Download presentation
Presentation is loading. Please wait.
Published byEgbert Wood Modified over 9 years ago
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
Similar presentations
© 2025 SlidePlayer.com. Inc.
All rights reserved.