TY  - JOUR
TI  - TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
AB  - The pontocerebellar hypoplasias (PCHs) are a heterogeneous group ofautosomal recessive disorders characterized by hypoplasia of the ventral ponsand cerebellum, with variable cerebral involvement and severe psychomotorretardation. Eight different subtypes (PCH1-8) have been reported up tonow. PCH2 is the most common type, generally caused by homozygousmutations in the TSEN54 gene and characterized by cerebellar hypoplasia thataffects the hemispheres more severely than the vermis, progressive cerebralatrophy, microcephaly, dyskinesia, seizures and death in early childhood. Wepresent two cousins with PCH2. Both patients presented with exaggeratedstartle response in the newborn period. Here we discuss the clinical andneuroradiological findings of PCH2, and its differentiation from familial startledisease or hereditary hyperekplexia
AU  - ROSTİ, Rasim Özgür
AU  - Maraş Genç, Hülya
AU  - GLEESON, Joseph G.
AU  - UYUR-YALÇINR, Emek
AU  - KARA, Bülent
PY  - 2015
JO  - Turkish Journal of Pediatrics
VL  - 57
IS  - 3
SN  - 0041-4301
SP  - 286
EP  - 289
DB  - TRDizin
UR  - http://search/yayin/detay/239702
ER  -