title: Management of West syndrome in a patient with methylmalonic aciduria.
abstract: Infantile spasms (or West syndrome) occur occasionally in patients with branched-chain organic acidurias. We describe a patient diagnosed with methylmalonic aciduria at 4.5 months of age during an episode of metabolic decompensation. The child was developmentally delayed and hypotonic; his electroencephalography (EEG) showed hypsarrythmia and brain magnetic resonance imaging (MRI) demonstrated moderate abnormalities in the globi pallidi. Following the failure of vigabatrin and lamotrigine to control the spasms, hydrocortisone was introduced. Methylmalonic acid excretion increased at the onset of steroid therapy but was rapidly corrected with transient protein restriction and initiation of metronidazole therapy. Full control of spasms and hypsarrythmia permitted the discontinuation of hydrocortisone therapy a year following its initiation. Tone and development improved although the latter remained delayed. This case illustrates the importance of screening for inborn errors of metabolism in seizure disorders, and that, although challenging, the management of methylmalonic aciduria with concurrent steroid therapy is possible and beneficial.
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Canada.
authors.forename: Philippe M
authors.initials: PM
authors.lastname: Campeau
authors.forename: Vassili
authors.initials: V
authors.lastname: Valayannopoulos
authors.forename: Guy
authors.initials: G
authors.lastname: Touati
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.forename: Perrine
authors.initials: P
authors.lastname: Plouin
authors.forename: Daniel
authors.initials: D
authors.lastname: Rabier
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Benoist
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
authors.forename: Pascale
authors.initials: P
authors.lastname: de Lonlay
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
mesh_terms: D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D038524:Diffusion Magnetic Resonance Imaging; D004569:Electroencephalography; D005500:Follow-Up Studies; D005917:Globus Pallidus / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000188:drug therapy* / Q000235:genetics; D008764:Methylmalonic Acid / Q000652:urine; D008765:Methylmalonyl-CoA Mutase / Q000235:genetics / Q000378:metabolism; D013036:Spasms, Infantile / Q000150:complications* / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D008764:Methylmalonic Acid; D008765:Methylmalonyl-CoA Mutase