A case of Currarino's syndrome presenting as neonatal bowel obstruction.
We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36.
Department of Surgical Paediatrics, Royal Hospital For Sick Children, Yorkhill, G3 8SJ, Glasgow, United Kingdom.
Prabhu
P
Sekaran
Nicola
N
Brindley
D000328:Adult; D001003:Anal Canal / Q000002:abnormalities / Q000601:surgery; D002585:Cesarean Section; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003248:Constipation / Q000209:etiology; D004252:DNA Mutational Analysis; D057210:Delayed Diagnosis; D004065:Digestive System Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000151:congenital / Q000209:etiology* / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008297:Male; D009436:Neural Tube Defects / Q000209:etiology; D011183:Postoperative Complications; D011859:Radiography; D012007:Rectum / Q000002:abnormalities / Q000601:surgery; D012447:Sacrum / Q000002:abnormalities / Q000601:surgery; D013125:Spinal Neoplasms / Q000150:complications / Q000151:congenital / Q000000981:diagnostic imaging / Q000601:surgery; D013595:Syringomyelia / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D013724:Teratoma / Q000150:complications / Q000151:congenital / Q000000981:diagnostic imaging / Q000601:surgery; D014157:Transcription Factors / Q000235:genetics; D016055:Urinary Retention / Q000209:etiology; D014718:Vesico-Ureteral Reflux / Q000209:etiology
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors