[Adult form of Niemann-Pick disease associated with Osler-Rendu-Weber syndrome. Report of a case].
The case of a 28-year-old female with an adult form of Niemann-Pick disease is described. The illness started at the age of 22 years. The characteristics actually established in the adult form of this lipidosis were discussed. Vision was impaired but there was no clinical evidence of importnat visual involvement. Neurologic and psychiatric examinations were always normal. The bone marrow contained foam cells. A cherry red spot was present in the macula. An uncommon association with Osler-Rendu-Weber disease was described. The patient maintained normal clinical and neurological conditions, that is, she continues to show an extraordinarily benign course with poor cerebral participation represented by a moderate localized cortical atrophy seen at the pneumoencephalogram.
D000328:Adult; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000473:pathology; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000473:pathology; D014786:Vision Disorders / Q000209:etiology
Doença de Niemann-Pick forma do adulto associada a sindrome de Osler-Rendu-Weber. Registro de um caso.