Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings.

[alexander disease]

Alexander disease (AxD ) is a rare neurodegenerative disorder related to mutations in the glial fibrillary acidic protein gene . We report the case of a child with disease onset at the age of 3 months and a novel mutation in the glial fibrillary acidic protein gene . Peculiar aspects were initially atypical clinical and magnetic resonance imaging (MRI ) findings , which became typical during follow-up . The child was born after an uneventful pregnancy , presented initially only as a failure to thrive . The first MRI examination demonstrated obstructive hydrocephalus and cerebral white matter abnormalities (which were more prominent posteriorly ). During follow-up , her clinical picture became typical of AxD with macrocephaly and neurodevelopmental delay . Sequential MRI examinations showed frontal white matter involvement , together with exuberant forniceal lesions and areas of contrast enhancement .

Diseases
Validation

Diseases presenting "failure to thrive" symptom

22q11.2 deletion syndrome

alexander disease

child syndrome

congenital diaphragmatic hernia

cystinuria

familial hypocalciuric hypercalcemia

hirschsprung disease

homocystinuria without methylmalonic aciduria

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

neonatal adrenoleukodystrophy

omenn syndrome

papillon-lefÃ¨vre syndrome

pyruvate dehydrogenase deficiency

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated