TRH therapy in a patient with juvenile Alexander disease.
Alexander disease is a rare disorder of the central nervous system caused by a de novo mutation in the glial fibrillary acidic protein (GFAP) gene. Unlike the much more common infantile form, the juvenile form is slowly progressive with bulbar, pyramidal and cerebellar signs. Herein, we report a 9-year old Japanese girl suffering from frequent vomiting, slurred speech and truncal ataxia. Juvenile Alexander disease was diagnosed by genetic analysis, which detected a novel GFAP mutation, D360V. We also describe our clinical success in treating this patient with thyrotropin releasing hormone (TRH).
Ishigaki
Keiko
K
Tokyo Women's Medical University, School of Medicine, Department of Pediatrics, 8-1 Kawadacho, 162-8666 Shinjuku-ku, Tokyo, Japan. keig3@almond.ocn.ne.jp
Ito
Yasushi
Y
Sawaishi
Yukio
Y
Kodaira
Kayano
K
Funatsuka
Makoto
M
Hattori
Nozomi
N
Nakano
Kazutoshi
K
Saito
Kayoko
K
Osawa
Makiko
M
D038261:Alexander Disease / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D001224:Aspartic Acid / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation; D013973:Thyrotropin-Releasing Hormone / Q000627:therapeutic use*; D014633:Valine / Q000235:genetics
D005904:Glial Fibrillary Acidic Protein; D001224:Aspartic Acid; D013973:Thyrotropin-Releasing Hormone; D014633:Valine