Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report.

[alexander disease]

Alexander disease is a rare disorder resulting from a glial fibrillary acidic protein gene mutation which causes progressive degeneration of white matter . With the Â usual poor prognosis , there are few case reports with long -term follow-up . We report the five -year clinical course of Alexander disease in one case using serial magnetic resonance Â imaging .A 12 -month -old Japanese male was referred to the pediatrics department in our hospital because of developmental retardation . Alexander disease was diagnosed by gene examination of the mutation of a glial fibrillary acidic protein . Magnetic resonance imaging Â findings showed abnormalities in white matter , deep gray Â matter , and medulla oblongata . Serial Â magnetic resonance imaging Â examinations until the age of five were performed and changes in Â magnetic resonance imaging Â findings were compared to the progression in clinical symptoms .Alexander disease is a very rare disease with a variety of clinical phenotypes . Therefore serial Â magnetic resonance imaging Â studies for long -term survival infantile cases including our case may be important in the analysis of the pathophysiological mechanism .

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Diseases presenting "infantile cases" symptom

alexander disease

malignant atrophic papulosis

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