title: Early mitochondrial dysfunction in an infant with Alexander disease.
abstract: Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a severe course with a rapid neurologic deterioration. Although magnetic resonance imaging is useful for diagnosis, currently diagnosis is confirmed by the finding of missense mutation in the glial fibrillary acidic protein (GFAP) gene. This case reports a female who presented at the age of 5 months with refractory epilepsy and hypotonia. Laboratory examinations, muscle biopsy examination, and energetic metabolic study in muscle indicated increased concentrations of lactate, mitochondria with structural abnormalities, and decreased cytochrome-c oxidase activity respectively. Later, both clinical course and magnetic resonance findings were compatible with Alexander disease, which was confirmed by the finding of a novel glial fibrillary acidic protein gene mutation.
authors.affiliation: Unit of Child Neurology, Department of Pediatrics, Hospital Materno-Infantil, Badajoz, Spain. ccaceresmarzal@yahoo.es
authors.forename: Cristina
authors.initials: C
authors.lastname: Cáceres-Marzal
authors.forename: Julián
authors.initials: J
authors.lastname: Vaquerizo
authors.forename: Enrique
authors.initials: E
authors.lastname: Galán
authors.forename: Santiago
authors.initials: S
authors.lastname: Fernández
mesh_terms: D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics; D001706:Biopsy; D001921:Brain / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008931:Mitochondria, Muscle / Q000473:pathology; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000235:genetics; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense
chemical_list: D005904:Glial Fibrillary Acidic Protein; D019344:Lactic Acid