[Cornelia de Lange syndrome (I) with analgesia].
The case of a boy, observed from 9-17 years of age, with de Lange syndrome is described. The typical symptoms of the de Lange syndrome (brachymicrocephalie, characteristic face, hypertrichosis, typical form of the hand, debility and proportioned shortening) were combined with intensivity to pain and psychomotoric epilepsy. He showed a strikingly aggressive behaviour and simultaneous masochism with self-mutilation as it is typical for analgesia congenita. The autopsy showed cortical heterotopias of the brain and slight microgyria.
Fehlow
P
P
Tennstedt
A
A
D000293:Adolescent; D002540:Cerebral Cortex / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D000699:Pain Insensitivity, Congenital / Q000175:diagnosis* / Q000473:pathology; D013577:Syndrome
Cornelia-de-Lange-Syndrom (I) mit Analgesie.