Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances.

摘要: A recent article on Alexander disease (AxD)1 made note of the clinical and MRI phenotypic variation that is increasingly seen in this rare progressive leukodystrophy, particularly late-onset slowly cases. AxD caused by mutations gene encoding glial fibrillary acidic protein (GFAP), resulting Rosenthal fiber deposition astrocytes. It most commonly infants with sporadic mutations, who present macrocephaly, seizures, developmental delay. The progresses rapidly to death within 10 years. Adult-onset cases are phenotypically different more brainstem involvement slower progression likely demonstrate autosomal dominant inheritance.1-3 following case highlights previously undescribed features adult-onset AxD. A 38-year-old woman was referred a 2-year history difficulty reading oscillopsia, slurring dysarthria, choking, stumbling. Her early motor intellectual development were normal, she achieved university degree. At age 32 developed amenorrhea lasting 9 months, having had normal periods, …