Seizures in Schuurs –Hoeijmakers syndrome patients may resolve spontaneously: A case report from China

Schuurs –Hoeijmakers syndrome (SHMS) is a rare autosomal dominant genetic condition characterised by abnormal facial features, varying degrees of neurodevelopmental disorder, intellectual disability, and seizures. The c.607C>T pathogenic variant in the phosphofurin acidic cluster sorting protein 1 (PACS1) gene is the most common genetic variant associated with SHMS. Here we present the case of a patient with SHMS in China who suffered from seizure clusters (SCs) starting 10 days after birth. The child gradually developed typical facial features of SHMS and showed abundant multiple spikes, spike-wave discharges, and slow waves in bilateral parietal, occipital, middle temporal, and posterior temporal lobes by video electroencephalography (VEEG).
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research