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Neurofibromatosis Ben Saward ST3 VTS February 2012.

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Presentation on theme: "Neurofibromatosis Ben Saward ST3 VTS February 2012."— Presentation transcript:

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 othersCafé au laitcutaneous NF 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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