A report of hereditary neuropathy with liability to pressure palsy (HNPP) Presenting with brachial Plexopathy: The value of complete electrodiagnostic testing

Neurodiagnostic Journal

Volumn 51, Issue 3, 2011, Pages 183-190

  Bulusu, Srinivas ^a   McMillan, Hugh J ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

Brachial plexus neuropathy; Electromyography; Hereditary neuropathy with liability to pressure palsy (HNPP); Hereditary sensory and motor neuropathy

Indexed keywords

DIAGNOSIS; ELECTROMYOGRAPHY;

BRACHIAL PLEXUS NEUROPATHIES; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY (HNPP); HEREDITARY SENSORY AND MOTOR NEUROPATHY; NERVE CONDUCTION STUDY;

WELL TESTING;

PERIPHERAL MYELIN PROTEIN 22;

ADOLESCENT; ARM WEAKNESS; BRACHIAL PLEXUS NEUROPATHY; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC VALUE; ELECTRODIAGNOSIS; FAMILY HISTORY; GENETIC SCREENING; HAND PARESTHESIA; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; MALE; MEDICAL LITERATURE; MUSCLE STRENGTH; NEUROPATHY; PARALYSIS; PHYSICAL EXAMINATION; REVIEW; ARTHROGRYPOSIS; ARTICLE; ELECTROMYOGRAPHY; HEREDITARY MOTOR SENSORY NEUROPATHY; METHODOLOGY; PATHOPHYSIOLOGY;

ADOLESCENT; ARTHROGRYPOSIS; BRACHIAL PLEXUS NEUROPATHIES; ELECTROMYOGRAPHY; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE;

EID: 80655147948     PISSN: 21646821     EISSN: None     Source Type: Journal    
DOI: 10.1080/1086508x.2011.11079818     Document Type: Review

References (25)

1. Amato AA, Gronseth GS, Callerame KJ, Kagan-Hallet KS, Bryan WW, Barohn RJ. Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve 1996; 19:16-22. (Pubitemid 26010946)
2. Bayrak AO, Battologlu E, Turker H, Baris I, Oztas G. Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: a case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade. Brain Dev 2009; 31:445-48.
3. Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72:143-51. (Pubitemid 23029701)
4. Chance PF. Overview of hereditary neuropathy with liability to pressure palsies. Ann N Y Acad Sci 1999 Sep 14; 883:14-21. (Pubitemid 129495409)
5. Cruz-Martinez A, Arpa J. Pediatric bilateral carpal tunnel syndrome as the first manifestation of hereditary neuropathy with liability to pressure palsies (HNPP). Eur J Neurol 1998; 5:316-17.
6. De Jong JGY. Over families met hereditaire dispositie tot het optreden van neuritiden, gecorreleerd mrt migraine. Psychiatr Neurol Bull 1947; 50:60-76.
7. Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 2000; 10:206-08. (Pubitemid 30151133)
8. Felice KJ. Acute anterior interosseous neuropathy in a patient with hereditary neuropathy with liability to pressure palsies: a clinical and electromyographic study. Muscle Nerve 1995; 18:1329-31.
9. Felice KJ, Leicher CR, DiMario FJ Jr. Hereditary neuropathy with liability to pressure palsies in children. Pediatr Neurol 1999; 21:818-21. (Pubitemid 29525485)
10. Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Léger JM, Vallat JM, Agid Y, Bouche P, Brice A. Clinical, electrophysiological and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and chromosome 17p11.2 deletion. Neurology 1995; 45:2018-23.
11. Ichikawa K, Nezu A. Hereditary neuropathy with liability to pressure palsies in childhood: report of a case and a brief review. Brain Dev 2005; 27:152-54.
12. Kumar N, Muley S, Pakiam A, Parry GJ. Phenotypic variability leads to under-recognition of HNPP. J Clin Neuromuscul Dis 2002; 3:106-12.
13. Lesca G, Meunier S, Zine A, Jeannoël P, Latour P, Vandenberghe A. Hereditary neuropathy with tendency to pressure palsies (HNPP) in a child: clinical and biological diagnosis. A case report. Arch Pediatr 2000; 7:271-73. (Pubitemid 30171455)
14. 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. (Pubitemid 34663576)
15. Lupski JR, Wise CA, Kuwano A, Pentoa L, Parke JT, Glaze DG, Ledbetter DH, Greenberg G, Patel PI. Gene dosage is the mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet 1992; 1:29-33.
16. 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; 7:529-32. (Pubitemid 28008962)
17. Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999; 52:1440-46. (Pubitemid 29190538)
18. Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo ML, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus ML, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996; 4:25-33. (Pubitemid 26094167)
19. Nelis E, Haites N, Van Broeckhoven C. Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat 1999; 13:11-28. (Pubitemid 29014372)
20. Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA. A frameshift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994; 6:263-66. (Pubitemid 24188623)
21. Pareyson D, Solari A, Taroni F, Botti S, Fallica E, Scaioli V, Ciano C, Sghirlanzoni A. Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy. Muscle Nerve 1998; 21:1686-91. (Pubitemid 28545699)
22. Poloni TE, Merlo IM, Alfonsi E, Marinou-Aktipi K, Botti S, Arrigo A, Taroni F, Ceroni M. Facial nerve is liable to pressure palsy. Neurology 1998; 51:320-22.
23. Sellman MS, Mayer RF. Conduction block in hereditary neuropathy with susceptibility to pressure palsies. Muscle Nerve 1987: 10:621-25. (Pubitemid 17130873)
24. Shy ME, Garbern JY, Kamholz J. Hereditary motor and sensory neuropathies: a biological perspective. Lancet Neurol 2002; 1:110-18. (Pubitemid 37163496)
25. Verhagen WI, Gabreëls-Festen AA, van Wensen PJ, Joosten EM, Vingerhoets HM, Gabreëls FJ, de Graaf R. Hereditary neuropathy with liability to pressure palsies: a clinical, electroneurophysiological and morphological study. J Neurol Sci 1993; 116:176-84. (Pubitemid 23176854)