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Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl
Puneet Jain1, Suvasini Sharma1, Atin Kumar2
1Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
Abstract:
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.
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