When I use a word…: SausagesBMJ 1997; 315 doi: https://doi.org/10.1136/bmj.315.7108.0i (Published 06 September 1997) Cite this as: BMJ 1997;315:i
- Jeff Aronson, clinical pharmacologist
I recently learnt about a rare type of neuropathy called hereditary neuropathy with liability to pressure palsies (abbreviated to HNPP) or hereditary pressure sensitive neuropathy (HPSN), also known as tomaculous neuropathy. In many cases it is associated with a deletion in chromosome 17p11.2. However, the term is not exclusive, and tomaculous changes have been described in other neuropathies, such as type 1B Charcot—Marie—Tooth syndrome and hereditary neuralgic amyotrophy.
Tomaculous refers to the sausage shaped …