Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese

Journal of Orthopaedic Science

Volumn 19, Issue 5, 2014, Pages 827-831

  Zhang, Yasu ^a   Haga, Nobuhiko ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ANHIDROSIS; ARTICLE; BONE AND JOINT INFECTIONS; BONE DISEASE; BONE INJURY; CHILD; CONGENITAL ANALGESIA; CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS; FEMALE; HIP DISLOCATION; HUMAN; INFANT; JAPANESE (PEOPLE); JOINT DISLOCATION; LEG FRACTURE; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; NEUROPATHIC JOINT DISEASE; NEWBORN; ONSET AGE; BONE DISEASES; COMPLICATION; DISLOCATIONS; FRACTURES, BONE; JAPAN; JOINT DISEASES; MIDDLE AGED; NEUROPATHY; PRESCHOOL CHILD; RETROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; BONE DISEASES; CHILD; CHILD, PRESCHOOL; DISLOCATIONS; FEMALE; FRACTURES, BONE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; INFANT; JAPAN; JOINT DISEASES; MALE; MIDDLE AGED; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84919436296     PISSN: 09492658     EISSN: 14362023     Source Type: Journal    
DOI: 10.1007/s00776-014-0595-2     Document Type: Article

References (19)

1. Dyck PJ, Mellinger JF, Reagan TJ, Horowitz SJ, McDonald JW, Litchy WJ, Daube JR, Fealey RD, Go VL, Kao PC, Brimijoin WS, Lambert EH. Not ‘indifference to pain’ but varieties of hereditary sensory and autonomic neuropathy. Brain. 1983;106:373–90.
2. Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol. 2012;71:569–72.
3. Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996;13:485–8.
4. Indo Y. Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor. Clin Auton Res. 2002;12:I20–32.
5. Rotthier A, Baets J, Timmerman V, Janssens K. Mechanisms of disease in hereditary sensory and autonomic neuropathies. Nat Rev Neurol. 2012;8:73–85.
6. Axelrod FB, Gold-von Simson G. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis. 2007. doi:10.1186/1750-1172-2-39.
7. Karmani S, Shedden R, De Sousa C. Orthopaedic manifestations of congenital insensitivity to pain. J R Soc Med. 2001;94:139–40.
8. Feldman DS, Ruchelsman DE, Spencer DB, Straight JJ, Schweitzer ME, Axelrod FB. Peripheral arthropathy in hereditary sensory and autonomic neuropathy types III and IV. J Pediatr Orthop. 2009;29:91–7.
9. Rosemberg S, Nagahashi SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol. 1994;11:50–6.
10. Iijima M, Haga N. Evaluation of nonnociceptive sensation in patients with congenital insensitivity to pain with anhidrosis. Childs Nerv Syst. 2010;26:1085–9.
11. Shatzky S, Moses S, Levy J, Pinsk V, Hershkovitz E, Herzog L, Shorer Z, Luder A, Parvari R. Congenital insensitivity to pain with anhidrosis (CIPA) in Israel-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies. Am J Med Genet. 2000;92:353–60.
12. Schulman H, Tsodikow V, Einhorn M, Levy Y, Shorer Z, Hertzanu Y. Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings. Pediatr Radiol. 2001;31:701–5.
13. Haga N, Kubota M, Miwa Z. Epidemiology of hereditary sensory and autonomic neuropathy type IV and V in Japan. Am J Med Genet A. 2013;161:871–4.
14. Szöke G, Rényi-Vámos A, Bider MA. Osteoarticular manifestations of congenital insensitivity to pain with anhydrosis. Int Orthop. 1996;20:107–10.
15. Bar-On E, Weigl D, Parvari R, Katz K, Weitz R, Steinberg T. Congenital insensitivity to pain. Orthopaedic manifestations. J Bone Jt Surg Br. 2002;84:252–7.
16. Zhang Y, Ogata N, Yozu A, Haga N. Two-dimensional video gait analyses in patients with congenital insensitivity to pain. Dev Neurorehabil. 2013;16:266–70.
17. Köster G, von Knoch M, Willert HG. Unsuccessful surgical treatment of hip dislocation in congenital sensory neuropathy with anhidrosis. A case report. J Bone Jt Surg Br. 1999;81:102–5.
18. Rozentsveig V, Katz A, Weksler N, Schwartz A, Schilly M, Klein M, Gurman GM. The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis. Paediatr Anaesth. 2004;14:344–8.
19. Ali N, Sharma S, Sharma S, Kamal Y, Sharma S. Congenital insensitivity to pain with anhidrosis (HSAN Type IV), extremely rare syndrome that can be easily missed by bone and joint surgeons: a case report. Iran J Pediatr. 2012;22:559–63.