Hirschsprung 病を合併した13q-症候群の1例

概要

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An 11day-old boy with 13q-syndrome associated with Hirschsprung's disease is reported. He was admitted to the NICU in our hospital because of SFD. Abdominal distension and vomiting had been seen since he was 5 days old because of Hirschsprung's disease. Diagnosis of Hirschsprung's disease was established and a colostomy was performed at 13 days of age. A cytogenetic study was carried out and interstitial deletion of the distal long arm segment of chromosome 13 was observed. The karyotype was 46, XY, del (13) (q14.3-q32.1). Cases of 13q-syndrome associated with abnormalities of the gastrointestinal tract are rare. Four cases of 13q-syndrome associated with Hirschsprung's disease have been reported, including our case, and in two of them resection of the affected segment was performed. At 7 months of age, his body weight is only 5200g, there is evidence of mental retardation and attacks of cyanosis are sometimes seen.
日本小児外科学会の論文
1992-08-20