 days after being afebrile, to whichall the children responded and there wasno morbidity.

Delay in diagnosis and treatment hasbeen associated with death and graveneurological sequelae.

On Weil Felix test, 8 children showedtitres = 1:160 for OX2 antigen and 8childrenfor OX-19 antigen = 1:160, while 4childrenshowed titre =1:320 for both the antigens atpresentation 1child showed a titre of 1:640.RGA scores had a median of 14.

DISCUSSION:

This study documents that rickettsialfever is prevalent in Karnataka and needs tobe considered as an essential differentialdiagnosis in children presenting withexanthematous fever. In our study 13children met our inclusion criteria and hada positive Weil Felix test and RGA scoreswere above 9.Incidence being 4.29 % with amale preponderance and maximum in agegroup less than five years. Weil Felix testeven with low sensitivity can be used in aset up where confirmatory tests are not

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REFERENCES

1 Isaac R, Verghese GM, Mathai E et al,Scrub typhus : prevalence anddiagnostic issues in rural southernIndia, Clinical Infectious diseases, 2004Nov, vol 39, pp. 1395 - 1396

2 N.Murali , Swathi Pillai, ThomasCherian et al ,Rickettsial infections inSouth India- How to spot the Spottedfever, IndianPediatrics, 2001 ,vol38:1393-1396

3 Tsay RW, Chang F Y, Seriouscomplications in scrub typhus, Journalof Microbiology, Immunology andInfection, 1998, vol 31(4), pp. 240 - 244

4 Mohd Ashraf, Arshad Farooq,SaikaBashiaet al, Renal failureassociation with scrub typhus, JKScience, 2010 april-june, vol 12 (2).

5 SK Mahajan*, R Kashyap*, A Kanga**,V Sharma**, BS Prasher*, LSPal;Relevance of Weil-Felix Test inDiagnosis of Scrub Typhus in IndiaJAPI o vol. 54 o august 2006

6 Narendra b rathi, *akanksha n rathi,#michael h goodman, and #zubair haghaiRickettsial Diseases in CentralIndia: Proposed ClinicalScoring Systemfor Early Detection of Spotted Feverindianpediatricsvolume 48; November17, 2011

7 David H. Walker, J. Stephen Dumler,Thomas Marrie. Harrison's Principlesof Internal Medicine 18th edition.McGraw-Hill Companies Inc.; 2012.Chapter 174 The Rickettsial Diseases.pp.1407 - 1417

KARNATAKA IAP PRESIDENT ELECTION 2016

Applications are called for the one post of President elect for the year2015 and President for the year 2016,

Eligible candidates are requested to send their nomination in plain paperwith duly proposed and seconded to

Dr. N. S. MAHANTH SHETTY ,

A/11/1, Staff Qrts,

JNM Medical College, Belagavi 590010.

Mob: 9448157237

Nominations to be sent on or before 30 Sept. 2014 by registered post

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SOCIOECONOMIC STATUS AMONG SCHOLASTICBACKWARD CHILDRENDr Nagarathna, Dr Anitha S

Dept of Pediatrics, Yenepoya Medical College, Mangalore - 575018

ABSTRACT

The present study compares influenceof socioeconomic status on scholasticbackwardness of children from rural andurban background.

The research collected data fromstudents belonging to both rural and urbanschools by administering a questionnaire to223 students. Students were selected basedon a systematic random sampling methodand belonged to the age group 6 to 12years. Questionnaire was provided toteachers included demographic details andquestions related to their perceived level ofscholastic capability. The data collected weresubjected to statistical analysis using SPSSsoftware.

The study showed that there is asignificant association between SES andacademic achievement among urban andrural children (p<0.001) while the boysdisplayed higher prevalence of scholasticbackwardness compared to girls.

CONCLUSION:

A significant relationship betweensocioeconomic class and scholasticbackwardness among urban and rural wasobserved.

KEY WORDS :

Scholastic backwardness, Academicachievement, Socio economic status, urban,rural Children, India.

INTRODUCTION

In today's competitive world,academic underachievement of children is asignificant concern among parents andteachers. Scholastic backwardness in termsof poor academic achievement or repeatedfailure in grades is being increasinglyrecognized as one of the important problemsin children . Recent studies conducted inthe past recorded the prevalence ofscholastic backwardness in Indian schoolchildren ranges between 20 -60% (1-2)which alarms the society as a whole. Inaddition, the scholastic difficulties have beenassociated with school absence , poorconcentration, poor school functioning ,adverse family conditions , father'soccupational status and large family size(3). Among different factors, socio-economicstatus (SES) was found to be associatedmore strongly as shown consistently inprevious studies. A disadvantaged childbecause of social or cultural factorsincluding social class or poverty was likelyto possess less or poor knowledge, attitudeand skills required for the school systemwhich in turn makes adjustment difficultand impedes learning .

Several studies conducted amongschool students in the past have showed apositive relationship between SES andacademic achievement .High SES was foundto associate with high achievementaccording to Sharma . This was due to theassumption that the high SES families are

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presumed to be highly educated than theircounterparts . It is also ben observed thatstudents belonging to upper SESsignificantly scored better academicachievement than lower status. In additionto the SES background, researchers havealso conducted with specific reference tosub-cultural groups showing that theeconomically disadvantaged showed poorachievement than the advantaged children .In general, these studies imply that apartfrom SES of the children, families living inrural and urban communities, on average,are poorer than their suburban counterparts.Thus, it is important to account thesedifferences when comparing scholasticachievement of children.

Although the previous studiesdocumented the role of socio-economic statusand cultural impact on academicachievement, but all these studies have beenconducted in the year of early eighties.(4)There was a significant change from thepast in terms of academic skills such asreading, writing and numeric due to theseveral changes such as urbanization, roleof technology especially internet revolutionand globalization. Hence, these findingsperhaps may not be applicable to today'sscenario. Furthermore, a recent study byKamble and Takpere assessed the scholasticbackwardness among third grade studentsbut the study did not account the SES.Hence, with this background the presentstudy was conducted to assess the impactof location on (rural or urban area) onscholastic achievement. In addition, thestudy also determines the impact of both afamily's socioeconomic status on child'sacademic achievement.

MATERIALS AND METHODS

A cross-sectional study withdescriptive research design was conducted

at five rural and five urban schools ofMangalore, India to ensure that both socio-economic statuses were included in thepresent study (5).

2nd standard to 7th standard schoolchildren from each area (urban and ruralwere taken up for studies. Questionnaireswere administered to each student whichcontained demographic questions,socioeconomic status and questions relatedto students' perceived scholastic level. Thescholastic backwardness was assessedbased on Rutters Proforma A, and gradesobtained in the previous two examinations.SES of scholastic backward childrenassessed by modified Kuppuswamy scale.

RESULTS

In total 106 from rural and 117scholastic backward children from urbanarea were participated in the study. Table 1presents the demographic characteristics ofthe children participated in the study.

Table 1 : Descriptive statistics fordemographic profile of the children

Location Total Chi-square

value

Rural Urban(n=106) (n=117)

Sex 0.095 0.757

Girls 42(39.6%) 44(37.6%) 86(38.6%)Boys 64(60.4%) 73(62.4%) 137(61.4%)

Total 106(100.0%) 117(100.0%) 223(100.0%)

Age group 3.694 0.158<= 9 50(47.2%) 42(35.9%) 92(41.3%)

10 - 11 30(28.3%) 46(39.3%) 76(34.1%)

>=12 26(24.5%) 29(24.8%) 55(24.74%)Total 106(100.0%) 117(100.0%) 223(100.0%)

Medium of

instruction 100.339 0.001English 0 (0.0%) 74 (63.2%) 74 (33.2%)

Kannada 106 (100.0%) 43 (36.8%) 149 (66.8%)

Total 106 (100.0%) 117(100.0%) 223 (100.0%)

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The findings revealed that there is nosignificant difference in the gender and agegroup between urban and rural. However,majority of the students belong to Englishmedium in urban while none in rural andthese differences found to be significant(p<0.001). Thus, medium of instructionvaries according to the location.

Table 2: Prevalence of scholasticbackwardness children based on Socioeconomic status and Location betweenurban and Rural

Socioeconomic Location Totalstatus

Rural Urban

Upper 0 1 1

0.0% 0.9% 0.4%

Upper Middle 2 32 34

1.9% 27.4% 15.2%

Lower middle 28 56 84

26.4% 47.9% 37.7%

Upper lower 50 28 78

47.2% 23.9% 35.0%

Lower 26 0 26

24.5% 0.0% 11.7%

Total 106 117 223

100.0% 100.0% 100.0%

The Table 2 presents the prevalenceof scholastic backwardness among urbanand rural within different socio-economicstatus. It is clearly observed that prevalenceof scholastic backwardness was higher inrural, particularly in lower (24.5%) andupper lower (47.2%) socio economic statusgroup while this was 23.9% in upper lowerand none in lower SES in urban location.Further, interestingly the findings alsorevealed that 0.9% (n=1) children hadscholastic backwardness in urban while thiswas none in rural, especially in upperincome group. Thus, the prevalence was

higher within in lower socioeconomic stratapresented in rural area than in urban area(p<0.001), which further implies that there isa significant association between thesocioeconomic status and location.

DISCUSSION

A number of factors contribute toscholastic backwardness of student. Thesefactors can be external which areenvironmental or psychological problemsfaced by students. Factors affectingscholastic achievement of students includebelow average intelligence, physicalillnesses,attention deficit hyperactivitydisorder, learning disorders, family supportand school factors (6). In this study, a totalsample size of 223 students of age 6 to 12years were investigated of which 106students were from rural area and 117students were from urban area. Thescholastic ability of students who belongedto different socioeconomic class wereanalysed based on data collected throughquestionnaire. The different socio economicclasses taken into consideration were upperclass, upper middle class, lower middleclass, upper lower middle class and lowerclass. The present study has analysed therelationship between socioeconomic statusand students in rural and urbanbackground.

