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American Academy of Pediatrics
Article

Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children

Kimberly DeBella, Jacek Szudek and Jan Marshall Friedman
Pediatrics March 2000, 105 (3) 608-614; DOI: https://doi.org/10.1542/peds.105.3.608
Kimberly DeBella
1From the Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
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Jacek Szudek
1From the Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
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Jan Marshall Friedman
1From the Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
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Abstract

Objective. The National Institutes of Health (NIH) Diagnostic Criteria for neurofibromatosis 1 (NF1) are very useful clinically, but some individuals who are later shown to have NF1 cannot be diagnosed in early childhood using these criteria. The aim of this study is to determine the value of the NIH Diagnostic Criteria for NF1 in early childhood, to determine the age at which diagnosis can confidently be made, and to clarify the age at onset of the cardinal clinical features used in the NIH Diagnostic Criteria.

Methods. We studied 1893 NF1 patients under 21 years old from the National Neurofibromatosis Foundation International Database to determine the age at which the features included in the NIH Diagnostic Criteria appear.

Results. Approximately 46% of sporadic NF1 cases fail to meet the NIH Diagnostic Criteria by 1 year of age. Nearly all (97%; 95% confidence interval: 94–98) NF1 patients meet the criteria for diagnosis by 8 years old, and all do so by 20 years old. The usual order of appearance of the clinical features listed as NIH criteria is café-au-lait macules, axillary freckling, Lisch nodules, and neurofibromas. Symptomatic optic glioma is usually diagnosed by 3 years old, and characteristic osseous lesions are usually apparent within the first year of life.

Conclusion. The diagnosis of NF1 cannot always be made in young children using the NIH Diagnostic Criteria. Modification of these criteria may be necessary for children under 8 years old.

  • neurofibromatosis 1
  • National Institutes of Health Diagnostic Criteria
  • natural history
  • Received February 18, 1999.
  • Accepted June 14, 1999.
  • Copyright © 2000 American Academy of Pediatrics

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Pediatrics
Vol. 105, Issue 3
1 Mar 2000
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Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children
Kimberly DeBella, Jacek Szudek, Jan Marshall Friedman
Pediatrics Mar 2000, 105 (3) 608-614; DOI: 10.1542/peds.105.3.608

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Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children
Kimberly DeBella, Jacek Szudek, Jan Marshall Friedman
Pediatrics Mar 2000, 105 (3) 608-614; DOI: 10.1542/peds.105.3.608
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  • Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
  • A child with axillary freckling and cafe au lait spots
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