[MIM 101 000]

(Schwannomatosis of the 8th nerve)

Prevalence: 1/40,000 to 1/100.000.

Autosomal dominant transmission of a mutation of the NF2 gene on 22q12 but de novo mutations are observed in 50% of cases. If de novo mutation appears during embryogenesis, only certain cells carry it (Mosaic). This gene codes for a protein called merlin or schwannonim which inhibits the growth of some tumors. In general, patients become symptomatic in their third decade.

Manifestations:

-        often bilateral acoustic (90%) neuroma (Schwannoma); neuropathies of other cranial nerves, retinal glioma, meningioma or spinal ependymoma

-        juvenile cataract (60%), retinitis pigmentosa

-        subcutaneous schwannomas and neurofibromas

Sometimes:  cutaneous spots that are either, pigmented and hairy or depigmented and glabrous.

Anesthetic implications:

deafness; nerve tumors; sometimes paraplegia.

References : 

Updated: November 2018