The frequency of scholasticbackwardness among rural students wasgreater than urban students. Mishra and inhis studies observed that there issignificant correlation betweensocioeconomic status and academicachievement among students. The presentstudy is line with the previous study wherea significant positive association betweenSES and academic achievement amongurban and rural students were observed.Contradicting to these results, Narang (5)did not find any relationship between SESand academic achievement among both

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rural and urban school students. Further, arecent research suggests that there is astrong correlation between socialbackgrounds; geographic location andnumeracy ability of students indicating thatsocioeconomic background affectmathematical skills of students (7). However,this difference could be because Mishra didnot differentiate between rural and urbanschool students. Further, no significantrelationship between socioeconomic classand scholastic backwardness was observedbetween urban student population andrural student population. The resultobtained in the present study is similar toKasthuria , Girijia who have showed asignificant impact of SES on academicachievement among urban and ruralstudents on an average, are poorer thantheir suburban counterparts. In this study,scholastic backwardness was still persistentin upper socioeconomic status group buthigh percentage of scholastic backwardnesschildren in urban area belong to lowermiddle and upper middle group.

In addition, scholastic backwardnesswas found to be less prevalent among girlsin the sample population compared to boys.This result is different from a study thatshowed that boys exhibited higherperceived self competency compared to girlsamong a Caucasian population . Thisdifference could be due to difference inethnicity and cultural differences. Thepresent study took into consideration asample population that received twodifferent medium of instructions - Kannadaand English, of which most students learntlessons in Kannada medium. All Englishmedium students belonged to the urbanpopulation. This discrepancy may also be areason for difference in prevalence noted ascompared to previous studies.

CONCLUSION

The study concludes thatsocioeconomic status does influencescholastic backwardness & the impact is

more on rural children . However, there arecertain limitations to this study: The studyemployed a small sample size and focusedon a small region which questions thegeneralizability of the results. Timeconstraint was a primary limitation for thisstudy and hence failed to employ differentmethods of measuring scholastic levels ofstudents. Future research should thereforeemploy a larger sample size with diversepopulation.

REFERENCES1. Kamble VS, Takpere AY. A Study to Assess

Scholastic Backwardness In Third StandardStudents At An Ashram School In NaviMumbai. International Journal Of PharmaAnd Bio Sciences.2013; 4(2):1154 - 1161.

2. Karande S, Kulkarni M. Poor schoolperformance. Indian journal of pediatrics.2005 Nov; 72(11):961-7. PubMed PMID:16391452.

3. Esser G, Schmidt MH, Woerner W.Epidemiology and course of psychiatricdisorders in school-age children--results ofa longitudinal study. Journal of childpsychology and psychiatry, and allieddisciplines. 1990 Jan;31(2):243-63. PubMedPMID: 2312652.

4. Roberts S, Mohammed S, Vaughn S.Reading Achievement across ThreeLanguage Groups: Growth Estimates forOverall Reading and Reading Sub skillsObtained with the Early ChildhoodLongitudinal Survey. Journal of EducationalPsychology. 2010; 102(3): 668-686.

5. Hebbal M, Ankola AV, Vadavi D, Patel K.Evaluation of knowledge and plaquescores in school children before and afterhealth education. Dental research journal.2011 Oct; 8(4):189-96. PubMed PMID:22135690. Pubmed Central PMCID: 3221086.

6. Mogasale VV, Patil VD, Patil NM,Mogasale V. Prevalence of specific learningdisabilities among primary school childrenin a South Indian city. Indian journal ofpediatrics. 2012 Mar; 79(3):342-7. PubMedPMID: 21887581.

7. Jorgensen R, Lowrie T. Socio-EconomicStatus And Rurality As Scholastic Mortality:Exploring Failure At Mathematics.2013.Available from: http:/www.mes7.uct.ac.za/Jorgensen %20_ % 20Lowrie_Paper.pdf

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DYKE-DAVIDOFF-MASSON SYNDROME - A CURIOUSCLINICAL DIAGNOSIS.Dr. Mahesh Maralihalli. Dr. Mahantesh Matti

Dept of Pediatrics, SDM College of Medical Sciences and Hospital, Dharwar 580009Email: [email protected]

ABSTRACT:

A 14 year old male child presentedwith status epilepticus, upper motor neurontype of hemiparesis witn ipsilateral facialweakness, microcephaly. Child had globaldevelopmental delay with motor milestonesmore delayed than mental milestones. CT ofthe brain revealed features suggestive ofDyke-Davidoff-Masson syndrome.

KEY WORDS:

Dyke-Davidoff-Masson syndrome,cerebral hemiatrophy, hemiparesis

INTRODUCTION:

D y k e - D a v i d o f f - M a s s o n s y n d r o m e(DDMS) refers to cerebral hemiatrophy,which is a consequence of an injury to thebrain during fetal period or earlychildhood (1). Its typical radiologicalfeatures are skull vault thickening(compensatory), elevation of the petrousridge, hyper pneumatization of the frontalsinus (also ethmoidal and mastoid air-cells),ipsilateral falcine displacement. The cause ofhemiatrophy may be capillarymalformations(2), hemispheric infarction etc.

These children present with seizures,poor school performance, facial asymmetry,spastic hemiplegia. There also can beaffection of sensory system and psychiatricsymptoms(3). The typical clinical features

are seen in adolescents and adults (4).However, it can also be seen in children (5).We present a 14-year-old male child withtypical clinical and imaging features ofDDMS.

CASE REPORT :

14 year old male, only child born to anon-consanguineously married couple,presented with uncontrolled seizures since2 hours to emergency. Child was treated likestatus epilepticus, seizures controlled afterloading with Inj Phenytoin. Past historyrevealed child was born by full term normalvaginal, hospital delivery. Baby criedimmediately after birth, birth weight was 3kg. Post natal period was uneventful. Hewas discharged after 3 days. Child hadglobal developmental delay, motor delaywas more affected than mental mile stones.Presently child is being able to walk andrun but with weakness on right half of thebody. School performance is poor with mildmental retardation. Examination revealedstable vitals, microcephaly, right sided uppermotor neuron type of hemiparesis withipsilateral facial weakness. Other cranialnerves examination was normal. There wereno neurocutaneous markers. Vision andhearing was normal. Other systems werenormal. Plain 128 Slice MDCT Scan of theBrain was performed with 5 mm thickness

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axial slices which revealed old infarct withgliosis in left fronto-parietal regions withresultant exvacuo dilatation of ipsilaterallateral ventricle, mild calvarial thickening ofright parietal bone, hyper-pneumatization ofleft frontal sinus, mild hypoplasia of leftpetrous apex. These features are consistentwith Dyke Davidoff mason syndrome. Hewas discharged with oral valproic acid andwas given physiotherapy. Child is seizurefree till now, 2 months after discharge.

DISCUSSION:

It was initially described by C.GDyke, L.M Davidoff and C.B Masson in1933 (6). This syndrome is based onclassical features on neuroimaging andtypical clinical features. Its radiologicalfeatures are compensatory skull vaultthickening, hyperpneumatisation of frontalsinus,petrous ridge elevationandipsilateralfalcine displacement (7).Clininal features are spastic hemiparesis,facial weakness, mental retardation andseizures. There can be problems of speech,learning disabilities etc.

The radiological findings occur as aresult of an insult to the growing brain. Asbrain does not grow properly, there occurswideneing of diploic spaces, sinuses enlargeand petrous ridge elevation (8). Infections,ischaemia, trauma, tumor, hemorrhage,vascular anomalies that can result in thesemanifestations.

In our case, child presented to us at14 years of age with symptoms that werenoticed since 1 year of age. Child was notproperly evaluated and diagnosed till now.Probably child might have suffered an insultto brain during fetal stage with

radiological evidence of infarct in brain.Child has spastic hemiparesis, mentalretardation, facial asymmetry and seizures.

Differential diagnosis consideredwere hemiplegic cerebral palsy, basal gangliagerminoma and Rasmussen encephalitis.Detail history, physical examination andclassical neuro-radiological findings confirmdiagnosis (7).

These patients need multidisciplinarytreatment. Aggressive control of seizures ismust to ensure good outcome. Thesechildren need continued long term followups in speech therapy and physiotherapy.Multiple anticonvulsants may have to beused sometimes to control seizures. Surgicalintervention of choice in intractable seizuresis hemispherectomy. Absence of intractableseizures and onset of hemiparesis after 2years are good prognostic factors (9).

Figure 1 : plain CT showing Old infarctwith gliosis in left fronto-parietal regionswith resultant exvacuo dilatation ofipsilateral lateral ventricle. . Hyper-pneumatization of left frontal sinus.Mildhypoplasia of left petrous apex.

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REFERENCES:

1. Sharma S, Goyal l, Negi A, Sood RG,Jhobta A, Surya M. Dyke-Davidoff-Masson Syndrome. Ind J RadiolImag.2006;16:165-6.

2. LoreaB.JuanJGP.AnnaDR.et.all.FacialCapillary Malformation and Dyke-Davidoff-Masson Syndrome. PediatricNeurology Volume 43, Issue 3,September 2010, Pages 202-204

3. Ono K, Komai K, Ikeda T. Dyke-Davidoff-Masson Syndrome manifestedby seizure in late childhood: A casereport. J ClinNeurosci. 2003;10:367-71

4. Singh P, Saggar K, Ahluwalia A. Dyke-Davidoff-Masson Syndrome: Classicalimaging findings. J PediatrNeurosci.2010;5:124-5

5. Narain NP, Kumar R, Narain B. Dyke-Davidoff-Masson Syndrome. IndianPediatr.2008;45:927-8

6. Dyke CG, Davidoff LM, Masson CB:Cerebral hemiatrophy with homolateralhypertrophy of the skull and sinuses.SurgGynecolObstet 57:588-600, 1933SurgGynecolObstet (abstract)

7. Rao KC. Degenerative diseases andhydrocephalus. In: Lee SH, Rao KC,Zimmerman RA, editors. Cranial MRIand CT. New York: McGraw-Hill; 1999.pp. 212-4.

8. Parker CE, Harris N, Mavalwala J.Dyke-Davidoff-Masson Syndrome: Fivecase studies and deductions fromdermatoglyphics. ClinPediatr.1972;11:288-92.

FORM IV

1. Place of Publication : Mangalore2. Periodicity of its Publication : Quartterly3. Printerís Name : Dr. B. Sanjeev Rai

Nationality : IndianAddress : Medicare Centre, Mangalore - 575 003

4. Publisherís Name : As aboveNationalityAddress

5. Editorís Name : As aboveNationalityAddress

6. Name and address of individuals who : The Journal is owned byown the Newspaper, partners and/or The Indian Academy of PediatricsShare holders, holding more than Karnataka State branch,one percent of the total capital Medicare Center, Mangalore - 575003

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A STUDY OF CLINICAL, BACTERIOLOGICAL PROFILEAND THERAPEUTIC OPTIONS IN EMPYEMA THORACISIN CHILDRENDr Srinivasa, Dr Sreeja Kottapally , Dr Radhana.S , Dr. Shreedhar Murthy.

