The clinical and EEG features and mutation analysis in a Chinese patient with severe hypoplasia of the cerebellum and pons

We report here a Chinese female infant with severe hypoplasia of the cerebellum and pons, and heterozygous mutation (c.18G >T, p.E6D) in the TSEN54 gene. This mutation was not present in her parents and the 100 Chinese controls, which proved to be a de novo missense mutation. MR imaging of the patient revealed severe hypoplasia of the bilateral cerebellar hemispheres and vermis with moderate flattening of the pons. A video EEG during hospitalization demostrated abnormal background activities and generalized burst and attenuation patterns during interictal stage. The spasms and tonic spasms occurred frequently in clusters with generalized voltage attenuation. Neurology Asia 2014; 19(3) : 319 – 322