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Licensed Unlicensed Requires Authentication Published by De Gruyter April 14, 2011

Pediatric 25-hydroxyvitamin D concentrationsin neurofibromatosis type 1

David A. Stevenson, David H. Viskochil, John C. Carey, Xiaoming Sheng, Mary Murray, Laurie Moyer-Mileur, Judd Shelton, William L. Roberts, Ashley M. Bunker, Heather Hanson, Stephanie Bauer and Jacques L. D’Astous


Objective: Low 25-hydroxyvitamin D (25OHD) concentrations have been associated with tumors and osteopenia or fractures in adults with neurofibromatosis type 1 (NF1). We report 25OHD concentrations in 109 children with NF1 and 218 controls matched for age, sex, geographic location, and time of year.

Methods: Children with NF1 were recruited (n=109; 2–17 years), and clinical data and dual-energy X-ray absorptiometry measurements were obtained. 25OHD concentrations were measured in subjects and controls.

Results: More NF1 individuals (50%) were in the 25OHD insufficient or deficient range (<30 ng/mL) (1 ng/mL=2.496 nmol/L) compared to controls (36%) (p=0.0129). 25OHD concentrations were higher in individuals with neurofibromas after controlling for age (p=0.0393), and were negatively associated with whole-body subtotal bone mineral density (BMD) z-scores (p=0.0385).

Conclusions: More children with NF1 had 25OHD concentrations <30 ng/mL, potentially because of increased pigmentation and/or decreased sunlight exposure. In contrast to adults, decreased 25OHD concentrations were not associated with neurofibromas, and there was no positive association between 25OHD and BMD.

Corresponding author: Dr. David A. Stevenson, University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, UT 84132, USA Phone: +1-801-5818943, Fax: +1-801-5857252

Published Online: 2011-04-14
Published in Print: 2011-04-01

©2011 by Walter de Gruyter Berlin New York