Dept of Paediatrics, Kempegowda institute of medical sciences and research centre,V V puram , Bangalore.Dr [email protected]

ABSTRACT :

Childhood empyema is an importantcomplication of bacterial pneumonia andhas significant morbidity and mortality.There are no standard guidelines formanagement of empyema thoracis.Themanagement remains controversial in termsof duration of antibiotic therapy and theindications for and timing of surgery. Thisstudy emphasizes that in tertiary carecentres ,VATS can be preferred over medicaltherapy in appropriate cases for themanagement of empyema thoracis.

INTRODUCTION :

Childhood empyema is an importantcomplication of bacterial pneumonia andhas significant morbidity and mortality. Theaim of treatment is to ensure rapid recoverywith a normal long term pulmonaryoutcome. Medical therapy includes use ofantibiotics and chest tube drainage .Newermodalities of treatment includes earlyprimary surgical intervention calledVATS(Video Assisted Thoracoscopic Surgery)which is associated with lower mortality,lesser ICD days, and reduced incidences ofreintervention. There are no standardguidelines for management of empyemathoracis.The management remainscontroversial in terms of duration ofantibiotic therapy and the indications forand timing of surgery. This studyemphasizes that in tertiary care centres,VATS can be preferred over medical therapyin appropriate cases for the management ofempyema thoracis.

METHODS

This was a descriptive clinicalevaluation study conducted over a periodof 20 months.All children between 1 monthto 15 years who were admitted withempyema were included in the study.Thediagnostic criteria was presence of pus onthoracocentesis and if pleural fluid isnonpurulent ,a positive gram stain / apositive culture.Patients with transudativecauses of pleural effusions, postsurgicalempyema ,posttraumatic empyema andimmunodeficiency were excluded.

A detailed history with emphasis onduration of symptoms was taken andexamination done.Later chest X ray andUSG (if required) were done.In all clinicallysuspected cases a diagnostic thoracocentesiswas performed and the obtained fluid wassent for analysis.Routine investigations weredone in all cases.

Patients with severe distressunderwent immediate ICD and those whowere not, were managed with a stepwiseapproach.Those diagnosed to have nonloculated empyema on USG

underwent ICD.ICD tube sizes wereselected based on child's age and fluidviscosity .Initially they were started on IVamoxicillin-clavulanic acid and amikacin.IfStaphylococcal pneumonia wassuspected,vancomycin infusion wasgiven.Appropriate antibiotics were addedaccording to culture sensitivity reports.

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Chest X ray was done after ICDinsertion to confirm the position of thetube.Daily bedside examination was done tocheck for vitals,air entry & ICD tubepatency.Whenever blockage wassuspected,intercostal tube wasreadjusted.Chest physiotherapy was startedat the earliest.All of them were encouragedto blow balloons /use incentive spirometryfor good lung expansion.ICD was removedwhen the drainage was less than 50ml/daywith clinical & radiologicalimprovement.Children with persistentsymptoms,incomplete lung expansion onICD & antibiotics,multiple loculations &thick pleural peel on USG on admission/developed any time during their hospitalstay were subjected to surgical line ofmanagement.Thoracoscopic breaking ofloculi was done in patients with minimalloculations & no thick peel,whereasthoracotomy & decortications was done forthose with multiple loculations & thickpeel.Appropriate antibiotics were given for aminimum of 4-6 weeks.Patients weredischarged after confirming good lungexpansion & absence of fever.

All the patients were followed upafter 1 & 3 months,and were assessed forlung expansion & chest wall deformities.

RESULTS

During the study period 40 patientswere evaluated, with 17 (42.5%) in the agegroup of 1-4 yrs. Male to female ratio was1.5:1. 31 patients(77.5%) belonged to thelower socioeconomic group. Prevalence wasmore during October to March i.e winter tospring(57.5%). Fever & cough were noted inall patients.23 patients presented with rightsided & 17 with left sided empyema .Hurried breathing was seen in 72.5% cases.Patients presented to the hospital with amean duration of 11 days since the onset ofsymptoms. Pneumonia was predisposing

factor in 38(95%) of cases. Pyogenic liverabscess rupturing into the pleural cavitywas responsible in 2(5%) of cases. Anemiawas present in 28 patients(70%). ESR waselevated in 75% cases & repeat ESR doneafter 2 weeks was normal in all cases.Bloodculture was positive in 7.5% cases,whichgrew Streptococcus Pneumonia. Chest Xray showed hydrothorax in 38(95%) &hydropneumothorax in 2(5%) patients.Ultrasonography of the chest revealedmultiloculated empyema in 27, unloculatedcollection in 10(25%).One patient had apneumatocele. Diagnostic pleurocentesisshowed pus in 35 pts & 5 had seropurulentcollection. The reported rate of identifyinginfective organisms in pleural fluid was22.5%, commonest organism beingStaphylococcus Aureus. . Most of thecultures were resistant to Ampicillin,Penicillin & Gentamicin. Staphylococcusaureus was sensitive to Vancomycin (100%),Cefuroxime (75%), Cloxacillin (50%).Patientswho were culture positive were younger(2.05 yrs vs 5.04 yrs), were moremalnourished (44.4% vs 38.7%,) had highercomplication (1/9 vs 2/31), anddecortication rate( 3/9 vs 6/31 ) whencompared to the culture negative group.One patient in the culture negative groupdied. More than 50% of cases requiredsurgical management at time of admission.19(47.5%) cases had primary VATS &3(7.5%) required secondary VATS due topoor lung expansion & persisting fever withloculations. 9 patients(22.5%) required openthoracotomy . Pus drained ranged from 50ml to 1000 ml. Lung expansion occurred atan average of 7 -12 days in most patients. 1patient died due to severe sepsis. All 39patients were followed up after discharge at1 & 3 months.35 patients had good lungexpansion,3 had pleural thickening & 1had persistent collapse .Most of the patientswere asymptomatic & had good lungexpansion.

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Tube ThoracotomyThoracoscopic Debridement

The average 16 days 8 daysnumber ofICD daysThe average 18 days 10 dayslength ofhospital stay

DISCUSSION

This study in children at a tertiarycenter found that empyema thoracis is morecommon in younger patients. A higherincidence of empyema has been reported inundernourished children(1,2).

In our study, the average number ofICD days was 16 with tube thoracotomyand 8 for thoracoscopic debridement.Theaverage length of hospital stay was 18 dayswith tube thoracostomy as against 10 dayswith VATS .

The management of primaryempyema continues to be controversial.Instage 1 empyema with no loculations,antibiotics with tube thoracostomy wouldsuffice,but in stage 2 empyema there is achanging trend towards VATS in a tertiarycare hospital.

VATS was first used for treatingempyema in children in 1993,as resuemeasure following failure of therapy withantibiotics & closed chest tubedrainage(3).Since then, it has been suggestedas primary therapy for parapneumonicempyema in children(4).

Early VATS provides aneffective,singular procedure that combinescessation of the progression of theparapneumonic process,removes the infectedpleural material,allows maximal lungexpansion and function, with reduced painand morbidity and a shortened hospitalstay(5).Complicated empyemas will requirethoracotomy and decortications.

Cohen et al(6) compared outcomesfollowing the introduction of primary VATSin 21 children with atleast stage 2 empyemawith a historical control group treated bychest drainage alone.There was a significantreduction in days in hospital (7.4 vs 15.4)and chest tube drainage(4 vs 10.2) in theVATS group.Furthermore,39% of patientstreated with chest drain only requiredfurther surgical intervention ,compared withnone with VATS group,suggesting thatVATS is superior to chest drain alone.Chenet al,Karaman et al ,Eroglu ,Kercher et al,Doski et al(7) have all reported that earlythoracoscopic debridement is effective andavoids need for surgical intervention.

Emphasis should be laid onminimizing the duration of hospital stay tobring down expenditure,psychological stressand more importantly nosocomial infectionsdue to multidrug resistant organisms.Thus forappropriate patients, when facilities for VATSare available, VATS should be preferred.REFERENCES:

1. Satpathy SK,Behera CK,Nanda P.Outcomeof parapneumonic empyema.Indian JPediatr.2005;72:1979.

2. Yilmaz EE,Dogan Y,Aydinoglu AH,GurgozeMK,Aygun D.Parapneumonic empyema inchildren:conservative approach .Turk JPediatr.2002;44:134-8.

3. Kern JA,Rodgers BM:Thorascopy in themanagement of empyema in children.JPediatr Surg 1993;289:1128-32.

4. Kercher KW, Attori RJ,HooverD.Thoracoscopic decortications as a firstline therapy for pediatric parapneumonicempyema.a case series.chest 2000;118:24-7.

5. guidelines for surgical treatment ofempyema and related pleural diseases:intternationa pediatric endosurgery group(IPEG) Guidelines October, 2002.www.ipeg.org/education/guidelines/emp.

6. Cohen G, Hjortdal V,Ricci M et al. Primarythoracoscopic treatment of empyema inchildren.J Thorac cardiovasc Surg 2003; 125: 79 -84.

7. Avansino JR ,Goldman B,Sawin RS.Operative versus non operative therapyfor pediatric empyema:A Meta analysis .Pediatrics 2005;115;1652-165

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A PRETERM NEONATE WITH ECTODERMAL DYSPLASIA,CLEFT PALATE AND ENTROPION-A CASE REPORTDr. Gayathri H A, Dr. Prarthna V Bhardwaj

Dept of Pediatrics JJM Medical College, Davangere

A 3hr old preterm female baby, bornout of a non-consanguineous marriage, ofbirth weight 1.75kg delivered via naturalis,presented to us for low birth weight care.Baby had large areas on denuded skininvolving the anterior aspect of the legs andforearms. Physical examination of the scalprevealed alopecia with crusting and scaling. Her fingernails and toe nails were not welldeveloped. Both eyelid margins were turnedinwards (entropion) and eyelashes wereabsent. Eyebrows were also absent. She hada widened nasal bridge and low set ears.The lower lip was found to be moreprominent than the upper lip. (fig 1) Babywas found to have a cleft palate.Examination of the cardiovascular systemrevealed a systolic murmur.

Infant's mother denied febrile illnessand usage of any drugs during pregnancy.She underwent regular antenatal check-ups.The mother was diagnosed witholigohydramnios prior to delivery of thebaby. There is no similar case in the family.

