[Neurological manifestations of xeroderma pigmentosum].
Xeroderma pigmentosum is a genodermatosis with neurological manifestations in approximately 18p. 100 of cases. Polymorphous and variably associated signs are observed, progressing with the clinical course. The etiology of the neurological breach remains unknown. We report two siblings who had xeroderma pigmentosum with intellectual deficiency, a pyramidal, cerebellar and cordonal syndrome, ophthalmoplegia, and axonal peripheral neuropathy. We discuss the epidemiological, clinical and electrophysiological aspects of the neurological breach in xeroderma pigmentosum.
Boutaleb
N
N
Service de neurologie, Hôpital militaire d'instruction Mohammed V de Rabat, Maroc.
Ouhabi
H
H
Bourazza
A
A
Mosseddaq
R
R
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D009886:Ophthalmoplegia / Q000209:etiology / Q000235:genetics; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D014983:Xeroderma Pigmentosum / Q000150:complications / Q000235:genetics / Q000503:physiopathology*