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CONDITION/DISORDER SYNONYMS
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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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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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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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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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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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