de Assis J L, Scaff M, Takahashi W
Arq Neuropsiquiatr. 1979 Mar;37(1):71-5. doi: 10.1590/s0004-282x1979000100010.
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.
本文描述了一名28岁成年型尼曼-匹克病女性患者的病例。该疾病始于22岁。文中讨论了这种脂质沉积症成年型的实际特征。患者视力受损，但无重要视觉受累的临床证据。神经和精神检查始终正常。骨髓中可见泡沫细胞。黄斑区有樱桃红斑。文中描述了与奥斯勒-伦杜-韦伯病的罕见关联。患者临床和神经状况保持正常，即她继续呈现出极为良性的病程，脑参与度低，气脑造影显示有中度局限性皮质萎缩。
