[Familial form of total digestive aganglionosis with absence of nerve fibers].
Two familial cases of intestinal aganglionosis with lack of innervation concerning the whole digestive tract from the rectum to the esophagus are reported. The relationships between this histologic picture and that found in classical Hirschsprung's disease are discussed. The lack of obstructive symptom makes the diagnosis difficult; however, it should be suspected in the presence of intraluminal calcifications in the small bowel. The familial incidence of the condition seems to be high. A recessive autosomal transmission is likely. Neurologic signs resembling those in dysautonomia lead to suspect an extensive disorder of the development of the neural crest.
D003937:Diagnosis, Differential; D004402:Dysautonomia, Familial / Q000175:diagnosis; D004947:Esophagus / Q000294:innervation; D005260:Female; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007422:Intestines / Q000294:innervation*; D009412:Nerve Fibers
Forme familiale d'aganglionose digestive totale avec absence de fibres nerveuses.