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Konjenital Ağrı Duyarsızlığı ile Anhidrosis Sendromu: Diyala vilayeti / Irak’tan Bir Olgu Sunumu

Anhidroz sendromu (CIPA) ile ağrıya konjenital duyarsızlık; ağrıya duyarsızlık, terleme yetersizliği ve zeka geriliği ile seyreden, nadir görülen otozomal resesif geçişli bir hastalıktır. Acıyı ve sıcaklığı hissedememek, sıklıkla tekrarlayan şiddetli ve istemeden kendi kendine zarar vermeye yol açar; Hastalar deri ve kemik hasarından yavaş yavaş yerleştiğinden bunlar ciddi komplikasyonlara neden olabilir. Bu yazıda, tekrarlayan göğüs ve her iki ayak bileği eklemi enfeksiyonu nedeniyle hastanenin acil servisine tekrarlayan ziyaretleri sonrasında CIPA tanısı konan dört yaşında bir erkek çocuğu vakayı sunuyoruz. Vaka raporu Irak'ın Diyala eyaletine bağlı Bakuba kentindeki Albatool Doğum ve Çocuk Eğitim Hastanesi'ne 4 yaşında bir erkek çocuk, tekrarlayan göğüs ve her iki ayak bileği eklemi enfeksiyonu nedeniyle yatırıldı. Akraba anne babanın ikinci çocuğudur. Altı yaşındaki kız kardeşi normal. Anne, doğumdan hemen sonra çocuğunun yüksek ateşi olduğunu, iğnelere ve iğnelere tepki vermediğini ve asla sıcak havaya karşı tahammülsüzlükten terlemediğini fark etti. Muayenede zihinsel gelişim geriliği, üst ve alt köpek dişlerinin yokluğu, tedaviye dirençli peçete ve yüz dermatiti ve her iki topuğun derin irinli ülserleri saptandı. Ayak radyolojisi osteomiyelit belirtileri gösteriyor. Sırasıyla üç ve beş yaşında ölen iki erkek kuzende aynı hastalık öyküsü vardır, genel klinik durum klinik CIPA şüphesini garanti etmiştir. Son derece nadir görülen bu hastalığın erken teşhisi, komplikasyonların tedavisi ve önlenmesi için çok önemlidir. Sonuç: Bu vaka raporu, bir klinisyenin, birden fazla istemeden kendi kendine zarar veren, anhidroz ve ağrı duyarsızlığı olan çocukları yönetirken CIPA araştırmasından şüphelenmesi gerektiğini göstermektedir.

Anahtar Kelimeler:

CIPA, kendini yaralama, kendini yaralama

Congenital insensitivity to pain with anhidrosis syndrome: A case report in Diyala province / Iraq

Congenital insensitivity to pain with anhidrosis syndrome (CIPA); is a rare autosomal recessive disorder presenting with pain insensitivity, sweating inability, and intellectual disability. The incapability to sense pain and temperature often leads to recurrent severe and inadvertent self-inflicted harm; these can result in severe complications, as patients settle slowly from skin and bone harm. We present a case of a four-year-old boy with a diagnosis of CIPA, after repeated visits to the hospital emergency department for repeated chest and both ankle joint infections, which prompted further investigations. Case report A four-year-old boy was admitted to Albatool teaching hospital for maternity and children in Baqubah, Diyala, Iraq because of recurrent chest and both ankle joints infection. He is the second child of consanguineous parents. His six-year-old sister is normal. The mother noticed early after birth that her child was suffering from high fever, he was not responding to pricking and injections, and he never sweats with intolerance to warm weather. Examination revealed mental developmental delay, absent upper and lower canine teeth, napkin and face dermatitis which was intractable to therapy, and deep pus discharging ulcers of both heels. Radiology of feet shows signs of osteomyelitis. There is a history of the same disease in two male cousins who died at age of three and five years respectively, the overall clinical context warranted a clinical suspicion of CIPA. Early diagnosis of this extremely rare disease is very important for the treatment and prevention of complications. Conclusion: This case report shows that a clinician should suspect to investigate for CIPA when managing kids with multiple inadvertent self-inflicted harms, anhidrosis, and pain insensitivity.

