title: Pontocerebellar hypoplasia type 1 with a milder phenotype in a two-year-old girl.
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.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Puneet
authors.initials: P
authors.lastname: Jain
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.affiliation: Department of Radio-Diagnosis, JPN Apex Trauma Center, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Atin
authors.initials: A
authors.lastname: Kumar
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
authors.forename: Satinder
authors.initials: S
authors.lastname: Aneja
keywords: Anterior horn cell; cerebellar atrophy; floppy infant; spinal muscular atrophy