Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.

[alexander disease]

Alexander disease is a major entity of leukodystrophy ; magnetic resonance imaging (MRI ) studies of the brain typically show extensive changes in the cerebral white matter with frontal predominance . Heterozygous missense mutations of GFAP are thought to be sufficient for the molecular diagnosis , which has widened the Alexander disease entity beyond the classical one . We report the patient , a 16 -year -old Japanese boy , with infantile -onset Alexander disease , showing striking MRI findings ; extreme white matter loss of cerebrum through cerebellum , severe atrophy of basal ganglia , cerebellum , brain stem , and cervical spinal cord . Molecular analysis showed a heterozygous mutation R 239 L (c .730 G >T ) in GFAP . A relative long disease course , over 15 years , with the help of mechanical ventilation revealed the striking MRI progression .

Diseases
Validation

Diseases presenting "leukodystrophy" symptom

achondroplasia

adrenomyeloneuropathy

alexander disease

cadasil

canavan disease

carcinoma of the gallbladder

classical phenylketonuria

coats disease

fabry disease

gm1 gangliosidosis

krabbe disease

neonatal adrenoleukodystrophy

phenylketonuria

pyruvate dehydrogenase deficiency

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated