mikropenis and hipospadia in child

5/26/2018 MIKROPENIS AND HIPOSPADIA IN CHILD

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INTRODUCTION

Cardiomyophaties are heart muscle disorders that affect ventricular systolic function,

diastolic function, or both. They are classified by the World Health Organization as (1)

dilated cardiomyopathy (DCM), (2) hypertrophic cardiomyopathy, (3) restrictive

cardiomyopathy, and (4) arrhythmogenic right ventricular dysplasia- cardiomyopathy.1Most

patients have pure forms of these disorders that fulfill strict diagnostic criteria, although

some have overlapping disorders with mixed forms of disease. Despite long-standing interest

in these high-impact disorders, the demographics and underlying causes have been difficult to

ascertain, particularly in children. Dilated cardiomyopathy, a myocardial disorder

characterized by a dilated left ventricular (LV) chamber and systolic dysfunction that

commonly results in congestive heart failure (CHF).

1,2

In some cases, right ventriculardysfunction is also noted and may add to the clinical severity of disease.

Approximately 30% to 35% of patients are reported to have a genetic form of DCM.

Infants and older children, however, appear to have a wider spectrum of causes, 3although

identifying these causes has been difficult. Relatively little information on the incidence of

cardiomyopathies in childhood has been published. Arola et al4 reported an incidence of

DCM of 0.34 cases per 100 000 children per year and a prevalence of 2.6 cases per 100 000

children in Finland, a racially homogeneous population. A large percentage of cases occurred

in infants (1 year of age; 3.8 per 100 000 cases per year). Recently, our group, the Pediatric

Cardiomyopathy Registry (PCMR), reported the incidence of pediatric cardiomyopathy in 2

regions of the United States, New England and the central Southwest.5A total of 467 cases of

childhood cardiomyopathy were reported, yielding an annual incidence of 1.13 per 100 000

infants and children overall, with differences by race, sex, and region. The PCMR report

defines the overall incidence of all forms of childhood cardiomyopathy but has limited details

regarding the causes, risks, and outcomes of specific forms of cardiomyopathy. However,more detailed information focusing on particular forms of cardiomyopathy is required for

clinicians to understand the clinical disorders of individual patients.1,2

The most common presentation of DCM is with signs and symptoms of overt cardiac

failure. In infants, this will usually manifest as feeding difficulties, whereas older children

will usually report a reduction in exercise tolerance, dyspnoea, or oedema.2,3,9

Cardiovascular complications may occur in children with acute leukemia as a result of

anemia, infection, chemotherapy, or leukemic infiltration of the myopericardium. 6Acquired


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cardiac complications are more common than those due to cardiac leukemic infiltration.6

Microscopic leukemic infiltration of the cardiac muscle and pericardium has frequently been

observed during post mortem examinations in patients with acute leukemia. Extranodal

malignant leukemias or lymphomas involving only the heart without dissemination is

extremely rare and very few antemortem cases have been reported. gross disease, particularly

at the time of initial leukemia diagnosis, is rare.7

The following report is a case of a child with dilated cardiomyophaty with acute

lymphoblastic leukemia B Lineage before chemotherapy, who has been hospitalized in Prof.

Dr. R. D. Kandou hospital Manado.

CASE REPORT

A 2 year 9 month old girl, PR, Christian, Minahasa tribe, was admitted to Prof. Dr. R.D.

Kandou General Hospital Manado on April 22, 2013 at 01.30 pm, with a chief complaint is

fever.

History of illness(alloanamnesis, given by the mother)

Patient was brought to Prof Kandou General Hospital with major complain : fever

since 3 days before admission to the hospital. The fever is not to high without shivering,

excessive sweats, and seizure. Patient was given antipyretic. Patient look pale but the parents

didnt recognize it,theres no history of bleeding from the patient. Patient daily activity was

normal. Theres no complain of poor feeding, irritability, and shortness of breath or

difficulty of breathing. Defecation and urination seems normal as usual.

This patient is the second son from 2 brothers, the deliveries were sectio cesaria, no

history of cyanotic attack upon crying and immediately cried.

History of prenatal care and birth

During the pregnancy, his mother had regular antenatal care and had tetanus toxoid

immunization twice. This patient was born with sectio cesaria, immediately cried, aterm,

birth weight was approximately 3400 grams, forgot the birth length.


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History of experienced illness

Patient had history of morbilli, diarrhea, fever-cought dan typhoid fever.

Developmental milestones

Social smile : 2 months

Turning in prone position : 3 months

Sitting : 4 months

Crawling : 6 months

Standing : 9 months

Calling mama/papa : 11 months

Walking : 12 months

History of feeding

Breast feeding : birth6 months

Milk Formula : birth - now

Milk porridge : 48 months

Soft rice porridge : 612 months

Rice : 9 monthsnow

Immunization

He received basic immunization completely as recommended


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Family Tree

Social, Economic and Environmental conditions

She is the second child in the family. His fathers age is 39 years old, a university graduation,

works in Medistar laboratorium, while his mothers age is 34 years old, a university

graduation, a work in Medistar laboratorium too.

They live in a permanent house with 4 bedrooms, occupied by 5 adults and 2 children.

The roof made from metal platform, the wall made from , the floor is ceramic, restroom is

located inside the house, there is electric source, drinking water source is from the dwell, and

garbage is burned regularly.

April 22, 2013 (1stday)

General conditions : Look moderately ill, GCS E4V5M6 /compos mentis

Body weight 17 kg Z score 2 - 3 (WHO weightheight girl)

Body height 95 cm

Vital signs : Pulse rate : 116 x/min

Blood pressure : 100/70 mmHg

Respiratory rate : 28 x/min

Temperature : 37 C

Head : oval shape, bold hair

Eyes : conjunctiva anemia +/+, sclera icterus -/-

pupil isochoric with diameter 3 mm, responds to lights

Ears : left : wide meatus acusticus externus, normal ear drums


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right : wide meatus acusticus externus, normal ear drums,

no secretes

Nose : no secretes, no nasal flaring.

Mouth : no central cyanosis, tonsils T1/T1 without

inflammatory sign, pharynx without inflammatory sign

Neck : lymph node enlargement (-), no tenderness pain

Chest : symmetrical respiratory movements, no retraction

Heart :

- Inspection : no visualization of ictus cordis- Palpation : ictus cordis palpable at the 4th intercostals space at 1cm

lateral from linea midclavicularis sinistra

- Percussion : left margin : 1 cm laterallinea midclavicularis sinistra.Right margin : linea parasternalis dextra.

Upper margin : 2nd3thintercostal space.

- Auscultation : regular heart beat,no audible murmur , gallop (-)Lungs : symmetrical movement, symmetrical vocal fremitus,

bronchovesicular breath sound, without rales nor wheezing

Abdomen : flat, soft, with normal bowel sound, liver palpable at 3-3 cm

below costal arch, spleen palpable Schuffner III

Extremities : warm, no cyanotic, capillary refill time less than 2 seconds,

normal muscle tone, physiological reflexes normal, no pathology

reflexes

Genitalia : female, no abnormality

Laboratory

Hemoglobin : 6.5 g/dL (11.0-16.5 g/dL) Hematocrit : 18.1% (35-50%)


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Leukocyte : 81.500/mm3 (3.500-10.000/mm3) Eritrocyte : 2.5 g/dl (3,8-5,5) Thrombocyte : 11.000/mm3 (150.000-390.000/mm3) MCV : 72,4 fl (76-100 fl) MCH : 26 pg/cell (25-35 pg/cell) MCHC : 35.9 g/dl (31-35 g/dL) ANC : 815 Na : 135 mEq/L (134-144 mEq/L) K : 4.1 mEq/L (3.5-5 mEq/L) Cl : 104 mEq/L (98-107 mEq/L) Tubex : +4 Ureum : 30 mg/dl (10-50 mg/dl) Creatinin : 0.7 mg/dl (0.6-1.2 mg/dl)

Uric acid : 8.7 mg/dl (2-7 mg/dl)

Total protein : 6.1 mg/dl (6-8.4 mg/dl) Albumin : 3.6 g/dl (3.5-5.5 g/dl) Globulin : 2.5 mg/dl (2.3-3.5 mg/dl) SGOT : 60 U/l (2-35 U/l) SGPT : 17 U/l (2-45 U/l) CRP : < 6 LDH : 1266 Blood smear : erythrocyte normocytic normochromic, polichromatofilia (-),

normoblast (-), malaria (-). Leukocyte: high leukocytosis, there is domination with

lymphositic lymphoblast. Thrombocyte: severe thrombocytopenia, without aggregation.

Conclusion: acute lymphoblastic leukemia.


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Working diagnosis

Suspect acute lymphoblastic leukemia Thyphoid Fever Overweight

Treatment

IVFD NaCl 0.45 in D5% + 20 mEq natrium bicarbonate (Hyperhidration for 48 hours) 84-85 ml/hour = 28-29 gtt/min. Balance-diuresis every 4 hours, if balance + 100, give

furosemide injection 8 mg

Chloramphenicol 3x500mg per oral Allopurinol 2x60mg peroral Paracetamol syrup 3x1 cth (250 mg) CrossmatchPacked red cell Obsevasion Nutrition RDA child 1-3 years

Calory 102 kcal/kgbw, protein 1.23/kgbw, water 115-125/kgbw

Calory 1734 kcal/day, protein 20.91 gr protein / day, water 1.995ml/day

Planning

Transfusion with packed red cell/PRC (PRC: Hb x BW x 4270 ml), at 20.00-23.00 :transfusion PRC 180 ml.

