Hirschsprung 病を併発した van der Woude 症候群の1例 A case of van der Woude syndrome with Hirschsprung disease
We report a case of van der Woude syndrome associated with Hirschsprung disease. The patient was delivered vaginally. Our department was consulted because of cleft lip and palate (CLCP). After cheiloplasty, the department of pediatric surgery was consulted because of continuous vomiting. Hirschsprung disease was diagnosed.<BR>Hirschsprung disease occurs in 1/5, 000 live births and is caused by defective development of embryonic neural crest cells at the vagal level, leading to intestinal obstruction. The patients show severe vomiting and constipation, but owing to improved surgical techniques, the number of curable patients is increasing. Our patient received radical treatment and has no difficulty in eating or excretion at present.<BR>Several reports have described patients with CLCP and Hirschsprung disease, and all have had mental retardation. Moreover, there are several syndromes associated with both CLCP and Hirschsprung disease, such as Goldberg-Shprintzen syndrome, Waardenburg syndrome, and Smith-Lemli-Opitz syndrome. Each syndrome has their own differential diagnosis, but our patient did not meet the diagnostic criteria. We gave our patient a diagnosis of van der Woude syndrome combined with Hirschsprung disease for the present.<BR>However, mental retardation cannot be ruled our in this patient, and he might have other congenital malformations that have not been identified. If so, he may have a subtype of a syndromic disease.
日本口腔外科学会雑誌 52(4), 234-237, 2006-04-20
Japanese Society of Oral and Maxillofacial Surgeons