Resident's Flash Card: Neurofibromatosis
Neurofibromatosis - I (von Recklinghausen’s disease)
- autosomal dominant (abnormality is on chromosome 17)
- diagnostic criteria include six or more cafe-au-lait spots, axillary or inguinal freckling, two (or more) neurofibromas, optic glioma (most common CNS neoplasm - occurs in 30-90% and is bilateral in 10-20%), iris hamartoma, distinctive osseous lesions, or a first-degree relative with NF-1
- hypertension may be found with renal artery fibromuscular dysplasia
- neurofibromas can occur in the urinary and gastrointestinal tracts
- increased incidence of all types of neoplasms
- malignant transformation of the neurofibroma into neurofibrosarcoma occurs in about 5%
- lateral thoracic meningoceles are a common manifestation of spinal neurofibromatosis; most authors believe that they are secondary to menigeal dysplasia (dural ectasia). 80% of patients with lateral thoracic meningoceles have neurofibromatosis.
- a plexiform type of neurofibroma is virtually pathognomonic of neurofibromatosis
Neurofinbromatosis - II
- autosomal dominant (abnormality is on chromosome 22)
- bilateral 8th cranial nerve tumors or
- unilateral 8th cranial nerve tumor or neurofibroma, menigioma, glioma, Schwannoma, or capsular cataract and a first degree relative with NF-2
From Sumer's Radiology Site http://www.sumerdoc.blogspot.com -The Top Radiology Magazine. Teleradiology Providers at www.teleradproviders.com Mail us at sales@teleradproviders.com
Source: Sumer's Radiology Site - Category: Radiologists Authors: Sumer Sethi Source Type: blogs
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