title: Three cases of cerebellar hypoplasia and vitamin a deficiency: a case report and a possible pathophysiology.
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.
authors.affiliation: University of Alberta, Edmonton, Alberta, Canada.
authors.forename: Ori
authors.initials: O
authors.lastname: Scott
authors.forename: Helly R
authors.initials: HR
authors.lastname: Goez
mesh_terms: D002526:Cerebellar Diseases / Q000150:complications*; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D014802:Vitamin A Deficiency / Q000150:complications* / Q000175:diagnosis