Rare Diseases Symptoms Automatic Extraction

Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl.

[alexander disease]

Alexander disease is a rare form of leukodystrophy with a highly variable clinical course. Occasionally night-time nausea and vomiting are the first symptoms of juvenile Alexander disease. A 7-year-old girl had recurrent night-time vomiting and her growth and weight gain had deteriorated after her sixth birthday. Cranial MRI demonstrated two small, symmetrical focal areas of abnormally high signal intensity in the dorsal medulla oblongata on T2-W and FLAIR images. These were suggestive of juvenile Alexander disease, and subsequent sequencing of the glial fibrillary acidic protein (GFAP) gene revealed a heterogeneous missense mutation in the GFAP gene in exon 6. Alexander disease should be considered in young patients with atypical anorexia nervosa-type symptoms.

Diseases presenting "heterogeneous missense mutation" symptom

  • alexander disease

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