Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations

Mireille Castanet; Eric Mallet; Marie-Laure Kottler

doi:10.1016/j.jpeds.2013.04.056

Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations

J Pediatr. 2013 Oct;163(4):1208-10. doi: 10.1016/j.jpeds.2013.04.056. Epub 2013 Jun 14.

Authors

Mireille Castanet¹, Eric Mallet, Marie-Laure Kottler

Affiliation

¹ Department of Pediatrics, National Reference Center for Rare Calcium and Phosphorus Metabolism Diseases, Rouen University Hospital and CIC INSERM 204, Rouen University Faculty of Medicine, Rouen, France.

PMID: 23768816
DOI: 10.1016/j.jpeds.2013.04.056

Abstract

A novel mutation in CYP24A1 provides insight into idiopathic infantile hypercalcemia. In this report of 3 brothers, in twins supplemented with vitamin D (1900 IU/d), only the twin homozygous for CYP24A1 exhibited idiopathic infantile hypercalcemia. A subsequently affected younger brother given vitamin D 400 IU/d was not hypercalcemic.

Keywords: 1,25(OH)2D; 1,25-dihydroxyvitamin D; IIH; Idiopathic infantile hypercalcemia; PCR; PTH; Parathyroid hormone; Polymerase chain reaction.

Publication types

Case Reports

MeSH terms

Alleles
Dietary Supplements*
Diseases in Twins
Exons
Female
Homozygote
Humans
Hypercalcemia / genetics*
Infant
Infant, Newborn, Diseases / genetics*
Male
Metabolism, Inborn Errors / genetics*
Mutation*
Parathyroid Hormone / metabolism
Pedigree
Polymerase Chain Reaction / methods
Sequence Analysis, DNA
Siblings
Steroid Hydroxylases / genetics*
Vitamin D / therapeutic use*
Vitamin D3 24-Hydroxylase

Substances

Parathyroid Hormone
Vitamin D
Steroid Hydroxylases
CYP24A1 protein, human
Vitamin D3 24-Hydroxylase

Supplementary concepts

Hypercalcemia, Idiopathic, of Infancy