Consult to pediatric cardiologi division Consult to ENT and Dentist department X photo thorax Bone marrow puncture Mantoux test


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Blood Culture

Follow up

April 23-24, 2013 (2nd

-3th

day)

Complaint : Vommiting 2 times, no blood, no fever, no abdominal pain





Temperature : 36.6 C

Head : conjungtiva is not anemic, sclera is not icteric, no head nodding


Heart :

- Inspection : no visualization of ictus cordis- Palpation : ictus cordis palpable at the 4thintercostals space at 1cm


- Percussion : left margin : linea midclavicularis sinistra.Right margin : linea parasternalis dextra.








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Laboratorium

BMP result from Prodia : Suspek ALL, Hyperceluler with Limfoblas L1 domination sugestif ALL FAB Class L1 (limfoblas 76,4%)

Mantoux test (-) PCV 24% Waiting Blood culture result Elektrocardiography result:

Sinus rhythm,

QRS rate : 83x/minute ( normal 80-120x/minute)

P wave : 1mm, 0,08 sec

PR interval : 0,12 sec

Qt : 0,32 sec

QoTC : 0,02 sec

QRS interval : 0,1 sec

VAT at Vi 0,02 mm VAT at v6 : 2,5 mm

No abnormalities in QRS, ST segment, P wave, T wave

Conclusion : Normal ECG

Working diagnosis

suspect acute lymphoblastic leukemia Thyphoid Fever Overweight

Treatment

IVFD NaCl 0.45 in D5% + 20 mEq natrium bicarbonate (Hyperhidration until 24-04-2013, 12.00 WITA) 84-85 ml/hour = 28-29 gtt/min. Balance-diuresis every 4 hours, if

balance + 100, give furosemide injection 8 mg


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Ranitidin Injection 2x20mg IV Ondansentron Injection 2x4mg IV Chloramphenicol 3x500mg per oral Allopurinol 2x60 mg peroral Paracetamol syrup 3x1 cth (250 mg)

Planning

Thrombocyte transfusion 1 unit (24-04-2013 16.00) Waiting pediatric cardiologi division consult result Consult result from ENT and dentist was normal

April 25-27, 2013 (4th

-6th

day)

Complaint : No fever, no vommiting





Temperature : 36 C



Heart :






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Laboratorium 27-04-2013

Hemoglobin : 11,3 g/dL Hematocrit : 32% Leukocyte : 52.850/mm3 Eritrocyte : 3,81 g/dl Thrombocyte : 16.000/mm3 MCV : 85,6 MCH : 30,4 MCHC : 35,6 Ureum : 48 mg/dl Creatinin : 1.1 mg/dlGFR = 48% Uric acid : 8.3 mg/dl Total protein : 6.1 mg/dl Albumin : 3.6 mg/dl Globulin : 2.5 mg/dl SGOT : 63 U/l SGPT : 32 U/l Urinalysis : in normal limit


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Echocardiografi result (27-04-2013)2D : Sinus Solitus

AV-VA concordance

Left atrium and ventrikel dilatation

Not found VSD, ASD and PDA

Aortic arch is at the left side of the heart, no coartion of the aortic arch

M-mode : Heart contractility decreased (EF 29%, FS 13%), LA/AO 1.79

Conclusion : dilated cardiomyophaty

Suggestion : digoxin 0.01 mg/kg divided into 2 doses

Echocardiografi 3 weeks again

BMP Dharmais : Morfology ALLL1, B Lineage X photo thorax : CTR 55%

Working diagnosis

Acute lymphoblastic leukemia B Lineage Dilated Cardiomyopathy Acute Kidney Injury, injury stadium Thyphoid Fever Overweight

Treatment

Chloramphenicol 3x500mg per oral Allopurinol 2x60mg Digoxin 3x0.09mg Paracetamol syrup 3x1 cth (250 mg) Low sodium diet 1gr/day


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Planning

Thrombocyte transfusion 1 unit (26-04-2013 06.00) Packed red cell transfusion 180 cc pre furosemide 9mg IV (25-04-2013 17.30) Begin chemotherapy at 30-04-2013 with Indonesian ALL high risk protocol 2006.

Chemotherapy started without doxorubicin.

Echocardiografi 3 weeks again.

