Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature.
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.
Radmanesh
Alireza
A
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
Zaman
Talieh
T
Ghanaati
Hossein
H
Molaei
Sanaz
S
Robertson
Richard L
RL
Zamani
Amir A
AA
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
D008764:Methylmalonic Acid