NEUROFIBROMATOSIS IN CHILDHOOD

Abstract

The literature suggests that the presence of 2 of the following is necessary to diagnose neurofibromatosis (NFT): 5 or more cafe au lait spots > 0.5 cm. in diameter, positive family history or biopsy-proven neurofibromas. Fifty-one children seen between 1952 and 1972 at Columbus Children's Hospital meet these criteria. Eighty-six percent showed neurofibromas, 53% had a positive family history and 80% showed cafe au lait spots. Although 22% showed cafe au lait spots at birth only 50% of the cases had been diagnosed by age 5. Fifty-five percent had bone abnormalities primarily kyphoscoliosis. Seven of these patients required surgical correction. Twenty-five percent had facial neurofibromas and showed gross facial asymmetry.