PMC6030028_01
Initial electroencephalogram with focal spikes arising from bilateral centrotemporal regions and associated ictal myoclonic seizures with generalized muscle contraction activities lasting for 20 s.
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His electroencephalogram (EEG) (Fig. 1) revealed focal spikes arising from bilateral centrotemporal regions, followed by ictal myoclonic seizures with generalized muscle contraction activities lasting 15-20 s observed on the EEG.
Magnetic resonance image of the patient's brain showing mild brain atrophy.
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Magnetic resonance images (Fig. 2) of the patient's brain showed mild brain atrophy.
Compound heterozygous mutations of c.544A > G and c.619C > T in NEU1 gene.
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T, which yielded a termination codon, thus producing a truncated protein (Fig. 3). The diagnosis of PMEs with sialidosis type I was thus made.