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. 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.

journal_name

Pediatr Radiol

journal_title

Pediatric radiology

authors

Radmanesh A,Zaman T,Ghanaati H,Molaei S,Robertson RL,Zamani AA

doi

10.1007/s00247-008-0940-8

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

1054-61

issue

10

eissn

0301-0449

issn

1432-1998

journal_volume

38

pub_type

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