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 .

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Diseases presenting "mutations of gfap" symptom

alexander disease

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