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Diseases » Neurofibromatosis » Diagnosis

Diagnosis of Neurofibromatosis

Neurofibromatosis Diagnosis: Book Excerpts

Diagnosis - Neurofibromatosis

Tests and diagnosis discussion for Neurofibromatosis:

Genetic testing is available for families with documented cases of NF1 and NF2. New (spontaneous) mutations cannot be confirmed genetically. Prenatal diagnosis of familial NF1 or NF2 is also possible utilizing amniocentesis or chorionic villus sampling procedures. (Source: excerpt from NINDS Neurofibromatosis Information Page: NINDS)

Diagnostic Tests for Neurofibromatosis: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Neurofibromatosis.

Neurofibromatosis: Diagnosis
(Professional Guide to Diseases (Eighth Edition))

Diagnosis rests on typical clinical findings, especially neurofibromas and café-au-lait spots. Diagnostic criteria for NF-1 include two or more of the following:

❑ first-degree relative (parent, sibling, child) with known NF-1

❑ six or more café-au-lait spots over 5 mm in diameter in a prepubertal patient and 15 mm or more in a postpubertal patient

❑ freckling in the axillary or inguinal region

❑ optic pathway glioma

❑ two or more Lisch nodules on the iris

❑ osseous lesion, such as sphenoid dysplasia or thinning long-bone cortex.

Diagnostic criteria for NF-2 include a first-degree relative with NF-2 and two of the following:

❑ neurofibroma, meningioma, schwannoma, glioma, juvenile posterior subcapsular lenticular opacity

❑ unilateral eighth nerve mass

❑ bilateral eighth nerve masses seen on magnetic resonance imaging (MRI) or computed tomography (CT) scan.

X-rays, MRI, and CT scan may be indicated to determine the presence of widening internal auditory meatus and intervertebral foramen. An eye examination to look for Lisch nodules should be done on patients suspected of having NF-1. Myelography may be used to identify spinal cord tumors, and lumbar puncture with cerebrospinal fluid analysis will reveal elevated protein concentration in the presence of spinal neurofibromas and acoustic tumors. Deoxyribonucleic acid analysis and prenatal diagnosis may also be done in some families.

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Source: Professional Guide to Diseases (Eighth Edition), 2005