Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an uncommon diagnosis that should be considered in patients with multiple compressive neuropathies. We present the case of a woman who presented with bilateral hand numbness and weakness. Electrodiagnostic testing revealed bilateral carpal tunnel syndrome, bilateral ulnar neuropathy at the elbow, left peroneal neuropathy at the fibular head, and a primarily demyelinating generalized sensorimotor neuropathy. Subsequent genetic testing identified a deletion at chromosome 17p11.2 to confirm the diagnosis of HNPP. Treatment of this largely self-limiting disease is controversial, and this patient suffered minimal disability with treatment including splinting and surgical releases.

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References

  1. 1.

    Koehler PJ (2003) Hereditary neuropathy with liability to pressure palsies: the first publication (1947). Neurology 60(7):1211–1213

    PubMed  Google Scholar 

  2. 2.

    Mertogja P, Silander K, Kalimo H et al (1997) Epidemiology of hereditary neuropathy with liability to pressure palsies in south western Finland. Neuromuscul Disord 7(8):529–532

    Article  Google Scholar 

  3. 3.

    Koc F, Guzel R, Benliday IC et al (2006) A rare genetic disorder in the differential diagnosis of the entrapment neuropathies: hereditary neuropathy with liability to pressure palsies. J Clin Rheumatol 12(2):78–82

    PubMed  Article  Google Scholar 

  4. 4.

    Mouton P, Tardieu S, Gouider R et al (1999) Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 52(7):1440–1446

    PubMed  CAS  Google Scholar 

  5. 5.

    Dubourg O, Mouton P, Brice A, et al (2000) Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 10:206–208

    PubMed  Article  CAS  Google Scholar 

  6. 6.

    Crum BA, Sorenson EJ, Abad GA, et al (2000) Fulminant case of hereditary neuropathy with liability to pressure palsy. Muscle Nerve 23:970–983

    Article  Google Scholar 

  7. 7.

    Bird TD (2005) Hereditary neuropathy with liability to pressure palsies. Gene reviews: http://www.geneclinics.org/profiles/hnpp/details.html

  8. 8.

    Gouider R, LeGuern, E, Gugenheim M, et al (1995) Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 45(11):2018–2023

    PubMed  CAS  Google Scholar 

  9. 9.

    Infante J, Garcia A, Combarros O et al (2001) Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion. Muscle Nerve 24(9):1149–1155

    PubMed  Article  CAS  Google Scholar 

  10. 10.

    Andersson PB, Yuen E, Parko K et al (2000) Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 54(1):40

    PubMed  CAS  Google Scholar 

  11. 11.

    Li J, Krajewski K, Shy ME et al (2002) Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 58(12):1769–1773

    PubMed  Google Scholar 

  12. 12.

    Sander MD, Abbasi D, Ferguson AL (2005) The prevalence of hereditary neuropathy with liability to pressure palsies in patients with multiple surgically treated entrapment neuropathies. J Hand Surg (Am) 30(6):1236–1241

    Article  Google Scholar 

  13. 13.

    Lane JE, Foulkes GD, Hope TD et al (2001) Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy. J Hand Surg 26A:670–674

    Google Scholar 

  14. 14.

    Bissar-Tadmouri, N et al (2000) Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. Clin Genet 58(5):396–402

    PubMed  Article  CAS  Google Scholar 

  15. 15.

    Li J, Krajewski K, Lewis RA et al (2004) Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve 29:205–210

    PubMed  Article  Google Scholar 

  16. 16.

    Rizzuto N, Moretto G, Galiazzo Rizzuto S (1993) Clinical spectrum of the tomaculous neuropathies. Report of 60 cases and review of the literature. Ital J Neurol Sci 14(9):609–617

    PubMed  Article  CAS  Google Scholar 

  17. 17.

    Pellissier JF, Pouget J, de Victor B et al (1987) Tomaculous neuropathy. A histopathological study and electroclinical correlates in 10 cases. Rev Neurol (Paris) 143(4):263–278

    CAS  Google Scholar 

  18. 18.

    Stogbauer F, Young P, Kuhlenbaumer G, et al (2000) Hereditary recurrent focal neuropathies: clinical and molecular features. Neurology 54(3):546

    PubMed  CAS  Google Scholar 

  19. 19.

    Beekman R, Visser LH (2002) Sonographic detection of diffuse peripheral nerve enlargement in hereditary neuropathy with liability to pressure palsies. J Clin Ultrasound 30:433–436

    PubMed  Article  Google Scholar 

  20. 20.

    Sanahuja J, Franco E, Rojas-Garcia R et al (2005) Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. Arch Neurol 62(12):1911–1914

    PubMed  Article  Google Scholar 

  21. 21.

    Amato AA, Barohn RJ (1996) Muscle Nerve 19(6):770–773

    PubMed  Article  CAS  Google Scholar 

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Correspondence to Marc J. Grossman MD.

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Grossman, M.J., Feinberg, J., DiCarlo, E.F. et al. Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion. HSS Jrnl 3, 208–212 (2007). https://doi.org/10.1007/s11420-007-9056-1

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Key words

  • hereditary neuropathy with liability to pressure palsies
  • electrodiagnostics
  • compressive neuropathies
  • carpal tunnel syndrome
  • genetic testing
  • tomaculae