April 28-30, 2013 (7th

-9th

day)

Complaint : No fever, vommiting 2 times





Temperature : 36,8 C



Heart :










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Laboratorium

Hemoglobin : 8.0 g/dL Hematocrit : 22.5% Leukocyte : 80.100/mm3 Eritrocyte : 2.63 g/dl Thrombocyte : 8.000/mm3 Feces : in normal limit

Working diagnosis

Acute lymphoblastic leukemia B Lineage High Risk Induction Phase Week 0 day 1 (30-04-2013)

Dilated Cardiomyopathy Acute Kidney Injury, Injury stadium Thyphoid Fever Overweight

Treatment

IVFD NaCl 0.45 in D5% + 20 mEq natrium bicarbonate (Hyperhidration start 28-04-2013, 07.00 am) 84-85 ml/hour = 28-29 gtt/min. Balance-diuresis every 4 hours, if

balance + 100, give furosemide injection 8 mg

Methrotrexate 10 mg intatekal (30-04-2013) Dexamethasone tab (0.5mg) begin at 30-04-2013 day 1 1--0, day 2 1-1-1, day 3 2-1-1,

day 4 3-2-1, day 5 3-2-2

Chloramphenicol 3x500mg per oral Allopurinol 2x60mg


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Digoxin 3x0.09mg Paracetamol syrup 3x1 cth (250 mg) if needed

Planning

Thrombocyte transfusion 2 unit (29-04-2013 and 30-04-2013) Packed red cell transfusion 200 cc pre furosemide 9mg IV (30-04-2013)

May 1 - 2, 2013 (10th

-11th

day)

Complaint : No fever, no vommiting




P90 106/65 mmgHg, P95 110/69 mmHg, P99 : 117/76 mmHg,

Krisis 165/113 mmHg





Heart :







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below costal arch, spleen palpable Schuffner IV



Hemoglobin : 10.7 g/dL Hematocrit : 32% Leukocyte : 1.300/mm3 Thrombocyte : 7.000/mm3 Diff Count : 0.2/0.3/0/15.1/74.4/10 ANC : 196.3 Ureum : 40 mg/dl Creatinin : 0,7 mg/dlGFR 76 % Uric acid : 4.3 mg/dl Total protein : 5.6 mg/dl Albumin : 3.1 mg/dl Na : 132 mEq/l K : 4.6 mEq/l Cl : 103 mEq/l Ca : 8.1 mg/dl Blood culture : no growth

Working diagnosis

Acute lymphoblastic leukemia B Lineage induction phase week 0 Dilated Cardiomyopathy


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Thyphoid Fever Hypertension grade II Neutropenia Overweight

Treatment

Furosemide injection 2x20mg IV Dexamethasone tab as scheachuled Chloramphenicol 3x500mg per oral (until 02-05-2013, 10 days) Digoxin 3x0.09mg Captopril 3x6.25mg Paracetamol syrup 3x1 cth (250 mg) if needed Isolation room

Planning

Chemotherapy as scheachuled Echocardiografi 18-05-2013

May 3 - 8, 2013 (12th

-17th

day)

Complaint : No fever, no vomiting, intake (+)








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Heart :











Hemoglobin : 8.4 g/dL Hematocrit : 26.9% Leukocyte : 1.190/mm3 Thrombocyte : 48.000/mm3 Diff Count : 0/1.7/0/10.1/83.2/5 ANC : 120 Ureum : 63 mg/dl Creatinin : 0,6 mg/dl LDH : 1064 Na : 138 mEq/l


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K : 4.4 mEq/l Cl : 99 mEq/l Ca : 10.4 mg/dl

Working diagnosis

Acute lymphoblastic leukemia B Lineage induction phase week 1 Dilated Cardiomyopathy History of Hypertension grade II Neutropenia Overweight

Treatment

Vincristine injection IV 1 mg (07-05-2013) Furosemide injection 2x20mg IV for 5 days until 06-05-2013 Cotrimoxasole syrup 1x1 cth for 2 days (4-5 may 2013) Dexamethasone tab 3-3-2 Digoxin 3x0.09mg Captopril 3x6.25mg for 3 days untul 04-05-2013 Paracetamol syrup 3x1 cth (250 mg) if needed Isolation room

Planning

Chemotherapy as scheachuled Echocardiografi 18-05-2013


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May 8 - 14, 2013 (18th

-24th

day)

Complaint : fever (+), no vomiting, intake (+)








Heart :










Laboratorium

10-05-2013 13-05-2013

Hemoglobin : 9.4 g/dL 7.9 g/dl Hematocrit : 26.9% 21.5%


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Leukocyte : 1.300/mm3 1.900/mm3 Thrombocyte : 43.000/mm3 48.000/mm3 Diff Count : 0/0/0/8/90.4/1.6 0/0/4/14/80/2 ANC : 104 342 Ureum : 32 mg/dl Creatinin : 0.4 mg/dl LDH : 422 Na : 142 mEq/l K : 4.02 mEq/l Cl : 106.2 mEq/l Ca : 10.6 mg/dl

