[Early infantile autism and excessive aerophagy with symptomatic megacolon and ileus in a case of Ehlers-Danlos syndrome].
A case of Ehlers-Danlos syndrome is reported, which was associated with mental retardation and early infantile autism. The patient died at the age of 19 by ectasy of the stomach as the result of extreme aerophagy causing a megacolon and by compression so finally resulting in a mechanical ileus. Investigation of the cerebellum revealed a significant rarefication and diminuation of the Purkinjè cells as well as the cells of the stratum granulare in the lobuli VI and VII, obviously due to a genetically determined malformation.
Fehlow
P
P
Landesfachkrankenhaus für Psychiatrie und Neurologie Mühlhausen/Thüringen, Deutschland.
Bernstein
K
K
Tennstedt
A
A
Walther
F
F
D000293:Adolescent; D000334:Aerophagy / Q000235:genetics / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000473:pathology*; D006627:Hirschsprung Disease / Q000235:genetics / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D007415:Intestinal Obstruction / Q000235:genetics / Q000473:pathology*; D008297:Male; D008531:Megacolon / Q000235:genetics / Q000473:pathology*; D011689:Purkinje Cells / Q000473:pathology
Autismus infantum und exzessive Aerophagie mit symptomatischem Megakolon und Ileus bei einem Fall von Ehlers-Danlos-Syndrom.