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CONDITION/DISORDER SYNONYMS

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  • Neurofibromatosis, Type 1 (NF1)

  • Von Recklinghausen disease

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ICD-9-CM CODES

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  • 237.70 Neurofibromatosis unspecified

  • 237.71 Neurofibromatosis Type 1 von Recklinghausen disease

  • 237.72 Neurofibromatosis Type 2 acoustic neurofibromatosis

  • 237.73 Schwannomatosis

  • 237.7 Neurofibromatosis

  • 237.79 Other neurofibromatosis

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ICD-10-CM CODES

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  • Q85.00 Neurofibromatosis, unspecified

  • Q85.01 Neurofibromatosis, Type 1

  • Q85.02 Neurofibromatosis, Type 2

  • Q85.03 Schwannomatosis

  • Q85.09 Other neurofibromatosis

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PREFERRED PRACTICE PATTERN

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  • 5E: Impaired Motor Function and Sensory Integrity Associated with Progressive Disorders of the Central Nervous System

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PATIENT PRESENTATION

An 18-month-old is referred to physical therapy for frequent falls. The child was diagnosed with neurofibromatosis (NF) at 2 years of age with multiple café-au-lait spots including in the axillary region. The child has an optic nerve tumor on each eye that causes intermittent pain and the latest MRI shows brain tumors that are believed to be the source of the current balance difficulties.

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KEY FEATURES

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Description
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  • Group of neoplastic disorders resulting from an autosomal dominant genetic disorder or chromosomal mutation

  • Type 1 is the most common with hyperpigmentation spots (café-au-lait spots) present at birth, tumors of skin, and progressive decline of nerves, muscle, and bones due to defect of chromosome 17

  • Type 2, acoustic neuromas, due to defect of chromosome 22

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Essentials of Diagnosis
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  • At least two of the following needed for diagnosis

    • At least seven café-au-lait spots less than 5 mm prior to puberty and more than 15 mm after puberty

    • More than two neurofibromas

    • Optic glioma

    • More than two Lisch nodules (tumors on the iris)

    • Freckling in axilla or inguinal areas

    • Bony lesions

    • Immediate family member with NF1

  • Acoustic neuromas (Type 2) involve tumors on inner ear nerves, brain, skull, spinal cord, including schwannomas, gliomas, and meningiomas

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FIGURE 245-1

Autosomal dominant inheritance. Variable expressivity in Neurofibromatosis type 1. (From Hay WM et al: Current Diagnosis & Treatment: Pediatrics, 21st edition. www.accessmedicine.com. Copyright © The McGraw-Hill Companies, Inc. All rights reserved.)

Graphic Jump Location
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General Considerations
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  • Type 1 involves dermal and epidermal benign tumors that affect myelin (neurofibromas) of peripheral nerves that can erode bone or cause compression of the nerve including optic nerve gliomas

  • Acoustic neuromas result in hearing and balance deficits, as well as difficulty swallowing, and problems with eye movements and speech

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Demographics
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  • NF1 accounts for 95% of all cases1

  • 1 in 3000 births2

  • 50% risk in siblings3

  • 40% of those affected develop complications3

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CLINICAL FINDINGS

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SIGNS AND SYMPTOMS

  • Café-au-lait spots (Type 1)

  • 62% seizures3

  • 40% cognitive impairment3

  • 15% hypertension3

  • 15% optic glioma3

  • Skin tumors

  • Lisch nodules

  • Large head

  • Scoliosis

  • Strabismus ...

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