title: Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency.
abstract: Pontocerebellar hypoplasia consists of a rare heterogeneous group of congenital neurodevelopmental disorders. It is characterized by hypoplasia and atrophy of the cerebellar cortex, dentate nuclei, pontine nuclei, and inferior olives. We present an 18-month-old infant with pontocerebellar hypoplasia type 3 and severe vitamin A deficiency. This case emphasizes the significance of vitamin A in the proper formation of the hindbrain. The authors conclude that vitamin A screening should be considered in maternal and newborn metabolic screening.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Francois D
authors.initials: FD
authors.lastname: Jacob
authors.forename: Simona
authors.initials: S
authors.lastname: Hasal
authors.forename: Helly R
authors.initials: HR
authors.lastname: Goez
mesh_terms: D006801:Humans; D007223:Infant; D008297:Male; D009849:Olivopontocerebellar Atrophies / Q000150:complications* / Q000175:diagnosis*; D012720:Severity of Illness Index; D014802:Vitamin A Deficiency / Q000150:complications* / Q000175:diagnosis*