Familiaire schwannomatose, een nieuwe entiteit te onderscheiden van neurofibromatose 1 en 2

- A Dutch family was diagnosed with familial schwannomatosis, a disorder that is distinct from neurofibromatosis (NF) type 1 and 2. The proband and 4 relatives had schwannomas on spinal roots, cranial nerves, plexuses, and peripheral nerves; no vestibular schwannomas were found. One of the affected relatives was later diagnosed with intracerebral glioma; schwannomas were not found. None of the living affected relatives had genomic defects affecting the NF2 gene. Large deletions in the proximal region of chromosome 22 were found in all resected schwannomas. Schwannomatosis can occur sporadically or be inherited. Pain is often the clinical manifestation of schwannomas. Resection should be reserved for tumours that are symptomatic or threaten to cause spinal cord compression.

Ned Tijdschr Geneeskd. 2007;151:1891-5