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.
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.
Authors: A Rossi; R Cerone; R Biancheri; R Gatti; M C Schiaffino; C Fonda; E Zammarchi; P Tortori-Donati Journal: AJNR Am J Neuroradiol Date: 2001-03 Impact factor: 3.825
Authors: G M Enns; A J Barkovich; D S Rosenblatt; D R Fredrick; K Weisiger; C Ohnstad; S Packman Journal: J Inherit Metab Dis Date: 1999-06 Impact factor: 4.982
Authors: Guy M L Perry; Keith W Nehrke; David A Bushinsky; Robert Reid; Krista L Lewandowski; Paul Hueber; Steven J Scheinman Journal: Genetics Date: 2012-05-02 Impact factor: 4.562
Authors: Andrea Poretti; Susan I Blaser; Maarten H Lequin; Ali Fatemi; Avner Meoded; Frances J Northington; Eugen Boltshauser; Thierry A G M Huisman Journal: J Magn Reson Imaging Date: 2012-05-07 Impact factor: 4.813