Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl
作者： Harri Niinikoski , Leena Haataja , Antti Brander , Leena Valanne , Susan Blaser
DOI: 10.1007/S00247-009-1289-3
关键词:
摘要: Alexander disease is a rare form of leukodystrophy with highly variable clinical course. Occasionally night-time nausea and vomiting are the first symptoms juvenile disease. A 7-year-old girl had recurrent her growth weight gain deteriorated after sixth birthday. Cranial MRI demonstrated two small, symmetrical focal areas abnormally high signal intensity in dorsal medulla oblongata on T2-W FLAIR images. These were suggestive disease, subsequent sequencing glial fibrillary acidic protein (GFAP) gene revealed heterogeneous missense mutation GFAP exon 6. should be considered young patients atypical anorexia nervosa-type symptoms.
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