PMID- 18218131
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20100628
LR  - 20211020
IS  - 1749-7221 (Electronic)
IS  - 1749-7221 (Linking)
VI  - 3
DP  - 2008 Jan 24
TI  - Unusual presentation of hereditary neuropathy with liability to pressure palsies.
PG  - 2
LID - 10.1186/1749-7221-3-2 [doi]
AB  - BACKGROUND: Hereditary neuropathy with liability to pressure palsies (HNPP) is an 
      autosomal-dominant painless peripheral neuropathy characterized by episodes of 
      repeated focal pressure neuropathies at sites of entrapment/compression, with a 
      considerable variability in the clinical course. Electrodiagnostic and genetic 
      testing are important in the diagnostic evaluation of these patients. CASE 
      PRESENTATION: We report an unusual HNPP phenotype, five compression neuropathies 
      in four nerves in a patient with bilateral hand numbness. A 42-year-old female, 
      presented with acute bilateral paresthesias and weakness in her hands after 
      starting yoga exercises requiring hyperextension of her hands at the wrists. Her 
      presentation was complicated by: a) a remote history of acute onset foot drop and 
      subsequent improvement, b) previous diagnoses of demyelinating peripheral 
      neuropathy, possibly Charcot-Marie-Tooth disease, and c) exposure to leprosy. 
      Electrodiagnostic testing showed 5 separate compression neuropathies in 4 nerves 
      including: severe left and right ulnar neuropathies at the wrist, left and right 
      median neuropathies at the wrist and left ulnar neuropathy at the elbow. There 
      was a mild generalized, primarily demyelinating, peripheral polyneuropathy. Based 
      on the clinical suspicion and electrodiagnostic findings, consistent with 
      profound demyelination in areas of compression, genetic analysis was done which 
      identified a deletion of the PMP-22 gene consistent with HNPP. CONCLUSION: HNPP 
      can present with unusual phenotypes, such as 5 separate mononeuropathies, 
      bilateral ulnar and median neuropathies at the wrists and ulnar neuropathy at the 
      elbow with mild peripheral demyelinating polyneuropathy associated with the 
      PMP-22 gene deletion.
FAU - Farooq, Muhammad U
AU  - Farooq MU
AD  - Department of Physical Medicine and Rehabilitation, Michigan State University, 
      East Lansing, MI, USA. muhammad.farooq@ht.msu.edu
FAU - Martin, Jayne H W
AU  - Martin JH
FAU - Andary, Michael T
AU  - Andary MT
LA  - eng
PT  - Case Reports
DEP - 20080124
PL  - United States
TA  - J Brachial Plex Peripher Nerve Inj
JT  - Journal of brachial plexus and peripheral nerve injury
JID - 101265114
PMC - PMC2248584
EDAT- 2008/01/26 09:00
MHDA- 2008/01/26 09:01
PMCR- 2008/01/24
CRDT- 2008/01/26 09:00
PHST- 2007/11/30 00:00 [received]
PHST- 2008/01/24 00:00 [accepted]
PHST- 2008/01/26 09:00 [pubmed]
PHST- 2008/01/26 09:01 [medline]
PHST- 2008/01/26 09:00 [entrez]
PHST- 2008/01/24 00:00 [pmc-release]
AID - 1749-7221-3-2 [pii]
AID - 10.1186/1749-7221-3-2 [doi]
PST - epublish
SO  - J Brachial Plex Peripher Nerve Inj. 2008 Jan 24;3:2. doi: 10.1186/1749-7221-3-2.