Brain malformation and infantile spasms in a SCAD deficiency patient.

Journal Article (Journal Article)

This report presents a case of short-chain acyl-coenzyme A (CoA) dehydrogenase deficiency with a previously unreported presentation with brain malformations and infantile spasms. This female infant developed repeated tonic clonic seizures at the age of 3(1/2) months. She subsequently developed West syndrome at the age of 4 months. Her electroencephalogram disclosed hypsarrhythmia, and video-electroencephalographic monitoring confirmed the presence of infantile spasms. Magnetic resonance imaging revealed a small midline frontal meningocele, abnormal cortical gyration, and partial agenesis of the corpus callosum consistent with neuronal migrational disorder. Metabolic evaluation indicated ethylmalonic acidemia. Muscle biopsy with enzymatic assay of short-chain acyl-coenzyme A revealed low enzymatic activity confirming the diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency. To our knowledge, this is the first report of the coexistence of short-chain acyl-coenzyme A dehydrogenase deficiency, infantile spasms, and brain malformation. We conclude that short-chain acyl-coenzyme A dehydrogenase deficiency should be considered in the differential diagnosis of gyral abnormality, corpus callosal hypoplasia, and infantile spasms.

Full Text

Duke Authors

Cited Authors

  • Mikati, MA; Chaaban, HR; Karam, PE; Krishnamoorthy, KS

Published Date

  • January 1, 2007

Published In

Volume / Issue

  • 36 / 1

Start / End Page

  • 48 - 50

PubMed ID

  • 17162197

International Standard Serial Number (ISSN)

  • 0887-8994

Digital Object Identifier (DOI)

  • 10.1016/j.pediatrneurol.2006.08.008


  • eng

Conference Location

  • United States