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Neurofibromatosis-1, Pediatric

Robert Listernick, MD Reviewed 10/2018
 


BASICS

DESCRIPTION

  • Neurofibromatosis type 1 (NF-1) is an autosomal dominant tumor suppressor gene disorder.

  • NF-1 is diagnosed based on the presence of any two of the following National Institutes of Hea...

DIAGNOSIS

HISTORY

  • Growth

    • Accelerated linear growth may be first sign of precocious puberty and presence of optic pathway tumor (OPT).

  • Vision

    • OPTs generally occur before 7 years of age; young children rare...

TREATMENT

GENERAL MEASURES

  • Treatment of NF-1 should be performed in a multidisciplinary setting.

  • All 1st-degree relatives should be examined for the cutaneous manifestations of NF-1 and should undergo s...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • Yearly visits allow the physician to identify early NF-1 complications while providing counseling and dissemination of information regarding NF-1.

  • All children wit...

ADDITIONAL READING

  • Avery RA, Fisher MJ, Liu GT. Optic pathway gliomas. J Neuroophthalmol.  2011;31(3):269–278. [View Abstract on OvidInsights]

  • Brossier NM, Gutmann DH. Improving outcomes for neuro...

CODES

ICD9

  • 237.71 Neurofibromatosis, type 1 [von recklinghausen’s disease]

  • 709.09 Other dyschromia

ICD10

  • Q85.01 Neurofibromatosis, type 1

  • L81.3 Cafe au lait spots

SNOMED

  • 92824003 neurofibromatosis, type 1 (d...

FAQ

  • Q: My child has NF-1. What specialists must he see?

  • A: Your child should have annual follow-up with a physician familiar with the issues of NF, ideally in an NF-1 multidisciplinary clinic.

  • Q: Does m...

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