Alexander disease with mild dorsal brainstem atrophy and infantile spasms |
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Authors: | Hiroyuki Torisu Yoko Yoshikawa Yui Yamaguchi-Takada Tamami Yano Masafumi Sanefuji Yoshito Ishizaki Yukio Sawaishi Toshiro Hara |
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Affiliation: | 1. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;2. Department of Pediatrics, Akita University School of Medicine, Akita, Japan;3. Department of Pediatrics, Akita Prefectural Center on Development and Disability, Akita, Japan |
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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. |
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Keywords: | Alexander disease Glial fibrillary acidic protein gene Infantile spasms Brainstem Hypsarrhythmia Novel mutation |
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