CASE PRESENTATION

DOUBLE JEOPARDYSHESHASHREE SESHADRI MD PGY III

VALLIER OJADI MD DRISCOLL CHILDRENrsquoS HOSPITAL

HOSPITAL COURSE

UGI ndash MALROTATION NOTED WITH GASTRIC SHADOW ON THE RIGHT SIDECXR - SPLIT VERTEBRAL COLUMN MENINGOCELE REPAIRED

SPLIT NOTOCHORD SYNDROME

REFERENCES 1 Split notochord syndrome with prolapsed congenital colostomy Kiristioglu I Teitelbaum DH Dogruyol H J Pediatr Surg 1998 33525-82 Developmental posterior enteric remnants and spinal malformations The split notochord syndrome Bentley JFR Smith JR Arch Dis Child 1960 3576-863 Split notochord syndrome with dorsal enteric fistula in a male neonate a case report Ghritlaharey RK Malik R J Clinic Diagnostic Research 2009 October [cited 2010 June 10] 31797-1800 4 A case of split notochord syndrome a child with neuroenteric fistula presenting with meningitis Van Ramshorst GH Lequin MH Mancini GMS van de Ven CP J Pediatr Surg 2006 41 E19-E235 A rare variant of neuroenteric cyst Split notochord syndrome Jesus LE Franca CG J Pediatr 2004 80 77-80 6 Split notochord syndrome variant prenatal findings and neonatal management Agangi A Paladini D Baglon P Maruotti G M Martinelli P Prenatal Diagnosis Unit Prenatal Diag 2005 Jan25(1)23-77 Split Notochord Syndrome With Neuroenteric Fistula A Rare Malformation Mirza B Sheikh A J Pediatr Neurosci 2011 Jan-Jun 6(1) 87ndash88doi

ASSOCIATED ANOMALIES NEURO Meningocele Neuroenteric cysts Sacral agenesis Duplicated spine or spinal cordsGI Wandering spleen Imperforate anus Duplication cyst Omphalocele Duplication of the mouth tongue mandibleGU Bladder exstrophy Bladder and urethral duplicationORTHOPEDIC Clubfoot

CONCLUSION A multidisciplinary approach is recommended involving a pediatric surgeon pediatric neurosurgeon geneticist and a physiotherapist for the management of disabilities associated with Split Notochord Syndrome Answering parentsrsquo questions about the syndrome and the questions that arise from time to time and giving them realistic expectations about the functioning capacity of the baby is the most important role of a pediatrician

FOLLOW UPBaby D was discharged home on a ventilator with tracheostomyg-tube for feeding intolerance colostomy for imperforate anus needing further surgical intervention in the future and Pediatric Endocrinology follow-up on the phallic structure

DOUBLE AORTIC ARCH WITH BILATERAL DESCENDING AORTA

DEXTROCARDIA

THREE PULMONARY VEINS

Head ultrasound ndash Normal Ophthalmologic exam by Ped Ophthalmologistndash Normal Respiratory ndash Intubated on ventilator Cardiac - ECHO showed situs inversus double descending thoracic aorta and mild narrowing of aortic arch No invasive procedures needed Neurology - Meningocele was repaired Orthopedic - Double vertebral column and absent sacrum and coccyx ndash no surgical intervention required physical therapy ordered Prognosis ndash Functionally child will not be able to ambulate GI ndash Colostomy was performed for imperforate anus Intestinal duplication cyst excised Absent spleen noted ndash decision made to observe GU ndash Ambiguous genitalia evaluated by chromosome analysis and microarray showed 46 XY Posterior phallic structure is still being evaluated Anterior micropenis may require testosterone around puberty

DIFFERENTIAL DIAGNOSIS sup1 Omphalocele Exstrophy Imperforate anus Spinal defect [ OEIS ] Caudal regression syndrome Fetus in fetu Conjoined twins Meningomyelocele or other neural tube defects Neuroenteric cyst Split notochord syndrome

IMAGING

SNS is a very rare congenital malformation of central nervous system involving the brain spinal cord and vertebral column Less than 40 cases of SNS has been reported in US1

Cleft of the vertebral column gives it a picture of butterfly vertebra The cleft is usually noted in the thoracic or lumbar region It is associated with dorsal neuroenteric fistula in about 50 of cases In more than 13rd of cases SNS is also associated with imperforate anus7

EMBRYOLOGY It occurs due to failure of fusion of the lateral ossifications centers of the vertebral bodies The defect appears before the embryo is 63 mm The terminal dorsal part of the enteric fistula which is produced between the endoderm and the ectoderm through a partially duplicated notochord in the development of the embryo remains after obliteration of the fistula and consequently the mucosa of the enteric remnant is inverted and projects through the skin of the back

3D RECONSTRUCTION

HISTORYbullBaby D was born at 40 weeks gestation by Cesarean section to a 16 year-old primigravida mom Apgar scores were 89 Birth weight was 3791 gm length was 445 cm The pregnancy was complicated by an abnormal prenatal sonogram There was no use of medication or illness Family history was unremarkable He was transferred to our facility for further evaluation of multiple congenital anomalies

PHYSICAL EXAM Stable vital signs Respiratory ndash room air Cardiac - S1S2 heard on the right side of the chest no murmur GI ndash Imperforate anus Neuro ndashopen neural tube defect noted in the right thoracolumbar area No motor and sensory function of the lower extremities GU - Posterior phallic structure 2 cm no visible glans Anterior micropenis 1 cm in length noted Extremity ndash left club foot

LABS CBC metabolic panel urinanalysis were normal cultures were negative newborn screen unremarkable

MANAGEMENT

AT THE THORACOLUMBARJUNCTION THE BONY SPINAL COLUMN SPLITS INTO TWO DISCRETE SPINAL COLUMNS

ABSENT SACRUM AND COCCYX

FUSED RIBS

2013 TEXAS PEDIATRIC SOCIETY ELECTRONIC POSTER CONTEST