title: Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.
abstract: BACKGROUND
  Methylmalonic acidemia (MMA) is an autosomal-recessive inborn error of metabolism.
  
  
  OBJECTIVE
  To recognize the CT and MR brain sectional imaging findings in children with MMA.
  
  
  METHODS
  Brain imaging studies (47 MR and 5 CT studies) from 52 children were reviewed and reported by a neuroradiologist. The clinical data were collected for each patient.
  
  
  RESULTS
  The most common findings were ventricular dilation (17 studies), cortical atrophy (15), periventricular white matter abnormality (12), thinning of the corpus callosum (8), subcortical white matter abnormality (6), cerebellar atrophy (4), basal ganglionic calcification (3), and myelination delay (3). The brain images in 14 patients were normal.
  
  
  CONCLUSIONS
  Radiological findings of MMA are nonspecific. A constellation of common clinical and radiological findings should raise the suspicion of MMA.
authors.affiliation: Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis St., ASB-I, L1-050, Boston, MA 02115, USA. Radmanesh@bwh.harvard.edu
authors.forename: Alireza
authors.initials: A
authors.lastname: Radmanesh
authors.forename: Talieh
authors.initials: T
authors.lastname: Zaman
authors.forename: Hossein
authors.initials: H
authors.lastname: Ghanaati
authors.forename: Sanaz
authors.initials: S
authors.lastname: Molaei
authors.forename: Richard L
authors.initials: RL
authors.lastname: Robertson
authors.forename: Amir A
authors.initials: AA
authors.lastname: Zamani
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis*; D001927:Brain Diseases / Q000175:diagnosis* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008764:Methylmalonic Acid / Q000378:metabolism*; D014057:Tomography, X-Ray Computed
chemical_list: D008764:Methylmalonic Acid