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Neurofibromatosis

Neurofibromatosis. Ben Saward ST3 VTS February 2012. Types. Type I- von Recklinhausen ’ s Disease Peripheral Type II- bilateral acoustic neurofibromatosis Central. NF type I. Genetics NF1 gene- long arm chromosome 17 Autosomal dominant Prevalence- 1 in 3000 births. All races affected

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Neurofibromatosis

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  1. Neurofibromatosis Ben Saward ST3 VTS February 2012

  2. Types • Type I- von Recklinhausen’s Disease • Peripheral • Type II- bilateral acoustic neurofibromatosis • Central

  3. NF type I • Genetics • NF1 gene- long arm chromosome 17 • Autosomal dominant • Prevalence- 1 in 3000 births. All races affected • Associated with: • Renal artery stenosis, pulmonary fibrosis, cardiomyopathy • Phaeochromo, optic nerve glioma, glioblastoma • Ependymomas, astrocytomas, meningiomas • Medullary thyroid carcinoma

  4. NF type 1 Clinical features Skin- Café au lait (6 or more), cutaneous NF and others Skeletal- congenital bone abnormalities Nervous system- PNS and CNS tumours, seizures, learning difficulties Eyes- pulsating exopthalmos, iris changes Others- hypertension, prec puberty Diagnosis- clinical findings Treatment- excision of lesions only if necessary eg mengioma Prognosis- 75% individuals no complications

  5. NF type II Genetics NF2 gene- long arm chromosome 22 Autosomal dominant Clinical features Predominantly central features Bilateral acoustic neurofibromas Multiple intracranial schwannomas Few skin fibromas

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