The clinical and EEG features and mutation analysisin a Chinese patient with severe hypoplasia of the cerebellum and pons
- Author:
Meng-Yang Wang
;
Xing-Zhou Liu
;
Jing Wang
;
Guo-Ming Luan
- Publication Type:Journal Article
- From:Neurology Asia
2014;19(3):319-322
- CountryMalaysia
- Language:English
-
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.
- Full text:P020150630535027267564.pdf
