Original Article

Pediatric Radiology

, 38:1054

First online:

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

  • Alireza RadmaneshAffiliated withDepartment of Radiology, Brigham and Women’s Hospital, Harvard Medical School Email author 
  • , Talieh ZamanAffiliated withDepartment of Pediatric Metabolic Disorders, Tehran University of Medical Sciences
  • , Hossein GhanaatiAffiliated withDepartment of Radiology, Tehran University of Medical Sciences
  • , Sanaz MolaeiAffiliated withDepartment of Radiology, Shahid Beheshti University of Medical Sciences
  • , Richard L. RobertsonAffiliated withDepartment of Radiology, Children’s Hospital Boston
  • , Amir A. ZamaniAffiliated withDepartment of Radiology, Brigham and Women’s Hospital, Harvard Medical School

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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 acid Inborn error of metabolism CT MRI Children