Three Cases of Cerebellar Hypoplasia and Vitamin A Deficiency

Author:

Scott Ori1,Goez Helly R.2

Affiliation:

1. University of Alberta, Edmonton, Alberta, Canada

2. Division of Pediatric Neurology, of Pediatrics, Stollery Children’s Hospital, University of Alberta, Edmonton, Alberta, Canada

Abstract

Studies in animal models have established that intra-uterine vitamin A deficiency can hinder hindbrain formation; however, reports of such a phenomenon in humans had not been published until recently, when our group presented the case of an infant diagnosed with pontocerebellar hypoplasia and vitamin A deficiency. We currently report the cases of 3 infants with cerebellar hypoplasia and hypovitaminosis A, whose vitamin A consumption was determined to be adequate, and whose mothers had no such deficiency. We suggest a possible pathophysiology whereby a mutation in the gene coding for cytoplasmic retinol-binding protein II, which is expressed both in the placenta and the yolk sac (during fetal development) and in the absorptive intestinal cells, can cause vitamin A deficiency, forming hindbrain anomalies. Validation of our hypothesis will require further research, including fetal vitamin A measurements and hindbrain examination in cytoplasmic retinol-binding protein II knockout animals.

Publisher

SAGE Publications

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

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