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 CASE REPORT
Year : 2014  |  Volume : 9  |  Issue : 1  |  Page : 70-72

Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl


1 Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India
2 Department of Radio-Diagnosis, JPN Apex Trauma Center, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Suvasini Sharma
Department of Pediatrics, Division of Pediatric Neurology, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi - 110 001
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1817-1745.131494

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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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