title: 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.
authors: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. htorys@pediatr.med.kyushu-u.ac.jp
authors: Hiroyuki
authors: H
authors: Torisu
authors: Yoko
authors: Y
authors: Yoshikawa
authors: Yui
authors: Y
authors: Yamaguchi-Takada
authors: Tamami
authors: T
authors: Yano
authors: Masafumi
authors: M
authors: Sanefuji
authors: Yoshito
authors: Y
authors: Ishizaki
authors: Yukio
authors: Y
authors: Sawaishi
authors: Toshiro
authors: T
authors: Hara
mesh_terms: D038261:Alexander Disease / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D000927:Anticonvulsants / Q000627:therapeutic use; D001284:Atrophy / Q000150:complications / Q000235:genetics; D001933:Brain Stem / Q000473:pathology*; D058256:Brain Waves / Q000502:physiology; D003337:Corpus Callosum / Q000473:pathology; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D013036:Spasms, Infantile / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D014635:Valproic Acid / Q000627:therapeutic use
chemical_list: D000927:Anticonvulsants; D005904:Glial Fibrillary Acidic Protein; D014635:Valproic Acid