TY - JOUR
T1 - Alexander disease with mild dorsal brainstem atrophy and infantile spasms
AU - Torisu, Hiroyuki
AU - Yoshikawa, Yoko
AU - Yamaguchi-Takada, Yui
AU - Yano, Tamami
AU - Sanefuji, Masafumi
AU - Ishizaki, Yoshito
AU - Sawaishi, Yukio
AU - Hara, Toshiro
N1 - Funding Information:
This work was supported in part by a Health and Labour Sciences Research Grant from the Ministry of Health, Labour and Welfare of Japan and a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan.
PY - 2013/5
Y1 - 2013/5
N2 - We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8. months of age. The patient had a cluster of partial seizures at 4. months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8. months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.
AB - We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8. months of age. The patient had a cluster of partial seizures at 4. months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MRI) findings fulfilled all MRI-based criteria for the diagnosis of Alexander disease and revealed mild atrophy of the dorsal pons and medulla oblongata with abnormal intensities. DNA analysis disclosed a novel heterozygous missense mutation (c.1154 C>T, p.S385F) in the glial fibrillary acidic protein gene. At 8. months of age, tonic spasms occurred, and electroencephalography (EEG) revealed hypsarrhythmia. Lamotrigine effectively controlled the infantile spasms and improved the abnormal EEG findings. Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare. This comorbid condition may be associated with the distribution of the brain lesions and the age at onset of Alexander disease.
UR - http://www.scopus.com/inward/record.url?scp=84875891031&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875891031&partnerID=8YFLogxK
U2 - 10.1016/j.braindev.2012.06.009
DO - 10.1016/j.braindev.2012.06.009
M3 - Article
C2 - 22818990
AN - SCOPUS:84875891031
VL - 35
SP - 441
EP - 444
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 5
ER -