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

ABSTRACT

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.