Working diagnosis

Acute lymphoblastic leukemia B Lineage induction phase Dilated Cardiomyopathy Neutropenia Overweight

Treatment

Methrotrexate 10 mg intatekal (14-05-2013) Vincristine 1 mg IV (14-05-2013) Ceftriaxone injection 2x650mg IV for 6 days (May 8-14 2013) Gentamicin Injection 1x80mg IV for 6 days (May 8-14 2013) Dexamethasone tab 3-3-2 Digoxin 2x0.09mg Paracetamol syrup 3x1 cth (250 mg) if needed


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Isolation room

Planning

Packed red cell transfusion 200 cc pre furosemide 8mg IV (13-05-2013) Chemotherapy as scheachuled Echocardiografi 18-05-2013

May 15 - 18, 2013 (18th

-21th

day)

Complaint : fever (+), no vomiting, intake (+)








Heart :



-

Percussion : left margin : linea midclavicularis sinistra.

Right margin : linea parasternalis dextra.






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Laboratorium

18-05-2013

Echocardiografi

2D : Sinus Solitus

AV-VA concordance

Heart chamber was normal

Not found VSD, ASD and PDA

Aortic arch is at the left side of the heart, no coartion of the aortic arch

M-mode : left ventrikel systolic function normal (EF 87%, FS 54%), LA/AO 0.85

Conclusion : normal intracardiac

Suggestion : theres no contraindication to give sitostatika drugs

Working diagnosis

Acute lymphoblastic leukemia B Lineage induction phase Neutropenia Overweight

Treatment

Digoxin 3x0.09mg until 18-05-2013 (20 days) Paracetamol syrup 3x1 cth (250 mg) if needed Isolation room


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Planning

Chemotherapy as scheachuled

DISCUSSION

Dilated cardiomyopathy (DCM) refers to congestive cardiac failure secondary to dilatation

and systolic dysfunction (with or without diastolic dysfunction) of the ventricles

(predominantly the left ventricle). DCM is the most common type of heart muscle disease in

children. All 4 cardiac chambers are dilated and are sometimes hypertrophied. Dilation is

more pronounced than hypertrophy, and the left ventricle is affected more often than the right

ventricle. The cardiac valves are intrinsically normal.

8

Injury to the myocardial cell is the initiating factor that leads to cell death. If

considerable cell loss occurs, the myocardium fails to generate enough contractile force to

produce adequate cardiac output. This results in the activation of the following compensatory

mechanisms: The renin-angiotensin-aldosterone system, sympathetic stimulation, antidiuretic

hormone production, release of atrial natriuretic peptide. These compensatory mechanisms

help to maintain cardiac output in the initial phase; however, as myocardial damage

progresses, persistent and excessive activation can be detrimental to cardiac function, leadingto overt congestive heart failure. Over-stretching of the ventricles causes myocardial

thinning, cavity dilation, secondary valvular regurgitation, and compromised myocardial

perfusion. The resulting subendocardial ischemia perpetuates myocyte damage.8

Myocardial remodeling is an important contributor to worsening heart failure. Lost

myocyte cells are replaced with fibrous tissue, thereby decreasing the compliance of one or

more ventricles and adversely affecting performance. Aldosterone, angiotensin II,

catecholamines, endothelins, and mechanical factors, such as excessive myocardial stretch

and ischemia, have been identified as mediators of remodeling.8

The most common presentation of DCM is with signs and symptoms of overt cardiac

failure. In infants, this will usually manifest as feeding difficulties, whereas older children

will usually report a reduction in exercise tolerance, dyspnoea, or oedema.2,3,9

In this case, from the history of illness we didnt found any symptoms like reduction

in exercise tolerance, dyspnoea, oedema and feeding difficulties. From physical examination

we found the vital sign in normal limit, the heart palpation , ictus cordis palpable at the


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4thintercostals space at 1 cm lateral from linea midclavicularis sinistra, percussion of the heart

left margin was 1 cm lateral linea midclavicularis sinistra. Freom the physical examination

we can said that the heart is larger.

