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
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated