Children With Methylmalonic Acidemia And Propionic Acidemia: Developmental Status, Electroclinical Features, Neuroimaging Features

To summarize the neurologic status, electroclinical features, neuroimaging features of children with methylmalonic acidemia (MMA) and propionic acidemia (PPA).

22 patients with MMA (n=9) and PPA( n=12) followed up by Istanbul University-Cerrahpasa Medicine Faculty were included in our study. We assessed motor status, electroencephalographic features and neuroimaging findings of patients.

The mean age was 82 months old (ranged 14-190 m.o.). Metabolic decompensation frequency was less than once a year in 5 patients, 1-5 per year in 7 patients, more than 5 per year in 2 patients, and more than 10 per year in 8 patients. Gross motor function was level 1 in six patients, level 5 in four patients. 18 patients experienced seizure at least once. The seizure types included focal motor (n=8) / non-motor (n=3), focal to bilateral tonic clonic (n=2), generalized motor (n=11) / non-motor (n=1) and epileptic spasm(n=6). Eight patients had more than one seizure types. On EEG; 11 patients has epileptic activity (in 5 patients focal, in 1 generalized, in 2 multifocal, in 1 hipsiaritmi, in 2 both focal and generalized). Cranial MRI scans showed that all patients has abnormality [bilateral cerebral atrophy (n = 17), increased T2 signal intensities in white matter (n = 4), hypoplasia of corpus callosum (n = 9), bilateral increased T2 signal intensities or necrosis in basal ganglia (n = 17), and cerebellar atrophy (n = 8)].

In MMA and PPA patients, epilepsy is very common problem, neuroimaging abnormality is common and their Gross motor function level are variable.
Keywords: organic acidemia, epilepsy, metabolic epilepsy