An ECHO of the baby revealed aPatent DuctusArteriosus measuring 2mm.The baby was diagnosed with Hay-Wellssyndrome without ankyloblepharon basedon the clinical manifestations. Over the next2 weeks, baby developed multiple episodesof sepsis as evident from the positive septicwork up and the persistence of the umbilicalstump at the end of 15 days, which

required intravenous antibiotics. The neonateremained clinically stable. Fluids and broadspectrum antibiotics were administeredintravenously. The denuded skin hasslightly improved with emollients. She wasdischarged at 17 days of life and is doingwell on follow up.

Fig-1

DISCUSSION

Hay Well's Syndrome was firstdescribed in 1976[1] as an autosomaldominant condition. This syndrome affectsboth males and females of all ethnicbackgrounds. It is not known exactly howoften it occurs. It is characterized byAnkyloblepharon, ectodermal dysplasia andcleft palate with or without cleft lip.Ectodermal defects include hair loss, absentor dystrophic nails, inadequate perspiration,widely spaced teeth andpalmoplantarkeratoderma. Other associatedanomalies include lacrimal duct atresia,supernumerary nipples, syndactyly and

55


auricular deformities. It is rarely, associatedwith cardiac defects like Ventricular Septaldefect or Patent ductusarteriosus. One studyhas suggested the association of thissyndrome with genitourinary abnormalitiesand renal failure. [2] Intelligence is usuallynormal. Although these patients have apartial capacity to produce sweat fromfewer glands so that hyperthermia is not aserious threat, heat intolerance iscommon.Since Hay-Wells syndrome ispresent from birth, diagnosis is based onthe physical appearance of an infant oryoung child.[1] Various reports have beenpublished describing newborn infants withHay-Wells syndrome who were erroneouslydiagnosed with epidermolysisbullosa due tothe presence of erythroderma and extensiveareas of erosion. In association with theclassic characteristics of this syndrome, skinerosion in the newborn infant and therecurrent scalp infection, are important signsthat aid in the differential diagnosis withthe other forms of ectodermal dysplasia.[3]

One study has suggested that HWS iscaused by heterozygous missense mutationsin the p63 gene located at 3q27, which giverise to amino acid substitutions in the sterilealfa motif domain (SAM)[4,5]

As this syndrome is an inheritedgenetic disorder, treatment focuses on thesymptoms present. Bacitracin ointment andmupirocin 2% ointment for skin lesions isrequired.[6] Surgery can be done to correctcleft palate. Speech therapy may benecessary because of cleft palate and/ormissing teeth. Early ophthalmologicevaluation of lacrimal duct is required.Genetic counselling will be helpful for theindividual and family affected by Hay-Wells

syndrome. The importance of regularmultidisciplinary follow up should also bestressed upon.

REFERENCES

1. Hay RJ, Wells RS. The syndrome ofankyloblepharon, ectodermal defects,and cleft lip and palate: An autosomaldominant condition. Br J Dermatol1976;94:277-89.

2. Mohan D, Sugathan DK, Railey M,Alrukhaimi M. Renal failure in Hay-Wells syndrome. Saudi J Kidney DisTranspl 2013;24:1214-6

3. Tsutsui K, Asai Y, Fujimoto A,Yamamoto M, Kubo M, Hatta N. Anovel p63 sterile alpha motif (SAM)domain mutation in a Japanese patientwith ankyloblepharon, ectodermaldefects and cleft lip and palate (AEC)syndrome without ankyloblepharon. BrJ Dermatol. 2003;149:395-9.

4. Fete M, vanBokhoven H, Clements SE,et al. International research symposiumon Ankyloblepharon-EctodermalDefects-Cleft Lip/Palate (AEC)Syndrome. Am J Med Genet 2009;149A:1885-93.

5. Fomenkov A, Huang YP, Topaloglu O,Brechman A, Osada M, Fomenkova T,et al. P63 alpha mutations lead toaberrant splicing of keratinocyte growthfactor receptor in the Hay-Wellssyndrome. J Biol Chem.2003;278:23906-14

6. Mancini AJ, Paller AS. What syndromeis this.Ankyloblepharon-ectodermaldefects-cleft lip and palate (Hay-Wells)syndrome? PediatrDermatol.1997;14:403.

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PENTALOGY OF CANTRELL-A CASE REPORTDr. Madhusudan B S, Dr. Sudha Rudrappa, Dr. Pradeep N, Dr. Praveen kumar,Dr. Chinthan S

Dept of Pediatrics, Mysore Medical College and Research Institute, Mysore.

ABSTRACT :

Pentalogy of Cantrell is a rare entityof congenital defects involving theabdominal wall, sternum, diaphragm,pericardium and heart which is due todeficient fusion of lateral folds of embryo. A22 yr old mother delivered a still born babywith Pentalogy of Cantrell at Cheluvambahospital Mysore.

INTRODUCTION :

The incidence has been estimated tobe 1 in 65,000-100,000 live births(1,2). It isdescribed as a deficiency of the anteriordiaphragm, a midline supraumbilicalabdominal wall defect, a defect in thediaphragmatic pericardium, variouscongenital intracardiac abnormalities, and adefect of the lower sternum. This iscausally heterogeneous. Cantrell suggestedan embryological development failure of asegment of lateral mesoderm also called as"cephalic fold defect"(3).

CASE REPORT :

A 22 yr old lady, gravida two motherwith 34 weeks of gestation presented withpain abdomen and bleeding per vagina.Ultrasonography showed multiple complexanomalies in fetus, including defect inanterior abdominal wall and sternum, withectopia cordis and absent diaphragm. Shedelivered spontaneously a stillborn pretermbaby, which had a large vcntral midlinedefect in thoracoabdominal wall withomphalocele and a part of liver protruding

out through the midline gap along with amyelomeningocele, kyphotic deformity andclub foot. Patient attenders did not giveconsent for autopsy and hence furtherevaluation could not be done.

Kyphotic Deformity Omphalocele

Sternal Defect Myelomeningocele andClub

DISCUSSION :

Pentalogy of Cantrell was firstreported by Cantrell et al. (4) in 1958. J RCantrell (1958) described the syndrome,consisiting of supraumbilical wall defect,defect of the lower sternum, deficiency ofthe anterior diaphragm, defect of thediaphragmatic pericardium and cardiacanomaly.

57


The syndrome occurs with variousdegrees of severity from incomplete to severeexpression with involvement of other organsystems. The etiology of the pentalogy is notwell established. A widely-accepted theory,which was proposed by Cantrell et al.,(4)stated that developmental failure of themesoderm in early embryonic life between14 and 18 days of gestation results in afailure in the development of the transverseseptum of the diaphragm, and of theventromedial migration of the pairedmesodermal folds of the upper abdomen.

Congenital defects of the sternum mayvary from simple notching of themanubrium and irregularities in the shapeof the xiphoid to absence of the entiresternum(5). Abdominal wall defects includeomphalocoele, diastasis recti, epigastrichernia, umbilical hernia,and combineddefects. The most common abdominal walldefect is omphalocoele(1). Deficiencies of thediaphragmatic pericardium and the anteriordiaphragm are common defects. Sometimes,they are too small to be noted. Cardiaclesions may vary widely. Cantrell et al.(4)stated that congenital intracardiac anomaliesare consistent elements of the pentalogy,with ventricular septal defect in every case(100%), atrial septal defect in 53%,pulmonary stenosis in 33%, tetralogy ofFallot in 20% and left ventriculardiverticulum in 20%.In a collective review byToyama(6), including 36 cases of pentalogyof Cantrell reported from 1772 to 1970,additional defects included head and facialdeformities, meningocele, anencephaly, cleftlip, cleft palate, lung hypoplasia, adrenalaplasia, malrotation of the colon, hernia of

the bowel into the pericardial cavity,undescended testicle, and deformities offinger and foot. Toyama WM (1972)described it in three categories

Category 1 : exact diagnosis with fivedefects present

Category 2 : probable diagnosis, with fourdefects (including intracardiac and abdominal walldefects) present.

Category 3 : incomplete diagnosis, withcombination of defects wheresterna defect is alwayspresent.

Our case is an incomplete form ofPentalogy of Cantrell with anhydramnios,kyphotic deformity, intrabdominal cyst,myelomeningocele and club foot.

CONCLUSION :

Pentalogy of Cantrell is a spectrum ofcongenital anomalies, from fatal to nonfatal,that must therefore be adequately evaluatedfor appropriate prenatal counseling andpostnatal management of individual cases.When the diagnosis pentalogy of Cantrell issuspected, a multidisciplinary approach isessential. These cases needs extensivecorrective surgeries and they may developcardio respiratory compromise followingsurgeries, especially in complete forms.Toyama (6) demonstrated a survival rate of20% in this disorder including its variantsand incomplete syndromes. The completepentology has a poorer outcome, and thesurvival rate was only 5/59 (8.5%) in thereport of Fernández et al.(7).

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REFERENCES:

1. Bhat RY, Rao A, Muthuram -. CantrellSyndrome In One Of A Set OfMonozygotic Twins. Singapore Med J2006;47:1087-8.

2. Ondero?glu L, Baykal C, Tulunay G,Talim B, Kale G.Prenatal diagnosis ofCantrell's pentalogy: a case report.TurkJ Pediatr 2003;45:357-8.

3. Jay L. Grosfield, James A. O'Neill JR,Pediatric Surgery 6th edition volume-1,pg.no.1158-1168.

4. Cantrell JR, Haller JA, Ravitch MM. Asyndrome of congenital defectsinvolving the abdominal wall,sternum, diaphragm, pericardium, and

heart. Surg Gynecol Obstet 1958;107:602-14.

5. Chaukar AP, Mandke NV, Mehta SS,Pandey SR, Parulkar GB, Sen PK.Surgical correction of absent sternumwith homologous rib graft.J PostgradMed 1980;26:180-5.

6. Toyama WM. Combined congenitaldefects of the anterior abdominal wall,sternum, diaphragm, pericardium, andheart: a case report and review of thesyndrome. Pediatrics 1972;50:778-92.

7. Fernández MS, López A, Vila JJ, LlunaJ, Miranda J. Cantrell's pentalogy.Report of four cases and theirmanagement.Pediatr Surg Int1997;12:428-31.

