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.
Other significant findings include mental retardation in 16%, developmental defects notably growth retardation and delayed sexual development in 22%. Involvement of renal arteries was noted in one patient and an ovarian teratoma and sarcoma in 2 others. Recognition of the diagnosis of NFT early would allow genetic counseling, attention to complications such as skeletal and growth difficulties, and surveillance for tumors.
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King, B., King, M. & Kontras, S. NEUROFIBROMATOSIS IN CHILDREN. Pediatr Res 8, 441 (1974). https://doi.org/10.1203/00006450-197404000-00604
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DOI: https://doi.org/10.1203/00006450-197404000-00604