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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.

Tugce Damla Dilek
istanbul university cerrahpasa medicine faculty
Turkey

Hüseyin Kılıç
istanbul university cerrahpasa medicine faculty
Turkey

Sema Saltik
istanbul university cerrahpasa medicine faculty
Turkey

Ertuğrul Kıykım
istanbul university cerrahpasa medicine faculty
Turkey

Duhan Hopurcuoğlu
child metabolism department of istanbul university cerrahpasa medicine faculty
Turkey

Fitnat Uluğ
istanbul university cerrahpasa medicine faculty
Turkey

 


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