Instructions to ContributorsThe Karnataka Pediatric Journal, the official publication of the Indian Academy of

Pediatrics, Karnataka State branch is published four times a year. The Journal solicits articlesfrom the members of the Academy and also persons interested in furthering PediatricKnowledge. The Journal will publish articles on different facets of Pediatrics. Original articles,review articles, brief reports, case reports and also work done by the graduates are welcome.

The Journal will also cover proceedings of seminars, CME programs, workshops andconferences on Pediatrics in Karnataka State.

Preparation of Manuscript: The entire manuscript should not exceed 5-6 type writtenpages. Brief reports and case reports should not exceed 2 type written pages. References shouldbe restricted to recent 10-12 for original article and 4-5 for case reports or shortcommunications.

We request all the contribution to follow the style of Indian Pediatrics while submittingtheir articles for publication.Each part of the manuscript should be on a new page in thefollowing manner.

Title page,Abstract,Text,Acknowledgement,References.Table should be typed separately must have title.Diagrams should also betitled.2 photographs (glossy print, 5. x 7.) is printed free of charge, additional photographs are

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accepted for publication.All articles should be sent by both Softcopy and hard copy toThe Editor in ChiefKarnataka Pediatric Journal, Mangalore.575 003.Email: [email protected]

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Dept of Pediatrics, Mysore Medical College and Research Institute,Mysore

A SIMPLE SCREENING-TOOL FOR FETAL- MALNUTRITION ATBIRTH-A COMPARATIVE STUDY OF CANS VERSUS OTHERSDr. Vishwanath Machakanur*, Dr. Sudha Rudrappa

ABSTRACT

OBJECTIVE : to assess the fetalmalnutrition (FM) in term newborns usingClinical assessment of nutritional status(CANS) and comparing with other availablemethods.6

STUDY DESIGN: cross sectional study

METHOD :

225 full term neonates delivered atCheluvamba Hospital attached to MMC &RI, Mysore were taken up for study,birthweight, length, mid arm circumference(MAC) and head circumference (HC) wererecorded in the newborns. ponderal index(PI), wt/GA, MAC:HC ratio and MAC werecalculated. Clinical assessment of nutritionalstatus was done on the basis of CAN scoreand compared with other methods.

RESULTS :

Total 225 neonates studied withmale:female ratio of 1.1 :1. CANS found45.7% (103) neonates with FM. Wt/GA wasmore sensitive (98.06) and correlatingstatistically (p=0.000) with FM detected byCANS. FM detected by PI, MAC:HC ratioand MAC were less correlating and lesssensitive to that of CANS (sensitivities =86.40%, 51.45%, 50.48% respectively).

CONCLUSION:

CANS being a simple clinical-tool, candetect FM without aid of any sophisticated-equipment in term-neonates which aremissed by other methods.

CANS can be used as a screening-tool in resource-limited settings of Indiaeffectively.

KEY WORDS:

CANS, fetal malnutrition, ponderalindex, IUGR, SGA.

The incidence of low birth weight(<2500 grams) is still high in India (30%),as compared to the developed countries (5-7%). It is critical to screen and interveneearly because of its high mortality and longterm sequelae in neonates. Fetalmalnutrition (FM) is a clinical state ofobvious intrauterine loss or failure toacquire normal amounts of subcutaneous fatand muscles (first described by Scott andUsher).

METHOD:

This study was done over one monthperiod of June 2013 and included 225 fullterm neonates, delivered at CheluvambaHospital attached to MMC&RI, Mysore.

Inclusion criteria:

Liveborn singleton neonates with >35weeks gestational age (GA)

Known GA (LMP, new Ballard score orObstetrical ultrasound if done)

No major congenital malformations

All babies born in the study periodwere weighed with electronic weighingmachine and weight was recorded. Otheranthropometric assessments were done at

60


24-48 hour of life. Length of each baby wasmeasured using infantometer. Mid armcircumference (MAC) was measured withthe help of a non stretchable tape on leftarm. Head circumference was recorded.CAN scoring was done for each baby.

Based on standard intrauterine-growth-curves (Wt/GA), neonates wereclassified into small and appropriate forgestational age (SGA, AGA respectively).Weght for gestational age (wt/GA) wasestimated for each baby in terms of SGA orAGA using standard intrauterine growthcurves. Ponderal index was calculated usingformula [weight(grams)/Length(cm)3 ×100].Values of <2.2 were taken as intrauterinegrowth retardation (IUGR). MAC/HC ratio<0.27 was taken as FM. MAC value <8.6cmwas taken as FM. CANS (FM if <25 score)was considered standard and comparedwith other methods.

TABLE 1: The Nine Signs for ClinicalAssessment of Nutritional (CAN) Status in theNewborn (Fig. l)(10).1. Hair

Large amount, smooth, silky, easily groomed(4). Thinner, some straight, "staring" hair (3).Still thinner, more straight, "staring" hairwhich does not respond to brushing(2).Straight "staring" hair with depigmentedstripe (flag sign)(l).

2. CheeksProgression from full buccal pads and roundface(4), to significantly reduced bucal fatwith narrow, flat face(l).

3. Neck and ChinDouble or triple chin fat fold, neck notevident (4); to thin chin. No fat fold, neckwith loose, wrinkled skin, very evident (1).

4. ArmsFull, round, cannot elicit "accordion" foldsor lift folds of skin from elbow or tricep area(4); to a striking "accordion" folding oflower arm, elicited when examiner's thumband fingers of the left hand grasp the armjust below the elbow of the baby and thumband fingers of the examiners right handcircling the wrist of the baby are movedtowards each other; skin is loose and easilygrapsed and pulled away from the elbow.

5. Legs -Like arms.6. Back

Difficult to grasp and lift skin in theinterscapular area(4); to skin loose, easilylifted in a thin fold from the interscapulararea (l).

7. ButtocksFull round gluteal fat pads (4); to virtuallyno evident gluteal fat and skin of thebuttocks and upper posterior high loose anddeeply wrinkled (l).

8. ChestFull, round, ribs not seen(4); to progressivelyprominence of the ribs with obvious loss ofintercostal tissues(l).

9. AbdomenFull, round, no loose skin(4); to distended orscaphoid, but with very loose skin, easilylifted, wrinkled and "accordion" foldsdemonstrable.

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Table 1: comparison of CANS with Wt/GA.

CANS Total P value

FM No FM

Wt/GA SGA 101(98%) 2(1.6%) 103 0.000

AGA 2 (2%) 120 (98.4%) 122

Total 103(100%) 122(100%) 225(100%)

Table 2: comparison of CANS with PI

CANS Total P value

FM No FM

PI IUGR 89 (86.4%) 2(1.6%) 91 0.000

No IUGR 14 (13.6%) 120 (98.4%) 134

Total 103(100%) 122(100%) 225(100%).Table 3: comparison of CANS with MAC:HC ratio.

CANS Total P value

FM No FM

MAC/HC FM 53 (51.5%) 3(2.5%) 56 0.000radio

No FM 50 (48.5%) 119 (97.5%) 169

Total 103(100%) 122(100%) 225(100%)

RESULTS :

Out of 225 babies with sex ratio of1.1:1, CAN scoring identified 103 babies(45.7%) as having fetal malnutrition (FM)and 122 (54.3%) as not with FM. Babiesanalyzed with wt/GA using standardcharts, two were not identified as havingsmall for gestational age (SGA) which wereidentified as having FM by CANS. Ponderalindex (PI) could identify only 89 babies ashaving IUGR out of babies who werescreened to be having FM by CANS. MAC:HC ratio identified only 53(51.5%) babies ashaving FM out of 103 babies of FMscreened by CANS. MAC found only52(50.48%) babies as having FM out of 103babies with FM screened by CANS.

If we considered CANS as a standardtool to screen for FM, all other methodscould not overtake or equate the fetalmalnutrition detection rate of CANS.

Sensitivity of other methods, withCANS as standard were 86.4% for PI,51.445% for MAC:HC ratio and 50.48% forMAC. Out of them Wt/GA was moresensitive to detect FM in trerms of SGA andcorrelated well with CAN score wthstatistical significance (p<0.01).

CONCLUSION:

Hence, CAN Scoring being a simpleclinical-tool, can detect FM without aid ofany sophisticated-equipment in term-neonates which are missed by other

62


methods and can be used as a screening-tool in resource-limited settings of Indiaeffectively. Limitations of our study were: asmall sample size and needed further largersample size. Risk factors for IUGR were notincluded in the study, which may contributeto the conclusions.

REFERENCES:

1. Mehta S et.al. ;Clinical assessment ofnutritional status at birth; IndianPediatrics; volume 35, May 1998,p422-428.

2. Singhal V et.al. ;Detection of fetalmalnutrition by CAN Score at birthand its comparison with othermethods of determining intrauterinegrowth; Indian Journal of ClinicalPractice, Vol. 22, No. 11, April 2012.

3. Kashyap L et.al.; detection of fetalmalnutrition by clinical assessment ofnutritional status score (can score) atbirth and its comparison with othermethods of determining intrauterinegrowth; Vol 3 Issue 1 Art # 1.

4. Sankhyan N et.al; Detection of FetalMalnutrition Using "CAN Score";Indian Journal of Pediatrics, Volume76-September, 2009; p903-906.

5. Sharma JN, Saxena S, Sharma U.Standard curves for mid armcircumference and mid arm/head

circumference ratios in newborn.Indian J Pediatr 1990 May-Jun;57(3):389-93.

6. Golebiowska M, Ligenza, Kobierska I,et al. Use of mid arms and headcircumference to estimate gestationalage and nutritional status of thenewborn. Ginekol Pol 1992May;63(5):221-6.

7. Sharma JN, Saxena S, Sharma U.Standard curves for mid armcircumference and mid arm/headcircumference ratios in newborn.Indian J Pediatr 1990 May-Jun;57(3):389-93.

8. Meadows NJ, Till J, Leaf A, Hughes E,Jani B, Larches V. Screening forintrauterine growth retardation usingratio of midarm circumference tooccipitofrontal circumference. Br Med J(Clin Res Ed) 1986 Apr19;292(6527):1039-40.

9. Kumari S, Jain S, Sethi GR, Yadav M,Saili A, Lal UB. A simple method ofscreening for intrauterine growthretardation. Indian J Pediatr1988;55:283-6.

10. Martinez A et.al.;Abnormalities of fetalgrowth; Avery's diseases of Newborns;p-33-46

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JARCHO-LEVIN SYNDROME WITH SPRENGEL'SSHOULDER DEFORMITY-A CASE REPORTDr. Jawhar E.A, Dr. Sachin Miraj, Dr. Basanth Kumar, Dr. Suresh Babu P. S,

Dept of Pediatrics, JJM Medical College, Davangere, Karnataka.

