Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2.
The authors report a patient with neurofibromatosis type 2 (NF2) presenting with an axonal mononeuropathy multiplex. Sural nerve biopsy showed small scattered groups of Schwann cells transformed into irregular branching cells with abnormal cell-cell contacts. The authors hypothesize that defective Schwann cell function, due to inactivation of the NF2 gene product merlin, leads to changes in morphology, cell-cell contact, and growth, and finally to degeneration of axons.
Gijtenbeek
J M
JM
Department of Neurology, Neuromuscular Center Nijmegen, the Netherlands. j.gijtenbeek@czzneu.azn.nl
Gabreëls-Festen
A A
AA
Lammens
M
M
Zwarts
M J
MJ
van Engelen
B G
BG
D001369:Axons / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008875:Middle Aged; D016518:Neurofibromatosis 2 / Q000473:pathology*; D010523:Peripheral Nervous System Diseases / Q000473:pathology*; D012583:Schwann Cells / Q000648:ultrastructure; D013497:Sural Nerve / Q000473:pathology