Sunday, December 21, 2008

Neurofibromatosis



Station 5 PACES spot diagnosis in skin station ! Remember the criteria of diagnosis, so do not forget to check for Rinne/Weber if there is a tunning fork nearby and also ask for permission to ask about family history.

Table 2 : Criteria for Neurofibromatosis

Type 1 (Von Recklinghausen’s Disease)

Type 2

· Six or more cafĂ©-au-lait spots, the greatest diameter of which is more than 5 mm in prepubertal patients and more than 15 mm in postpubertal patients

· Two or more neurofibromas or one plexiform neurofibroma. Plexiform neurofibroma is considered by some to be a defining lesion of neurofibromatosis type 1

· Frecking in the axilla or inguinal region (Crowe’s sign)

· Optic glioma

· Two or more Lisch nodules(iris hamartoma)

· A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthroses

· A parent, sibling or child with neurofibromatosis according to the above criteria

· Bilateral eight cranial nerve palsy confirmed by CT or MRI

· A parent, sibling or child with neurofibromatosis type 2 and either unilateral eight nerve mass or any two of the following : neurofibroma, meningioma, glioma, schanoma or juvenile posterior subcapsular lenticular opacity

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