[Neurologic involvement in "incontinentia pigmenti" (Bloch-Sulzberger syndrome). Report of three cases (author's transl)].
"Incontinentia pigmenti" its a rare familial disorder of unknown origin characterized by a distinctive dermatosis, almost exclusive occurrence in females, and developmental abnormalities that affect hair, eyes, teeth and central nervous system. 30.5% of cases described in the world literature had notable C.N.S. disease. Authors report three cases of I.P. in pathognomonic pigmented stage and with severe neurologic involvement. In two cases pneumoencephalography show severe cerebral cortical atrophy. Patients had motor and mental retardation, abnormal E.E.G. and one of them a West syndrome. The third case died at the age of three months, and neuropathological examination of the brain revealed porencephalic lesions.
D000015:Abnormalities, Multiple / Q000150:complications*; D001284:Atrophy; D001706:Biopsy; D001921:Brain / Q000002:abnormalities*; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications; D010859:Pigmentation Disorders / Q000150:complications* / Q000473:pathology; D012867:Skin / Q000473:pathology; D013577:Syndrome
Afectación neurológica en la "incontinentia pigmenti" (síndrome de Bloch-Sulzberger). Estudio de tres casos.