Journal of Yeungnam Medical Science

Yeungnam University College of Medicine, Yeungnam University Institute Medical Science (영남대 의대 학술지 편집위원회)
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Clinical characteristics of hereditary neuropathy with liability to pressure palsy presenting with monoparesis in the emergency department

  • Kim, Changho (Department of Emergency Medicine, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University) ;
  • Park, Jin-Sung (Department of Neurology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University)
  • Received : 2020.06.09
  • Accepted : 2020.07.17
  • Published : 2020.10.31
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Abstract

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

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References

  1. Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 2000;10:206-8. https://doi.org/10.1016/S0960-8966(99)00103-0
  2. Bird TD. Hereditary neuropathy with liability to pressure palsies. 1998 Sep 28 [updated 2014 Sep 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., editors. $GeneReviews^{(R)}$ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020 [cited 2020 Jun 5]. https://www.ncbi.nlm.nih.gov/books/NBK1392/.
  3. Park JE, Noh SJ, Oh M, Cho DY, Kim SY, Ki CS. Frequency of hereditary neuropathy with liability to pressure palsies (HNPP) due to 17p11.2 deletion in a Korean newborn population. Orphanet J Rare Dis 2018;13:40. https://doi.org/10.1186/s13023-018-0779-5
  4. Schenone A, Nobbio L, Caponnetto C, Abbruzzese M, Mandich P, Bellone E, et al. Correlation between PMP-22 messenger RNA expression and phenotype in hereditary neuropathy with liability to pressure palsies. Ann Neurol 1997;42:866-72. https://doi.org/10.1002/ana.410420607
  5. Celik Y, Kilincer C, Hamamcioglu MK, Balci K, Birgili B, Cobanoglu S, et al. Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. Turk Neurosurg 2008;18:82-4.
  6. Ichikawa K, Nezu A. Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review. Brain Dev 2005;27:152-4. https://doi.org/10.1016/j.braindev.2003.12.005
  7. Andersson PB, Yuen E, Parko K, So YT. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000;54:40-4. https://doi.org/10.1212/WNL.54.1.40
  8. Hong YH, Kim M, Kim HJ, Sung JJ, Kim SH, Lee KW. Clinical and electrophysiologic features of HNPP patients with 17p11.2 deletion. Acta Neurol Scand 2003;108:352-8. https://doi.org/10.1034/j.1600-0404.2003.00132.x
  9. Robert-Varvat F, Jousserand G, Bouhour F, Vial C, Cintas P, Echaniz-Laguna A, et al. Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: neurophysiological data and proposed electrodiagnostic criteria. Muscle Nerve 2018;57:217-21. https://doi.org/10.1002/mus.25666
  10. Li J, Krajewski K, Shy ME, Lewis RA. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002;58:1769-73. https://doi.org/10.1212/WNL.58.12.1769
  11. Drouet A, Guilloton L, Latour P, Ribot C. Recurrent facial nerve paralysis in hereditary neuropathy with liability to pressure palsy. Presse Med 2000;29:655.
  12. Kim KE, Yeom J. Proximal arm weakness is the most common presentation in young Korean soldiers diagnosed as having hereditary neuropathy with liability to pressure palsy (HNPP). J R Army Med Corps 2016;162:352-4. https://doi.org/10.1136/jramc-2015-000520
  13. Lorenzoni PJ, Kay CS, Cavalet C, Arndt RC, Werneck LC, Scola RH. Hereditary neuropathy with liability to pressure palsies: a single-center experience in Southern Brazil. Neurol Int 2016;8:6677.
  14. Kawaguchi N, Suzuki N, Tateyama M, Takai Y, Misu T, Nakashima I, et al. Two cases of elderly-onset hereditary neuropathy with liability to pressure palsy manifesting bilateral peroneal nerve palsies. Case Rep Neurol 2012;4:149-55. https://doi.org/10.1159/000342132