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 "seizures" symptom

alexander disease

alpha-thalassemia

cadasil

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

erdheim-chester disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

legionellosis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

phenylketonuria

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated