[Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports].
Anatomoclinical study of 3 cases of an exceptional malformative condition characterized by: --extreme shortness of the small intestine, --mesenterium commune, --hypertrophic pylorus, --malformation of the central nervous system (heterotopia, absence of operculum temporale). Clinically this malformative condition is characterized by failure and inertia of the intestinal peristalsis producing at intervals of 10-15 days episodes of subocclusion, the repetition of which causes death. The syndrome is familial and seems to be of autosomal recessive inheritance. The absence of mechanical obstruction, the repeated failure of colostomy and ileostomy, the normal aspect of the myenteric plexuses verified by cytoenzymatic and silver stains allow to individualize this anatomoclinical syndrome and to rule out the hypothesis of Hirschsprung's disease, Chagas' disease, idiopathic megacolon or hypoplasia of the myenteric plexuses. The association of cerebral malformations leads to consider the responsibility of a lack of synthesis of a same specific intermediate factor which is up to now poorly determined, implicated in the neuronal migration and neuromuscular transmission.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D000013:Congenital Abnormalities / Q000473:pathology; D004065:Digestive System Abnormalities; D006801:Humans; D006984:Hypertrophy; D007231:Infant, Newborn; D007421:Intestine, Small / Q000002:abnormalities; D008643:Mesentery / Q000002:abnormalities; D009197:Myenteric Plexus / Q000473:pathology; D010375:Pedigree; D011707:Pyloric Stenosis / Q000150:complications; D013577:Syndrome
Syndrome familial associant grêle court, malrotation intestinale, hypertrophie du pylore et malformation cérébrale. Etude anatomo-clinique de trois observations