Early-onset Hereditary Neuropathy with Liability to Pressure Palsy

Abstract

The clinical onset of hereditary neuropathy with liability to pressure palsy (HNPP) in childhood is rarely reported. On the basis of a 5-year-old affected patient, we reviewed the cases reported in the literature to evaluate the clinical and genetic characteristics of patients with an early onset (<10 years) of HNPP.

hereditary neuropathy with liability to pressure palsies (HNPP) - tomaculous neuropathy - children - peripheral myelin protein 22 (PMP22)

References

• 1 Barisic N, Skarpa D, Jusic A, Jadro-Santel D. Steroid responsive familial neuropathy with liability to pressure palsies.  Neuropediatrics. 1990;  21 191-192
• 2 Behse F, Buchthal F, Carlsen F, Knapplis GG. Hereditary neuropathy with liability to pressure palsies: electrophysiological and histopathological aspects.  Brain. 1972;  95 777-794
• 3 Cruz Martinez A, Arpa J. Carpal tunnel syndrome in childhood: study of 6 cases.  Electroenc Clin Neurophysiol. 1998;  109 304-308
• 4 Del Colle R, Fabrizi GM, Turazzini M, Cavallaro T, Silvestri M, Rizzato N. Hereditary neuropathy with liability to pressure palsy: electrophysiological and genetic study of a family with carpal tunnel sindrome as only clinical manifestation.  Neurol Sci. 2003;  24 57-60
• 5 Gabreels-Festen AA, Gabreels FJ, Joosten EM, Vingerhoets HM, Renier WO. Hereditary neuropathy with liability to pressure palsies in childhood.  Neuropediatrics. 1992;  23 138-143
• 6 Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Leger JM. et al . Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.  Neurology. 1995;  45 2018-2023
• 7 Hardon WJ, van Alfen N, Zwarts MJ, Rotteveel JJ. Hereditary neuropathy with liability to pressure palsies in a toddler.  Neurology. 2002;  59 2008
• 8 Ichikawa K, Nezu A. Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review.  Brain Dev. 2005;  27 152-154
• 9 Kim SM, Chung KW, Choi BO. et al . Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.  Exp Mol Med. 2004;  36 28-35
• 10 Lesca G, Meunier S, Zine A, Jeannoel P, Latour P, Vanderberghe A. Le neuropathie hereditaire avec paralysie à la pression chez l' enfant: diagnostic, clinique et biologique. A'propos d' un cas.  Arch Pediatr. 2000;  7 271-273
• 11 Lönqvist T, Pihko H. Hereditary neuropathy with liability to pressure palsies (HNPP) in a toddler presenting with toe-walking, pain and stifrhess.  Neuromuscul Disord. 2003;  13 827-829
• 12 Meretoja P, Silander K, Kalimo H, Aula P, Meretoja A, Savontaus ML. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland.  Neuromuscul Disord. 1997;  7 529-532
• 13 Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM. et al . A frame shift mutation in the PMP 22 gene in hereditary neuropathy with liability to pressure palsies.  Nat Genet. 1994;  6 263-266
• 14 Ohkoshi N, Kohno Y, Hayashi A, Wada T, Shoji S. Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies.  Neurology. 2001;  56 1415
• 15 Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A. et al . Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17pll.2-12 deletion.  Neurology. 1996;  46 1133-1137
• 16 Roos D, Thygesen P. Familial recurrent polyneuropathy: a family and a survey.  Brain. 1972;  95 235-248
• 17 Stögbauer F, Young P, Kuhlenbäumer G, De Jonghe P, Timmerman V. Hereditary recurrent focal neuropathies: Clinical and molecular features.  Neurology. 2000;  54 546-551
• 18 Vital A, Vital C, Latour P, Ferrer X, Rouanet-Lariviere M, Brechenmacher C. et al . Peripheral nerve biopsy study in 19 cases with 17p11.2 deletion.  J Neuropathol Exp Neurol. 2004;  63 1167-1172
• 19 White CM, Pritchard J, Turner Stokes L. Exercise for people with peripheral neuropathy.  Cochrane Database Syst Rev. 2004;  18 CD003904

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