INTRODUCTION

Jarcho- Levin syndrome is anautosomal dominant or recessive traitaffecting segments of vertebra and anomaliesof ribs.Clinically they present as chest walldeformities, short neck, short trunk andscoliosis. Jarcho-Levin syndrome has twosubtypes 1) spondylothoracicdysostosis[STD] and 2) spondylocostaldyostosis[SCD]1.

CASE REPORT

A 5 month old female child,3rd bornto a non-consanguinously married couplepresented with respiratory distress.Onexamination child had short neck,low hairline,hemangioma on the nape of neck,lowset ears,pectuscarinatum,left nipple athigher level,abdominal protuberance,laxskin,left scapula at higher level andscoliosis.

Chest X Ray showed left scapula ata higher level,scoliosis of thoracicspine,fused upper ribs on left side andthoracic hemivertebrae.USG abdomenshowed left hydronephrosis.ECHO wasnormal.

Patient was treated with antibioticsand other supportive measures . Childimproved and discharged on 7th day ofadmission.

Fig 1 : short neck ,pectuscarinatum ,leftnipple at higher level

Fig 2 : low hair line,haemangioma at napeof neck,elevated left scapula

Fig 3 : scoliosis of thoracic spine, fusedupper ribs on left side and thoracic

hemivertebra

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DISCUSSION

Jarcho and Levin described thisdisorder in 19382.This syndrome describeda spectrum of radiological and skeletalabnormalities, rib deformities and shorttrunk dwarfism.Solomon et al subdividedpatients into 2 clinical phenotypes:spondylothoracicdysostosis (STD) andspondylocostaldysostosis (SCD).STD hasbilateral fusion of ribs at costovertebraljoints ,segmentation and formation defects ofvertebra throughout the spine givingclassical 'crab- like' or 'fan-like' appearanceof the thorax.They are prone for pneumonia, restrictive lung disease with pulmonaryhypertension and congestive cardiac failure.SCD is characterised by intrinsic ribanomalies such as broadening,bifurcationand assymetric fusion ,usually withoutsevere thoracic impairment and betterprognosis.Occasional abnormalitiesassociated with Jarcho-Levin syndrome iscleft palate,hernias,hydronephrosis andneural tube defects.3

Association of Jarcho-Levin syndromewith Sprengel's shoulder deformity is rarelyreported in literature4.In this patient leftscapula was at higher level.The non-descent of scapula might be due tosegmentation arrest of somites resulted inSprengel'sdeformity.Notch signallingpathway has important role in thesegmentation and somitogenesis5.

These patients are prone forrecurrent pulmonary infection and

respiratory insufficiency secondary to thesmall thoracic volume.These childrenshould be monitored for growth&development,respiratory function andspinal curvature4.Chest Physiotherapy hasan important role in conservativemanagement. Surgical interventions mightbe required in severe scoliosis.

REFERENCES

1. SolomonL,Jimenez R B,Reiner L.Spondylothoracicdysostosis: report oftwo cases and review of theliterature.ArchPathol Lab Med1979;102:201-5

2. Jones L K.Smith's recognisable patternsof human malformation 2006;6thedition:690-691

3. Chiu W K,Kwok K M.A child withjarcho-Levin syndrome.Journal ofpaediatric respirology and critical care2009;5:8-13.

4. Vi j a y a n S , S h a h H . S p o n d y l o - c o s t a ldysostosis with sprengel's shoulder-Report of a new association withJarcho-levinsyndrome.Kerala journal oforthopaedics 2012;25:103-104.

5. J van Aalst,J S H Vles,ICuppen,D ASival,E H Niks,L W Van Rhijn,M A MVan Steensel,E M J Cornips.Sprengel'sdeformity and spinal dysraphism:connecting the shoulder and the spine.Child's Nervous System 2013;7:1051-1058.

Dr. H. Paramesh

Represented Rajiv Gandhi University of Health Sciences in the Review meetingon Preventive Health programme in Geneva Switzerland held on May 19th to 25th

Participated on Dengue Fever, Air Pollution.

He also participated in childrens Rights on environmental health organised byHuman Rights Commission of Head quarters of United Nation.

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ENDOBRONCHIAL TUBERCULOSIS : A DIAGNOSTICDIALEMMADr. Kavitha K, Dr. Mruyhunjaya. S, Dr. Gayathri Hemanth Aradhya *

Dept Of Pediatrics, J. J. J. M. Medicalcollege.2969, 6th Main, M.C.C-B-Block, Opp. Swimming Pool, Davangere. 577004

ABSTRACT

Endobronchial tuberculosis (EBTB) isthe tubercular infection of the tracheo-bronchial tree. It is a relatively uncommondetected manifestation of a common diseaselike tuberculosis and its incidence variesfrom 10% to 40% in patients with activetuberculosis and usually described in youngindividuals (1).

KEY WORDS:

Chronic cough, Endobronchialtuberculosis, mediastinal shift.

INTRODUCTION:

Endobronchial tuberculosis a specialtype of pulmonary tuberculosis, withincreasing incidence. The tracheobronchialstenosis may cause intractable tuberculosisand make patients become chronicinfectious source of tuberculosis, or mayeven cause pulmonary complications andresult in death.(2)

Baby S A 1yr old boy resident ofDavangere presented to out patientdepartment with history of cough(nonspasmodic) and hurried breathing for3months, fever for 6days and withsignificant weight loss of 1-2Kg in last3months, No history suggestive of foreignbody aspiration.On examination there wasincreased respiratory rate(40-50/min)nomediastinal shift,impaired note heard on

percussion over left lung field,Onauscultation there was diminished air entryin the left lung field and occasional rhonchiin the left lung.

Chest x-ray revealed hyperinflation ofleft lung,(fig 1)with these findings Foreignbody aspiration in the left main bronchuswas diagnosed Provisionally. PPD reactionwas measuring 10x8mm.With provisionaldiagnosis of foreign body in left mainbronchus, diagnostic Bronchoscopy wasdone which revealed bronchial mucosaprojecting into left main bronchusobstructing 75% of left main bronchus

fig 1

CT Thorax :

Ball valve typeof obstruction at theleft main bronchus due to granulation tissuesecondary to mediastinal nodes,favouringthe diagnosis of Pulmonary tuberculosis.(fig.2)

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Histopathology Of Mass: showedinfiltrative granulomatous inflammatorylesion suggestive of Tuberculosis.TREATMENT :

In the view of EndobronchialTuberculosis Anti tubercular therapyCategory 1 of RNTCP was started. Followup for 6 months revealed good weight gain,decrease in cough and improvement ingeneral condition.DISCUSSION:

The clinical manifestations of EBTBmay be acute, insidious or delayed withnon-specific chest manifestations whilemodern treatment has led in overall declineof EBTB. Currently, its incidence may beunderestimated since diagnosticbronchoscopy is not performed on everypatient with tuberculosis. The pathogenesisof EBTB is not yet fully established.However, proposed mechanisms includedirect implantation of tubercle bacilli intothe bronchus from an adjacent pulmonaryparenchymal lesion, direct airwayinfiltration from an adjacent tuberculousmediastinal lymph node, erosion andprotrusion of an intrath oracictuberculouslymph node into bronchus, hematogenousspread and extension to the peri-bronchialregion by lymphatic drainage.(3)

The clinical course of EBTB isvariable because not only are there severalpossible pathogenetic mechanisms, but theinteraction between the effect ofmycobacteria, host immunity, and anti-tuberculous drugs is complex, and any

variation in these three factors may result inan altered course.(4)

The early clinical manifestations ofchildhood ETB are often nonspecific.Although irritable cough accompanied withlocalized wheezing may be the importantfeatures of Endobronchial tuberculosis, theyare not frequently seen. Chest X-ray andeven CT often show normal results in theearly stage.(5).Clinically, ETB is oftenunderdiagnozed, or misdiagnosed asbronchitis, bronchial asthma, cough variantasthma, foerign body or bronchiectasis.Delayed treatment may result intracheobronchial stenosis, systemictuberculosis and posing serious effect onchild's health and development.CONCLUSION:

The eradication of Mycobacteriumtuberculosis and the prevention oftracheobronchial stenosis are two mostsubstantial treatment goals. To get thetreatment goals, the diagnosis must beestablished early and aggressive treatmentsmust be performed before the diseaseprogresses too far. Differential diagnosis ofEndobronchial tuberculosis should bealways kept in mind before consideringother diagnosis in cases of chronic cough.

REFERENCES:1. John BE, Zaman M. Endobronchial

tuberculosis. Hosp Physician 2001;37:41-3.2 Xue Q1, Wang N, Xue X, Wang J.

Endobronchial tuberculosis: an overview.Eur J ClinMicrobiol Infect Dis. 2011Sep;30(9):1039-44.

3. Chung HS, Lee JH. Bronchoscopicassessment of the evolution ofendobronchial tuberculosis. Chest2000;117:385-92.

4. Chan, HS, Pang, JA Effect ofcorticosteroids on deterioration ofendobronchial tuberculosis duringchemotherapy.Chest1989;96,1195-11962.

5. Cakir E, Uyan ZS, Oktem S, et al. Flexiblebronchoscopy for diagnosis and follow upof childhood endobronchial tuberculosis.Pediatr Infect Dis J 2008;27:783-7.

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NEONATAL VARICELLA- A CASE REPORTDr. Archana MV, Dr. K. Shreedhara Avabratha*, Dr. Lokesha R

Dept Of Pediatrics, Father Muller Medical College Mangalore, 575002.Email: [email protected]

ABSTRACT:

Neonatal varicella is caused due toperi-natal infection of the neonate. Clinicalpresentation may be mild to severe. Upto31% of neonates with severe disease maysuccumb to it especially when maternalvaricella begins 5 days or less beforedelivery or up to 2 days after delivery. Acase of neonatal varicella developed on10th day of life with a fatal outcome isdiscussed here with a brief review ofliterature to highlight the need for earlyinitiation of aggressive treatment andimportance of prophylaxis.

