A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA)

Mehran KARIMI, Razieh FALLAH

Abstract


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How to Cite this Article: Karimi M, Fallah R. A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA). Iran J Child Neurol 2012; 6(3): 45-48.

 

Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensoryautonomic neuropathies type IV (HSAN type IV) is an extremely rare autosomalrecessive disorder initially described by Swanson in 1963.We report a 2.5-year-old boy with clinical features of CIPA as the first case in Iran.The symptoms included recurrent episodes of hyperthermia and unexplainedfever that began in early infancy, anhidrosis (inability to sweat), profound lossof pain sensitivity, neurodevelopmental delay, unconscious self-mutilation offingers, lips and tongue, corneal lacerations, palmar hyperkeratosis, non-painfulfracture and joint deformities in the right ankle. Tearing, deep tendon reflexesand motor and sensory nerve action potentials were normal.Prenatal screening is the sole accessible option to prevent the birth of anaffected child as no cure is available. Early recognition of CIPA patients and itsorthopedic complications, prevention of accidental injuries, regular visual andeye follow-up and specific dental management could be useful in the reductionof frequency and severity of complications.

 

References

  1. Nagasako EM, Oaklander AL, Dworkin RH.Congenital insensitivity to pain: an update. Pain 2003 Feb;101(3):213-9.
  2. Swanson AG. Congenital insensitivity to pain with anhidrosis. A unique syndrome in two male siblings.Arch Neurol 1963 Mar;8:299-306.
  3. Dave N, Sonawane A, Chanolkar S. Hereditary sensoryautonomic neuropathy and anaesthesia - a case report.Indian J Anaesth 2007;51(6):528-30.
  4. Sasnur AH, Sasnur PA, Ghaus-Ul RS.Congenital insensitivity to pain and anhidrosis. Indian J Orthop 2011May-Jun;45(3):269-71.
  5. Lin YP, Su YN, Weng WC, Lee WT. Novel neurotrophictyrosine kinase receptor type 1 gene mutation associated with congenital insensitivity to pain with anhidrosis. J Child Neurol 2010 Dec;25(12):1548-51.
  6. Eslamian F, Soleymanpour J. Case report: two casereports of hereditary sensory autonomic neuropathy typeII in a family. Med J Tabriz Uni Med Sci 2009;31(1):91-4.
  7. Gharagozlou M, Zandieh F, Tabatabaei P, Zamani GH.Congenital sensory neuropathy as a differential diagnosis for phagocytic immunodeficiency. Iran J Allergy Asthma Immunol 2006 Mar;5(1):35- 7.
  8. Menkes JH. Heredo degenerative Diseases. In: Menkes JH, Sarnat HB, Maria BL. Child neurology. 7th ed.Philadelphia: Lippincott; 2006. p. 194-8.
  9. Schwarzkopf R, Pinsk V, Weisel Y, Atar D, Gorzak Y.Clinical and genetic aspects of congenital insensitivity topain with anhidrosis. Harefuah 2005 Jun;144(6):433-7,453, 452. [Article in Hebrew]
  10. Machtei A, Levy J, Friger M, Bodner L. Osteomyelitisof the mandible in a group of 33 pediatric patients with congenital insensitivity to pain with anhidrosis. Int J Pediatr Otorhinolaryngol 2011 Apr;75(4):523-6.
  11. Jarade EF, El-Sheikh HF, Tabbara KF. Indolent cornealulcers in a patient with congenital insensitivity to pain with anhidrosis: a case report and literature review. Eur J Ophthalmol 2002 Jan-Feb;12(1):60-5.
  12. John D, Thomas M, Jacob P Neurotrophic keratitisand congenital insensitivity to pain with anhidrosis-a case report with 10-year follow-up. Cornea 2011 Jan;30(1):100-2.
  13. Bonkowsky JL, Johnson J, Carey JC, Smith AG,Swoboda KJ. An infant with primary tooth loss andpalmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics 2003 Sep;112(3 Pt 1):e237-41.
  14. Neves BG, Roza RT, Castro GF. Traumatic lesions from congenital insensitivity to pain with anhidrosis in a pediatric patient: dental management. Dent Traumatol 2009 Oct;25(5):545-9.

 


Keywords


HSAN type IV; Congenital insensitivity to pain; Anhidrosis

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DOI: https://doi.org/10.22037/ijcn.v6i3.3536

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