title: Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia.
abstract: We report on a patient with methylmalonic acidemia (MMA). He experienced a metabolic acidosis attack at 3 weeks of age. He immediately received peritoneal dialysis and exchange transfusion, and recovered from the attack. His MMA phenotype was mut0. Dietary therapy (strict protein restriction) was found to be effective in preventing further attacks, and he had mild hypotonia and impaired psychomotor development. At 9 months of age, he developed brief tonic seizures, which showed polyspike bursts under EEG. His psychomotor development continued to deteriorate. However, intravenous administration of immunoglobulin (200 mg/kg/day for 5 consecutive days) had a dramatic effect; his seizures disappeared and his psychomotor development improved.
authors.affiliation: Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Aikoh
authors.forename: M
authors.initials: M
authors.lastname: Sasaki
authors.forename: K
authors.initials: K
authors.lastname: Sugai
authors.forename: H
authors.initials: H
authors.lastname: Yoshida
authors.forename: N
authors.initials: N
authors.lastname: Sakuragawa
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism / Q000473:pathology; D001921:Brain / Q000473:pathology; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000209:etiology / Q000628:therapy*; D006801:Humans; D007116:Immunization, Passive; D007231:Infant, Newborn; D008297:Male; D008764:Methylmalonic Acid / Q000378:metabolism*
chemical_list: D008764:Methylmalonic Acid