Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.
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 R239L (c.730G>T) in GFAP. A relative long disease course, over 15years, with the help of mechanical ventilation revealed the striking MRI progression.
Department of Neurology, Gunma Children's Medical Center, Gunma, Japan. shiihara-ind@umin.net
Takashi
T
Shiihara
Toru
T
Yoneda
Ikuko
I
Mizuta
Tomokatsu
T
Yoshida
Masanori
M
Nakagawa
Nobuzo
N
Shimizu
D000293:Adolescent; D038261:Alexander Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D018450:Disease Progression; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D013116:Spinal Cord / Q000473:pathology; D015996:Survival Rate