Although the etiology of the majority of DCM cases remains unknown even after

extensive investigation, it is important to thoroughly exclude potentially reversible causes of

the DCM. Studies estimate that a definitive cause can be found in around 30-40% of DCM

cases. Table 1 outlines most of the possible underlying etiologies, with the remainder being

classified as idiopathic DCM. This is a diagnosis of exclusion, and at first presentation an

extensive of panel of investigations should be performed, with the aim of identifying the

conditions outlined below.8

Table 1 : Secondary Causes of dilated cardiomyophaty.8


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From table 1 we can see that leukemia and anemia are etiology and risk factor of

DCM. This patient had anemia, although her family didnt know since when her child look

pale. Because theres no history of bleeding in this patient, anemia in this patient can be the

complication of leukemia.

In chronic severe anemia, low Hgb reduces systemic vascular resistance (SVR)10as

the result of decreases in blood viscosity and enhanced nitric oxide-mediated

vasodilation11,12. Low SVR reduces blood pressure (BP) and causes baroreceptor-mediated

neurohormonal activation10. The increased sympathetic and renin-angiotensin activity

decreases RBF and glomerular filtration rate, resulting in salt and water retention by the

kidneys and expansion of the extracellular and plasma volumes. The combined effect of

volume expansion and vasodilation increases the cardiac output

10

, which may help to increaseoxygen transport. We can see the mechanism in figure 1. The increased myocardial workload

due to hemodynamic and neurohormonal alterations observed in chronic anemia10 could

cause adverse LV remodeling. LV hypertrophy and dilation are observed in animal models of

severe anemia13, and they may contribute to poor outcomes. Hemoglobin may be inversely

related to ejection fraction (EF)14,15, and whereas anemia is related to brain natriuretic peptide

(BNP), a marker of LV dysfunction, anemia remains an independent predictor of adverse

outcomes in the presence of BNP and EF, suggesting that these variables may have their

effect through different mechanisms.14 How long anemia condition can become

cardiomyophaty still unknown. Until now theres no data support it.

Figure I : Possible Sequence of Events Involved in the Pathogenesis of Heart Failure

in Chronic Severe Anemia.16


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Cardiovascular complications may occur in children with acute leukemia as a result of

anemia, infection, chemotherapy, or leukemic infiltration of the myopericardium.6Acquired

cardiac complications are more common than those due to cardiac leukemic infiltration.6

Microscopic leukemic infiltration of the cardiac muscle and pericardium has frequently been

observed during post mortem examinations in patients with acute leukemia. Extranodal

malignant leukemias or lymphomas involving only the heart without dissemination is

extremely rare and very few antemortem cases have been reported. gross disease, particularly

at the time of initial leukemia diagnosis, is rare.7

We diagnosed this patient with dilated cardiomyophaty from echocardiography. From

the echocardiography result from 27-04-2013, the conclusion are Cardiomyopathy dilated

with decreased heart contractility (EF 29%, FS 13%, LA/AO 1,79) and given digoxin 0.01mg/kgBB divided into 2 doses, and planning to perform echocardiografi 3 weeks again.

Acute lymphoblastic leukemia is an acute, rapidly progressing form of leukemia that

is characterized by the presence in the blood and bone marrow of large numbers of unusually

immature white blood cells destined to become lymphocytes. Acute lymphoblastic leukemia

is also called acute lymphocytic leukemia and is abbreviated ALL. 17-19 ALL is the most

common cancer occurring in children, representing almost 25% of cancer among children.

Approximately 2,000 children less than 15 years of age diagnosed with ALL in the USA each

year. It has a striking peak incidence between 2-5 years of age and occurs more frequently in

boys than in girls, at all ages.18,20,21

In virtually all cases, the etiology of ALL is unknown, although several genetic and

environmental factors are associated with childhood leukemia. Although the cause of ALL in

humans is unknown, leukemic transformation is unlikely to be the result of a single event but

rather the culmination of multiple processes involving complex interactions between host

susceptibility, chromosomal damage secondary to physical or chemical exposure.17-19

The clinical features of ALL are variable and are associated with the classification of

the disease. PrecursorB-cell ALL is primarily a disease of children, with 75% of cases

presenting in children less than 6 years of age and accounting for 80% to 85% of ALL in the

majority of patients with ALL. The clinical presentation is variable, and the symptoms may

appear insidiously or acutely, depending on the extent of disease. Patients commonly present

with a short history of fatigue, or spontaneous bleeding. 17,18Malaise, lethargy, weight loss,

fevers and night sweats are often present but typically are not severe. Compared to acute


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myeloid leukemia (AML), patients with ALL experience more bone and joint pain. Rarely,

they may present with asymmetric arthritis or low back pain. Children experience these

symptoms more frequently than adults. Young children may have difficulty walking due to

bone pain. CNS involvements is also more common in ALL compared to AML. Nausea,

vomiting, headache or papilloedema may results from meningeal infiltration. Testicular

involvements, presenting as painless, unilateral mass, is noted at diagnosis in approximately

2% of boys. The physical examination is often notable for pallor, generalized

lymphadenopathy, sign associated with thrombocytopenia, such as gingival bleeding,

epistaxis, petechiae/ecchymoses, or fundal hemorrhages and hepatosplenomegaly.

Lymphadenopathy, hepatosplenomegaly, and other extramedullary involvements are frequent

in precursor B-cell ALL.21-23

In this case, from the history of illness we found the symptoms pallor and also history

of fever with nausea, vomiting. From physical examination we also found conjunctiva

anemia, lymphadenopathy and hepatosplenomegaly.

The diagnosis ALL can be made by history of illness, physical examination and

laboratory finding. History of illness and physical examination is already discussed in the

above. ALL can usually be diagnosed from the presence of blast cell in the peripheral blood,

a bone marrow aspiration, cytochemical staining characteristics, immunophenotype, and

cytogenetic features. The diagnosis ALL is strongly suggested by peripheral blood findings

indicative of bone marrow failure. Anemia (hemoglobin < 10g/dl) and thrombocytopenia

( 10.000/mm3occurs in half of

patients, but only 20% of patients with the initial leukocyte count is greater than 50.000/mm3.

ALL is diagnosed by a bone marrow evaluation that demonstrates more than 25% of the bone

marrow cells as a homogeneous population of lymphoblast. The morphological recognition of

lymphoblast in the blood and bone marrow and their phenotypic characterization are of majorimportance to the correct diagnosis and classification of ALL. Immunophenotyping of

leukaemic lymphoblasts by flow cytometry is essential to establish the correct diagnosis and

define cell lineage. Although acute lymphoblastic leukemia can be readily sub classified

according to the many steps of normal B-cell and T-cell differentiation, the only findings

with therapeutic importance are T-cell, mature B-cell, and B-cell precursor phenotypes. We

must also determine the prognostic factors for every patient with ALL to choice of the

treatment protocol because the single most important prognostic factor in ALL is the

treatment. The important predictive factors are age, gender, the initial leukocyte count, CNS


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leukemia, peripheral blast count 1 week after the first chemotherapy, abnormality

chromosome, phenotype and mediastinal mass. A chest radiograph is necessary to determine

whether there is a mediastinal mass or not. Patients considered to be at higher risk are

children who are older than 10 years or less than 1 year of age or who are have an initial

leukocyte count of more than 50.000/mm3, have mediastinal mass, CNS leukemia and

peripheral blast count 1000.22,23

We do the laboratory examination for this patients, the haemoglobin level just 6.5

g/dl, white blood cell count 81.500/mm3, thrombocytopenia 11.000/mm3, differential count

0/1.7/0/10.1/82/5 with lymphoblast 76.4% in bone marrow aspiration result, absolute

neuthropil count/ANC just 120, and result of blood smear is acute lymphoblastic leukemia.

The result of phenotype is B-cell precursor phenotypes. we was already done the chest x-rayexamination for this patients to know about mediastinal mass, but in this patients the chest x-

ray was no abnormality. Based on the history of illness, physical examination and laboratory

finding, we able to diagnose this patient as ALL B-cell precursors. We use Indonesian

protocol ALL High risk 2006 for this patients, it means that the prognosis is poor.

Doxorubicin in the first 3 weeks because this patient had dilated cardiomyophaty.

Cardiomyopathy resolved after digoxin therapy. We done the echocardiografi again 3 weeks

after treatment and the intracardiac was normal. After that we gave doxorubicin again as

treatment. Every Friday until Sunday we give cotrimoxazole for prophylactic to pneumonia.

We give this patient digoxin 0.01 mg/kg divided into 2 doses for 20 days. This drug,

also referred to as digitalis, increases the strength of your heart muscle contractions. It also

tends to slow the heartbeat. Digoxin reduces heart failure symptoms and improves your

ability to live with dilated cardiomyopathy. Digoxin improves myocardial contractility,

reduces heart rate, and lowers sympathetic stimulation in chronic heart failure. It inhibits the

Na+-K+ ATPase pump. Sodium preferentially exchanges with calcium, increasing theintracellular calcium and resulting in an increase in contractility.17After 20 days of digoxin

treatment and packed red cell transfusion, the echocardiografi result was normal, Complete

recovery of LV function is possible in children with IDC. Recovery may occur within the

first year after initial examination in some patients, but longer periods are needed in the

majority of patients in whom LV function ultimately returned to normal.25

Prognosis of this patient is dubia at malam, because from beginning the patient

diagnosed with high risk ALL.


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Circulation. 2006;113:1807-1816.

3. Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilatedcardiomyopathy in children. JAMA 2006; 296: 1867-76.

