ABSTRACT
The existence of zonal aganglionosis, a rare variant of Hirschsprung's disease, is often questioned. An extensive enzyme and immunohistochemical study was performed on gut specimens of two patients presenting with bilious vomiting and abdominal distension to find evidence of the existence of double zonal aganglionosis and to characterize the abnormalities of the enteric nervous system. The hypotheses concerning the pathogenesis of this neurogenic disorder are reviewed. The results of our study confirm the existence of zonal aganglionosis. The clinical presentation may be similar to classical Hirschsprung's disease.
Subject(s)
Hirschsprung Disease/pathology , Acetylcholinesterase/analysis , Biopsy , Colon/pathology , Colostomy , Female , Hirschsprung Disease/enzymology , Histocytochemistry , Humans , Ileostomy , Ileum/pathology , Immunologic Techniques , Infant , Male , Muscles/pathology , Rectum/pathologyABSTRACT
Two children are presented with bilateral choanal atresia: a girl with the typical features of the Treacher Collins syndrome, and a boy, a third cousin of the girl, without mandibulo-facial dysostosis. Simultaneous occurrence of choanal atresia and the Treacher Collins syndrome may be based on a defective ossification of the mesenchyme of the first visceral arch. Choanal atresia may be due to nonabsorption of the bucconasal membrane and/or extension of the sphenoid or palate bone.
