Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter

• Published in: Journal of pediatric surgery 2013, Vol.48 (1), p.233-238
• Main Authors: Ohno, Koichi, Nakamura, Tetsuro, Azuma, Takashi, Nakaoka, Tatsuo, Takama, Yuichi, Hayashi, Hiroaki, Horiike, Masaki, Zenitani, Masahiro, Higashio, Atsushi
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adult; Anal Canal - abnormalities; Caudal regression syndrome; Currarino syndrome; Digestive System Abnormalities - diagnosis; Digestive System Abnormalities - genetics; Enteric nerve system; Female; Heredity; Hirschsprung disease; Hirschsprung Disease - diagnosis; Hirschsprung Disease - genetics; Humans; Infant, Newborn; Neural tube defect; Pediatrics; Rectum - abnormalities; Sacrum - abnormalities; Split notochord syndrome; Surgery; Syringomyelia - diagnosis; Syringomyelia - genetics
• ISSN: 0022-3468; 1531-5037
• DOI: 10.1016/j.jpedsurg.2012.10.061

Abstract Currarino syndrome with Hirschsprung disease (CS-HD) is extremely rare. We present the first family with CS-HD. Case 1: A 28-year-old woman was admitted with severe abdominal distension and dyspnea. She was diagnosed with anal stenosis, hemisacrum, anterior sacral meningocele (ASM), tethered cord (TC), and short-segment aganglionosis. She underwent the modified Duhamel operation after meningocele repair and cord detethering. A bicornuate uterus, bilateral ovarian dermoid cysts, and small rectal duplication were also noted intraoperatively. Case 2: The daughter of case 1 was admitted for abdominal distension and anal stenosis at the age of 17 days. Studies revealed a hemisacrum, ASM, TC, presacral mass, atrial septal defect, polyp in the right nasal cavity, right vesicoureteral reflux, and short-segment aganglionosis. She underwent the modified Soave operation at the age of 1 year and 4 months after meningocele repair, cord detethering, and resection of the presacral mass (epidermoid cyst). In both cases, the aganglionic segments were confirmed by preoperative rectal suction biopsy and postoperative pathological examination on full-thickness rectal specimens. Some causal genes for Currarino syndrome (CS) and Hirschsprung disease (HD) are currently investigated. Thus far, 10 CS-HD cases have been reported, including 6 cases of familial CS. However, all the patients had sporadic HD. Recent reports suggest that anomalies of the enteric nerve system contribute to postoperative constipation in CS cases.