Pediatric Radiology

, 38:1054

Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature

  • Alireza Radmanesh
  • Talieh Zaman
  • Hossein Ghanaati
  • Sanaz Molaei
  • Richard L. Robertson
  • Amir A. Zamani
Original Article

DOI: 10.1007/s00247-008-0940-8

Cite this article as:
Radmanesh, A., Zaman, T., Ghanaati, H. et al. Pediatr Radiol (2008) 38: 1054. doi:10.1007/s00247-008-0940-8

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.

Materials and 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.

Conclusion

Radiological findings of MMA are nonspecific. A constellation of common clinical and radiological findings should raise the suspicion of MMA.

Keywords

Methylmalonic acidInborn error of metabolismCTMRIChildren

Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Alireza Radmanesh
    • 1
  • Talieh Zaman
    • 2
  • Hossein Ghanaati
    • 3
  • Sanaz Molaei
    • 4
  • Richard L. Robertson
    • 5
  • Amir A. Zamani
    • 6
  1. 1.Department of RadiologyBrigham and Women’s Hospital, Harvard Medical SchoolBostonUSA
  2. 2.Department of Pediatric Metabolic DisordersTehran University of Medical SciencesTehranIran
  3. 3.Department of RadiologyTehran University of Medical SciencesTehranIran
  4. 4.Department of RadiologyShahid Beheshti University of Medical SciencesTehranIran
  5. 5.Department of RadiologyChildren’s Hospital BostonBostonUSA
  6. 6.Department of Radiology, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA