Magnetic resonance imaging "tigroid pattern" in Alexander disease.

[alexander disease]

Alexander disease (AD ) is a rare white matter disorder resulting from mutations in the gene encoding for the glial fibrillary acidic protein . Diffuse white matter involvement with frontal predominance is typical of infantile AD that is clinically characterized by progressive motor and mental retardation , seizures , and megaloencephaly . We describe the case of a 10 -year -old patient harboring a de novo missense mutation c .235 C > T (p .R 79 C ) in the GFAP gene , showing a relatively slow clinical and neuroradiologic progression of disease associated with a previously unreported magnetic resonance imaging (MRI ) finding consistent with the so -called tigroid pattern . This pattern has been previously described in only a few different neurologic conditions , including Pelizaeus-Merzbacher disease and some lysosomal disorders . This report expands the spectrum of MRI features in AD .

Diseases
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Diseases presenting "and megaloencephaly" symptom

alexander disease

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