INTRODUCTION:

Neonatal varicella is rarelyencountered( incidence of 2-6 per 100 000live births per year1) and treated even less.Upto 31% of neonates with severe diseasemay succumb to it especially whenmaternal varicella begins 5 days or lessbefore delivery or up to 2 days afterdelivery2. Clinical presentation is variable,ranging from a mild illness resemblingchickenpox in older children to adisseminated disease like varicellapneumonia, hepatitis andmeningoencephalitis3. Treatment involvesvaricella zoster immunoglobulin, acyclovir,isolation and supportive care. We report acase of neonatal varicella developed on10th day of life with a fatal outcome with abrief review of literature.

CASE:

A 15 day old male baby was referredwith varicella for further management. The

baby was born full term to a 22 yearsprimigravida mother by normal vaginaldelivery at term in a hospital. The birthweight was 3.5kg. Mother on the day ofdelivery had developed chickenpox. Motherand baby were isolated for 5days and laterwere discharged home. Baby developedfever and erythematous papulovesicularrashes on the body on 10th day of life, andtreated in a hospital with IV acyclovir andantibiotics for 5 days. As the babydeveloped respiratory distress andconvulsions, he was referred. Onexamination he had tachypnea, poorperipheral perfusion, was drowsy withintermittent jerky movements of limbs andgeneralized vesicular rashes with fewpapules, ulcerated and crusted lesions.Investigations showed leucopenia with shiftto left, moderate thrombocytopenia, withelevated CRP and liver enzymes. Chest Xray showed bilateral nonhomogenousopacities. Baby needed mechanicalventilation and anticonvulsants. Intravenousacyclovir and antibiotics were continued.Considering multi-organ involvementvaricella zoster immunoglobulin was givento reduce the severity. In spite of allmeasures baby succumbed to the illnessafter 4 days.

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DISCUSSION:

Neonatal varicella is distinct fromcongenital varicella caused due to theintrauterine infection of the foetus. Neonatalvaricella on the other hand is caused due toperi-natal infection of the neonate. The riskof infection and fatality rates aresignificantly high because of insufficienttime for the development of maternal IgGand lack of passively transferredimmunoglobulin protection in newborn andalso the infant's cell-mediated immuneresponse may not be enough to prevent theviremia.4.

Any newborn with significantexposure to varicella zoster should beoffered VariZIG (varicella zosterimmunoglobulin) as soon as possible5. IfVariZIG is not available and more than96hous elapsed since exposure, one shouldconsider giving IVIG or prophylacticacyclovir. A mother with active varicellalesions must be isolated. Treatment ofneonatal varicella includes Intravenousacyclovir for 10 days and supportive/symptomatic care as indicated, along withadditional antibiotics if superimposedbacterial infection is suspected. There is noevidence VZIG modifies establishedvaricella-zoster infections6.

CONCLUSION:

Recognition of skin lesions, promptdiagnosis and treatment of pregnant womenwith varicella and neonatal prophylaxis are

necessary to prevent neonatal varicella. Thecase report highlights the need for earlyinitiation of aggressive treatment andimportance of prophylaxis.

REFERENCES:

1. Forrest J, Mego S, Burgess M .Congenital and neonatal varicella inAustralia.J Paediatr Child Health2000;36:108- 13.

2. Preblud SR, Bregman DJ, Vernon LL.Deaths from varicella in infants.Pediatr Infect Dis. 1985 Sep-Oct;4(5):503-7.

3. American Academy of Pediatrics.Varicella Zoster infections. In:RedBook:2012 report of committee ofinfectious disease, 29th ed, Pickering,LK(eds), American Academy ofPediatrics, Elk Grove Village,IL 2012.P.774.

4. Bhardwaj AK, Sharma PD Sharma A.Neonatal varicella: A case reportAustralas Med J. 2011; 4(6): 291-293.

5. Schleiss MR, Patterson JC. ViralInfections of the fetus and newborn.In: Avery's Diseases of the newborn,9th ed, Gleason CA, Devaskar SU(eds)Saunders, Philadelphia 2012;468-478.

6. Taketomo CK, Hodding JH, Kraus DM.Varicella -Zoster Immune Globulin.In: Pediatric Dosage Handbook,14thed.Lexi-Comp,Ohio,2008:1600-1602.

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SPECTRUM: STURGE-WEBER SYNDROMEDr. K. Praveen Kumar*, Dr. Sachinmiraj, Dr. Ramesh.H, Dr. Ashwini.R.C, Dr. C. R. Banapurmath.

Bapuji Child Health Institute And Research Centre, J.J.M.Mediccal College, Davangere.*email:[email protected]

ABSTRACT

Sturge-Weber syndrome (SWS) is aneurocutaneous disorder, also callede n c e p h a l o t r i g e m i n a l a n g i o m a t o s i s w i t hangiomas that involve the skin of thefaceandleptomeninges. The classical triadconsists of -a facial cutaneous venousdilation, also referred to as a nevusflammeus or port-wine stain (PWS),leptomeningeal angioma and glaucoma.

We report 2 cases of SWS with variedpresentations, one with classical triad ofSWS and other with only central nervoussystem(CNS) involvement with nocutaneous or ocular manifestations,signifying that the diagnosis of SWS is notalways straightforward.

KEY WORDS : Sturge-Webersyndrome, leptomeningealangioma, port-wine stain.

INTRODUCTION:

Incidence of SWS is 1 in 50000 livebirths. SWS is referred to as complete whenbothfacial and central nervoussystem(CNS)angiomas are present, andincomplete when only the face or CNS isaffected.

The Roach Scale is used for classification,as follows [3,5] :

Type I - Facial and leptomenin-gealangiomas[LA]; patient may haveglaucoma

Type II - Facial angioma alone (no CNSinvolvement); patient may have glaucoma

Type III - Isolated LA (with only CNSinvolvement); usually no glaucoma.

SWS is caused by residual embryonalblood vessels and their secondary effects onsurrounding brain tissue. A vascular plexusdevelops around the cephalic portion of theneural tube, under ectoderm destined tobecome facial skin. Normally, this vascularplexus forms in the sixth week andregresses around the ninth week ofgestation. Failure of this normal regressionresults in residual vascular tissue whichforms the angiomataof theleptomeninges,face, and ipsilateral eye.[4]

A "vascular steal phenomenon" maydevelop around the angiomaresulting incortical ischemia. Recurrent seizures, statusepilepticus, intractable seizures, andrecurrent vascular events may aggravatethis steal further with an increase in corticalischemia resulting in progressivecalcification, gliosis, and atrophy which inturn increase the chance of seizures andneurologic deterioration.[10]

CASE REPORT :

Case 1 : A 9 year old boy, 5th issue ofa non-consanguineous marriage, presentedwith acute history of headache, pain andredness in right eye, fever and one episodeof convulsion. The child had past historysuggestive of multiple focal seizuresbeginning at the age of 9 months and he ison antiepileptic medication till date.

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On examination vitals were stableand head to toe examination revealed port-wine stain(PWS) over right upper half offace. In view of these features, diagnosis ofSWS was thought and further investigated.Completeophthalmic examination revealedincreased intra ocular pressure(IOP) of28mm of Hg in the right eye. CT brainshowed right occipital tram trackcalcification. All the features were consistentwith SWS type I. Child was managedinitially with anticonvulsants for seizurecontrol. Medical management for glaucomawith topical Timolol and Latanoprost eyedrops,failed to decrease his IOP. Childunderwent surgical correction(Trabaculotomy) following which hisintraocular pressure is under control.

Case 2 : A 9 month old boy born to anon-consanguineous marriage presentedwith delayed attainment of age appropriatemilestones and myoclonic seizures with nosignificantbirth and family history. Ongeneral physical examination there were noneurocutaneous markers. Ophthalmicexamination was normal. MRI brainshowed hemiatrophy of right cerebralhemisphere with leptomeningealenhancement and gliosis of posterior parito-occipital region. Based on the neuroimagingstudy and the clinical profile features wereconsistent with diagnosis of SWS type-III(only CNS involvement with no port-winestain).Seizures were controlled with twoanticonvulsants. On follow up at 12m, 15m,and 18m child is seizure free and isgradually attaining the milestones.

Fig 1: PWS over right half of face.Fig 2: CT brain - Tram-track Calcification.Fig 3: Fundus-Glaucoma

Fig 4 : Child with no PWSFig 5 : MRI brain-Rt cerebral atrophy andgliosis In parieto occipital area.

Discussion:

The SWS has 3 manifestations ;cutaneous , neurological, ophthalmic.

The hallmark of SWS is a facialcutaneous venous dilation, also known asnevus flammeus or port wine stain.

In our first case the child had all thethree classic presentation of SWS- cutaneousmanifestation as PWS, ophthalmicmanifestation as glaucoma and CNSmanifestation as seizures.

Special mention in this case wasabout ophthalmic involvement as glaucoma.

Glaucoma has been estimated to occurin 30-71% of patients in SWS[6]. Secondaryglaucoma may present at any age, althoughearly onset is the rule, with approximately60% of glaucomas presenting at birth or inearly infancy and another 30% presentingduring childhood. The median ages reported

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for onset of visual symptoms related tosecondary retinal changes range from age 8-20 years.

It is produced by mechanicalobstruction of the angle of the eye, elevatedepiscleral venous pressure, or hypersecretionof fluid by either the choroidalhemangiomaor ciliary body. The anterior chamber angleabnormality is consistently seen in theinfantile glaucoma cases in SWS, whileincreased episcleral venous pressure mayhave a key role in late-onset glaucoma casesin SWS. Decreased vision and blindnessresult from untreated glaucoma, withincreased IOP leading to optic nervedamage. An acceptable range of IOP is 10-22mm Hg.

The glaucoma associated with SWSis a significant cause of morbidity becauseof its early onset and resistance toconventional forms of treatment.

In our case the child presented as lateonset glaucoma at 9 years and was notresponding to conventional forms oftreatement, requiring surgical correction(Trabeculotomy) to control his intraocularpressure. Following surgical correction hisIOP is under control and is symptom freewith good vision.

In our second case the childpresented with seizures and developmentaldelay with no cutaneous markers .

Not all children with facial angiomasand PWS have SWS.The risk of SWS withfacial PWS is about 8%.Incidence of SWSwithout facial PWS is estimated to be about13%. In incomplete SWS (type III, RoachScale), CNS angiomas occur withoutcutaneous features; therefore, no suspicionof SWS arises until a seizure or otherneurologic problem develops. Thus, the

diagnosis of SWS is not alwaysstraightforward [1,11]. Related to the degree ofneurologic involvement, developmental delayand mental retardation occur in 50-60% ofpatients with SWS; they are more likely toexist in patients with bilateral involvement.[2]

In a report by Sujansky and Conradi, usingdata obtained through the Sturge-WeberFoundation,[8] overall developmental delayoccurred in 97 (58%) of 168 patients withSWS. Early developmental delay, however,occurred in 71% of patients with seizuresand in only 6% of those without seizures.