4. Arola A, Jokinen E, Ruuskanen O, et al. Epidemiology of idiopathic cardiomyopathies inchildren and adolescents: a nationwide study in Finland. Am J Epidemiol. 2000;146:385-

393.

5. Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathyin two regions of the United States. N Engl J Med. 2003;348:1647-1655.

6. Hunkeler, N, Canter, C.E. Antemortem diagnosis of gross cardiac metastasis inchildhood leukemia: echocardiographic demonstration, Pediatr. Cardiol 1990. 11, 225

226.

7. Sumners, J.E, Johnson, M.S, Ainger, L.E. Childhood leukemic heart disease: a study of116 hearts of children dying of leukemia, Circulation 1999, 40, 575581.

8. Dadlani GH, Harmon WG, Lipshultz SE. Dilated cardiomyopathy. In: Chang AC,Towbin JA, eds. Heart failure in children and young adults. Philadelphia: Saunders

Elsevier, 2006; 248-263.


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9. Daubeney PE, Nugent AW, Chondros P, et al. Clinical features and outcomes ofchildhood dilated cardiomyopathy: results from a national population-based study.

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haemodynamic variables, and plasma hormones. Br Heart J 2000;70:35762.

11.Ni Z, Morcos S, Vaziri ND. Up-regulation of renal and vascular nitric oxide synthase iniron-deficiency anemia. Kidney Int 1997;52: 195201.

12.Anand IS, Chandrashekhar Y, Wander GS, Chawla LS. Endothelium-derived relaxingfactor is important in mediating the high output state in chronic severe anemia. J Am Coll

Cardiol 1995;25:14027.

13.Olivetti G, Quaini F, Lagrasta C, et al. Myocyte cellular hypertrophy and hyperplasiacontribute to ventricular wall remodeling in anemia induced cardiac hypertrophy in rats.

Am J Pathol 2002;141:22739.

14.Anand IS, Kuskowski MA, Rector TS, et al. Anemia and change in hemoglobin over timerelated to mortality and morbidity in patients with chronic heart failure: results from Val-

HeFT. Circulation 2005;112:11217.

15.OMeara E, Clayton T, McEntegart MB, et al. Clinical correlates and consequences ofanemia in a broad spectrum of patients with heart failure: results of the Candesartan in

Heart Failure: Assessment of Reduction in Mortality and Morbidity (CHARM) Program.

Circulation 2006;113:98694.

16.Inder S, Anand. Anemia and chronic heart failure. Journal of the American College ofCardiology 2008;52;501-511.

17.Tubergen DG, Bleyer Archie. The Leukemias: Behrman RE, Kleigman RM, Jenson HB,Stanton BF. Nelson textbook of Pediatrics 18th ed. Philadelphia; WB Saunders Company,

2007: 2116-22.

18.Kebriaei Partow, Anastasi John, Larson RA. Acute lymphoblastic leukemia: diagnosisand classification. Section of hematology oncology university of Chicago. 2003: 597-621.

19.Permono Bambang, Ugrasena IDG. Leukemia Akut: Permono HB, Sutaryo, UgrasenaIDG, Windiastuti Endang, Abdulsalam Maria. Buku Ajar Hematologi-Onkologi Anak.

Ikatan Dokter Anak Indonesia. 2006: 236-47.


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20.Savage E, Riordan AO, Hughes M. Quality of life in children with acute lymphoblasticleukaemia: a systematic review. University College Cork, Ireland. 2009: 36-48.

21.Magrath I, et al. Treatment of acute lymphoblastic leukemia in countries with limitedresources; lessons from use of a single protocol in India over a twenty year period.

International Network for Cancer Treatment and Research, Belgium. 2005: 1570-83.

22.Will Andrew. Update on leukemia. Elsevier. 2007: 107-11.23.Park Yong, et al. The suggestion of risk stratification system for febrile neutropenia in

patients with hematologic disease. Korea University. 2010: 294-300.

24.Tubergen DG, Bleyer Archie. The Leukemias: Behrman RE, Kleigman RM, Jenson HB,Stanton BF. Nelson textbook of Pediatrics 18thed. Philadelphia; WB Saunders Company,

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25.Alan B, Lewis. Late recovery of ventricular function in children with idiopathic dilatedcardiomyopathy. American Heart Journal. 1999:138:334-8.


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Protokol ALL High Risk


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Nutrition Status


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Thorax Photo


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Echocardiography 27-04-2013


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Echocardiography 18-05-2013


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Electrocardiography

mikropenis and hipospadia in child

Documents

dilated cardiomyopathy

hypertrophic cardiomyopathy

antemortem cases

overall incidence

heart muscle disorders

cardiac leukemic infiltration

incidence ofdcm

pure forms