1. Patient’s clinical findings: (A) Lateral view of the patient showing urticarial rashes on her face.
Patient’s clinical findings: (A) Lateral view of the patient showing urticarial rashes on her face. (B) Brain MRI at the age of 3 years showed bilateral symmetric areas of polymicrogyric cortex in the posterior part of the Sylvian fissures, extending to the parietal lobes. In these areas, the cortex appears thickened and characterised by small gyri (arrows in 2, 3, 4). Corpus callosum is thinned. An arachnoid cyst is present in the right part of the posterior fossa (4) and posteriorly to the lamina quadrigemina (1). (C) EEG-polygraphic recording at the age of 3 years. The red circles indicate background activity during wakefulness, myoclonic jerks on EMG derivation and K-complex and spindles and slow waves during sleep stages 2 and 3–4.
Nehir Kurtas et al. J Med Genet 2018;55:
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