In our case the diagnosis of SWS wasmade based on the typical neuroimagingfindings and the clinical presentation. MRIbrain showed diffuse right cerebral atrophymore marked in the parieto-occipital regionwith gliosis. These imaging finding suggestfeatures of SWS.With effective seizurecontrol measures most children regain theirmilestones as in this child.

CONCLUSION

SWS is a neurocutaneous disorderwith sporadic inheritance. It is associatedwith various morbidities. The diagnosis isnot always straight forward, requiresimaging studies for confirmation. Timelyintervention and good pschosocial supportis essential for the overall development ofthe child.

REFERENCES:

1. Maria Bl, Hoang KBN, Robertson RL etal. Imaging brain structure andfunction in Sturge-Weber Syndrome. In:Bodensteiner JB, Roach ES, eds. Sturge-Weber Syndrome. Sturge WeberFoundation. Mt Freedom, New Jersey.Sturge Weber Syndrome. 1999,43-69;43-69.

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2. Boltshauser E, Wilson J, Hoare RD.Sturge-Weber syndrome with bilateralintracranial calcification. JNeurolNeurosurg Psychiatry. May1976;39(5):429-35.

3. Roach ES. Neurocutaneous syndromes.PediatrClin North Am. Aug1992;39(4):591-620.

4. Rochkind S, Hoffman HJ, Hendrick EB.Sturge-Weber Syndrome: Naturalhistory and prognosis. J Epilepsy.1990;3(Suppl):293-304.

5. Robert M. Kliegman, Bonita F. Stanton,Richard E. Behrman, et al. Sturge-WeberSyndrome. Nelson Text book ofPediatrics, 19th edition,2012:2051-52.

6. JB, Roach ES, eds. Sturge-WeberSyndrome. Mt Freedom, New Jersey:Cheng KP. Ophthalmologicmanifestations of Sturge-Webersyndrome. In: BodensteinerSturgeWeber Foundation; 1999:17-26.

7. Garcia JC, Roach ES, McLean WT.Recurrent thrombotic deterioration inthe Sturge-Weber syndrome. ChildsBrain. 1981;8(6):427-33.

8. Sujansky E, Conradi S. Sturge-Webersyndrome: age of onset of seizures andglaucoma and the prognosis foraffected children. J Child Neurol. Jan1995;10(1):49-58.

9. American Association of NeuroscienceNurses. Care of the patient withseizures. 2nd ed. Glenview (IL):American Association of NeuroscienceNurses; 2007.

10. Aylett SE, Neville BG, Cross JH. Sturge-Weber syndrome:cerebral haemo-dynamics during seizure activity. DevMed Child Neurol. Jul 1999;41 (7): 480-5.

11. Enjolras O, Riche MC, Merland JJ.Facial port-wine stains and Sturge-Weber syndrome. Pediatrics. Jul1985;76(1):48-51.

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ASPHYXIATING THORACIC DYSTROPHY- A RARESKELETAL DYSPLASIA.Dr. Mahesh Maralihalli. Dr. Mahantesh Matti

Dept of Pediatrics, SDM College of Medical Sciences and Hospital ,Dharwar 580009Email: [email protected]

INTRODUCTION:

Asphyxiating thoracic dystrophy isalso known as Jeune syndrome. It isinherited as autosomal recessive disorder.

It is clinically diagnosed by itscharacteristic clinical features such aselongated, narrow and small chest, shortarms and legs and postaxial polydactyly insome cases. There may be associated renalproblems which can cause chronic renalfailure in later life. There can be associatedcardiac, liver, retinal, intestinal problems.Characteristic radiological features are bellshaped thorax,horizontally placed ribs,pelvic bone changes include short squarediliac wings, trident appearance of acetabularmargin, wineglass pelvis, hypoplasticphalanges of hands and feet with cone-shaped epiphyses, short and wide longbones limbs (1,2,3).

The Severity of clinical presentationvaries due to genetic heterogenesity of thedisorder. There can be early neonatal deathdue to severe respiratory distress in severeform to mild medical problems in thosesurvive beyond childhood to adolescents.

CASE DETAILS:

This baby, 1st by birth order, born ofnon consanguineous marriage, was bornby emergency caesarian section. Baby criedimmediately after birth. Baby had tachypneaat birth, which settled after 4 days. Feedswere initially given via nasogastric tube and

slowly breast feeding started as tachypneasettled. Baby was discharged after 7 days ofhospital stay. At the time of discharge babyhad RR 48/min, HR 145/min, bloodpressure within normal limits, systemicexamination was normal. Salient clinicalfeatures were Short limbs, small and narrowchest, postaxial polydactyly in both upperlimbs. These clinical features suggestAsphyxiating thoracic dystrophy.Investigations revealed normal blood counts,septic work up including white blood count,CRP, blood culture were normal. Chest X rayshowed features of thoracic dystrophy.Ultrasound of cranium and abdomen werenormal.

Figure1: An infantogram and clinicalpicture of the baby with typical features ofAsphyxiating thoracic dystrophy

DISCUSSION:

It was first described by Jeune in1955(4). Its incidence estimated at 1 caseper 100000-130000 live births (5). Various

74


terms used to describe the same areAsphyxiating thoracic chondrodystrophy,Asphyxiating thoracic dysplasia,Chondroectodermal dysplasia-like syndrome,Infantile thoracic dystrophy, Jeunesyndrome, Jeune thoracic dysplasia, Jeunethoracic dystrophy, Thoracic asphyxiantdystrophy.

Jeune syndrome is a rare potentiallylethal autosomal recessive skeletal dysplasiawith respiratory and renal problems(6,4).Significant mortaliy is seen in earlyneonatal period because of severerespiratory insufficiency. Associated renalproblems include cystic dysplasia ornephronophthisis. These renal problemsprogress to chronic renal failure later in thelife. Dysgenesis, cirrhosis or fibrosis are theassociated liver problems. Retinitispigmentosa is seen in some patients.Intestinal malabsorption is infrequently seenin these patients. They may have pancreaticinsufficiency later in life.

This baby had narrow tubular chest,short limbs, postaxial polydactyly.Radiological features on infantogram weresuggestive of Jeune syndrome.

The differential diagnoses includeAchondrogenesis, Achondroplasia,Cartilage-Hair Hypoplasia, Ellis-van CreveldSyndrome, Hypophosphatasia,Thoracolaryngopelvic dysplasia,Sensenbrenner syndrome.

The genetic basis of Asphyxiatingthoracic dystrophy involves the IFT80(3q25.33), DYNC2H1 (11q22.3), WDR19(4p14) and TTC21B (2q24.3) genes, eachencoding an intraflagellar transport protein,

which confirms that Jeune syndrome is aciliopathy.

These individuals need to beperiodically screened for respiratory, renal,liver, cardiac, pancreatic functions,ophthalmologic examination. Since it is aautosomal recessive disorder, parents needto be counselled regarding the chances ofsame being inherited in offsprings.

REFERENCES:

1. Hennekam RCM, Beemer FM, GerardsLJ, Cats B. Thoracic pelvic phalangedystrophy (Jeune syndrome). TijdschrKindergeneeskd 1983;51:95-100

2. Herdman RC, Langer LO. The thoracicasphyxiant dystrophy and renaldisease.Am J Dis Child 1968;116:192-201

3. Pirnar T, Neuhauser EBD.Asphyxiating thoracic dystrophy of thenewborn. Am J Roentgen 1966;98:358-364

4. de Vries J, Yntema JL, van Die CE,Crama N, Cornelissen EA, Hamel BC.Jeune syndrome: description of 13 casesand a proposal for follow-up protocol.Eur J Pediatr. Jan 2010;169(1):77-88

5. Oberklaid F, Danks DM, Mayne V,Campbell P. Asphyxiating thoracicdysplasia. Clinical, radiological, andpathological information on 10 patients.Arch Dis Child. Oct 1977;52(10):758-65

6. O'Connor MB, Gallagher DP, Mulloy E.Jeune syndrome. Postgrad Med J. Oct2008;84(996):559

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INDIAN ACADEMY OF PEDIATRICS Karnataka StateMedicare Center, Karangalpady, Mangalore 575003 (India)

Society Reg No: EKM -S460-2006-2007

PEDIATRIC TRAVEL FELLOWSHIPSThe Indian Academy of Pediatrics Karnataka shall award 6 (six) paid Trainee

Fellowships every year to the members of the IAPK for training in Pediatric Specialtiesanywhere in India

Rules for selection of candidates

1. Age no bar.

2. The applicant should categorically indicate that the training received by him/herwill be of use to the Institution / in private practice and that he/she has a definiteplan to utilize the training by setting up the concerned specialty.

3. The candidate should clearly state which centre he/she wish to visit and for whatspecialty.

The candidate will have to directly approach the Institution where he/she wish tohave training and give a provisional letter of acceptance from the Head ofDepartment under whom he/she will work.

4. The training will be for a period of 4 weeks.

The IAP will provide a total grant Rs. 10000 (Ten Thousand) each.

5. The grant money will be paid to the Trainee Fellow on submission of

(i) copy of training completion certificate

(ii) a brief report on the training received by him/her and

(iii) statement of expenses

6. The paid Trainee Fellowship is not open to those who have been awarded once bythe IAPK.

7. Please submit duly filled applications on or before April 30th to

Joint Secretary,IAP Karnataka Branch,

Medicare Center, Karangalpady,Mangalore 575003

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APPLICATION FORM FOR TRAINEE FELLOWSHIP1. Name of the Applicant :

Date of BirthSexIAPK Membership NoAddress:Pin Code :Mob: Email :

2. QualificationsMedical / Pediatric Qualification

Name of the University Qualifying Date3. Appointments held till date:

Sr. No Designation Period Teaching /Non-Teaching

4. Proposed Sub-specialty and Subject of Training :

5. Name and Address of the Institution where training is desired(enclose a letter of acceptance by the training institution)

Pin Code :Phone:

6. Give justifications for the training sought (Brief 100-150 words)

7. Two References with Phone and email.id:i)ii)

(Signature of Applicant)

Place :

Date :

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karnataka paediatric journal vol. 29, no. 2 april - june

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