A Novel Mutation in the Adult-Onset Alexander’s Disease GFAP Gene

The case describes a 25-year-old Caucasian female diagnosed with Alexander’s disease (AxD) as an outpatient after extensive inpatient workup. Her presenting complaints included incontinence, clumsiness, seizures, dysphagia, and dysarthria. She was also found to have pancytopenia and dysautonomia. A...

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Bibliographic Details
Published in:	Case reports in medicine 2019-01, Vol.2019, p.2986538-4
Main Authors:	Zaver, Dhillon B., Douthit, Nathan T.
Format:	Article
Language:	eng
Subjects:	Age Ataxia Bone marrow Case Report Consciousness Dysautonomia Dysphagia Families & family life Family medical history Genetic analysis Glial fibrillary acidic protein Leukodystrophy Mutation Neurology Pancytopenia Seizures Toxicology Trauma Vigilance West Nile virus
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Summary:	The case describes a 25-year-old Caucasian female diagnosed with Alexander’s disease (AxD) as an outpatient after extensive inpatient workup. Her presenting complaints included incontinence, clumsiness, seizures, dysphagia, and dysarthria. She was also found to have pancytopenia and dysautonomia. A full neurologic and hematologic workup yielded very little results, until a thorough literature search of her presenting complaints and radiologic findings pointed to adult-onset Alexander’s Disease. Alexander’s disease is a rare genetic leukodystrophy with a broad variety of presentations. Despite its infrequency in adults and the difficulty in diagnosis, the prevalence of AxD has been increasing due to ease of genetic analysis and identification of key clinical and radiological findings. This case illustrates the necessity of vigilance and persistence in the face of unusual patient presentations; occasionally, the sound of hoofbeats is zebras.
ISSN:	1687-9627 1687-9635