Open AccessPontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl
Author(s) -
Puneet Jain,
Suvasini Sharma,
Atin Kumar,
Satinder Aneja
Publication year - 2014
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/1817-1745.131494
Subject(s) - medicine , hypoplasia , phenotype , girl , cerebellar hypoplasia (non human) , clinical phenotype , pathology , cerebellum , anatomy , genetics , biology , gene
The rare association of pontocerebellar hypoplasia with anterior horn cell involvement has been classified as pontocerebellar hypoplasia type 1. Its classic phenotype is usually severe. However, the pontocerebellar hypoplasia type 1 may have wider variability in clinical and radiological features. There may be a genetic heterogeneity as well. We described here a young girl with relatively milder clinical phenotype with cerebellar atrophy with absent pontine involvement, further adding to the clinical phenotype.