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Alexander disease with mild dorsal brainstem atrophy and infantile spasms.

Abstract：

: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.

journal_name

Brain Dev

journal_title

Brain & development

authors

Torisu H,Yoshikawa Y,Yamaguchi-Takada Y,Yano T,Sanefuji M,Ishizaki Y,Sawaishi Y,Hara T

doi

10.1016/j.braindev.2012.06.009

subject

Has Abstract

pub_date

2013-05-01 00:00:00

pages

441-4

issue

5

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(12)00159-3

journal_volume

35

pub_type

杂志文章

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