Keywords:

CIPA, self-mutilation, osteomyelitis,

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1-Altassan R, Al SH, Masoodi TA, Al DH, Khalifa O, Al-Zaidan H, et al. Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. Am J Med Genet Part A. 2017;173:1009–16.
2-Pérez-López LM, Cabrera-González M, Gutiérrez-de la Iglesia D, Ricart S, Knörr-Giménez G. Update review and clinical presentation in congenital insensitivity to pain and anhidrosis. Case Rep Pediatr. 2015;2015:1–7.
3-Beigelman A, Levy J, Hadad N, Pinsk V, Haim A, Fruchtman Y, et al. Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor. Clin Immunol. 2009;365–72.
4-Van Ness Dearborn G. A case of congenital general pure analgesia. J Nerv Ment Dis. 1932;75:612–5
5-Rasmussen P. The congenital insensitivity-to-pain syndrome (analgesia congenita) Int J Paediatr Dent. 1996;6:117–22.
6-Lrod FB, Hilz MJ. Inherited autonomic neuropathies. Semin Neurol. 2003;23(4):381–90.
7-Monique M. Ryan. Congenital Insensitivity to Pain and Anhidrosis. Nelson Textbook of Pediatrics21th ed., 2020;633.2: 12893.
8-Shorer Z, Moses SW, Hershkovitz E, et al. Neurophysiologic studies in congenital insensitivity to pain with anhidrosis. Pediatric neurology. 2001; 25: 397-400.
9-Daneshjou K, Jafarieh H, Raaeskarami SR. Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. Iranian journal of pediatrics. 2012; 22: 412-416.
10-Indo Y. Nerve growth factor, pain, itch, and inflammation: lessons from congenital insensitivity to pain with anhidrosis. Expert review of neurotherapeutics. 2010; 10: 1707-1724.
11-Zhang Y, Haga N. Skeletal complications in congenital insensitivity to pain with anhidrosis: a case series of 14 patients and review of articles published in Japanese. Journal of orthopedic science: official journal of the Japanese Orthopaedic Association. 2014; 19: 827-831.
12-asnur AH, Sasnur PA, Ghaus-Ul RS. Congenital insensitivity to pain and anhidrosis. Indian J Orthop. 2011 May-Jun;45(3):269–71.
13-Li N, Sun J, Guo S, Liu Y, Wang C, Zhu C, et al. Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report. Medicine (Baltimore). 2018;97:e13209.
14-Hartono F, Tanjung C, Besinga KE, Marpaung D, Ananditya T, Budisantoso AB. Catastrophic results due to unrecognizing of congenital insensitivity to pain with anhidrosis in children with multiple long bones fractures: A case report of 27 years follow-up of two siblings. Int J Surg Case Rep. 2020;73:213-7.
15-Hutton A, McKaig S: The dental management of a child with congenital insensitivity to pain. Dent Update. 2010, 37:180-185. 10.12968/denu.2010.37.3.180
16. Schwarzkopf R, Pinsk V, Weisel Y, et al. : Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis]. Harefuah. 2005; 144: 433-437, 453, 452.
17-Nabiyev V, Kara A, Aksoy MC. Multidisciplinary assessment of congenital insensitivity to pain syndrome. Child's nervous system: ChNS: official journal of the International Society for Pediatric Neurosurgery. 2016; 32: 1741-1744.
18-Abdulla M, Khaled SS, Khaled YS, et al. Congenital insensitivity to pain in a child attending a paediatric fracture clinic. Journal of pediatric orthopedics Part B. 2014; 23: 406-410.
19-Szoke G, Renyi-Vamos A, Bider MA. Osteoarticular manifestations of congenital insensitivity to pain with anhydrosis. International orthopaedics. 1996; 20: 107-110
20- Mughal S M, Farhat A (January 29, 2021) Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis. Cureus 13(1): e12984.
21-Khadije Daneshjou, MD, Hanieh Jafarieh, MD,* and Seyed-Reza Raaeskarami, MDCongenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases. Iran J Pediatr. 2012 Sep; 22(3): 412–416.
22-Mehran KARIMI, MD 1 and Razieh FA LLAH, MD, A Case Report of Congenital Insensitivity to Pain and Anhidrosis (CIPA) Iran J Child Neurol. 2012 Summer; 6(3): 45–48.
23- Fruchtman Y., Perry Z. H., Levy J. Morbidity characteristics of patients with congenital insensitivity to pain with anhidrosis (CIPA) Journal of Pediatric Endocrinology and Metabolism. 2013;26(3-4):325–332.
24- Priya Rajbansh, Mamta Yadav, Piyush Kumar, and Anupam Das, Congenital Insensitivity to Pain with Anhidrosis: A Rare Entity, Indian Dermatol Online J. 2020; 11(2): 274–277.
25- Miranda, C., Selleri, S., Pierotti, M., Greco, A. :The M581V Mutation, Associated with a Mild Form of Congenital Insensitivity to Pain with Anhidrosis, Causes Partial Inactivation of the NTRK1 Receptor. Journal of Investigative Dermatology.2002; 119(4), 978-979.
26. Gherlinzoni F, Gherlinzoni G, Neurogenic joint disease secondary to congenital insensitivity to pain. Italian Journal of Orthopaedics and Traumatology, 01 Dec 1982, 8(4):487-496
27. Al Amroh HH, Reyes AL, Barret Austin Hillary J, Al Khaffaf WH. Painless: a case of congenital insensitivity to pain in a 5-year-old male. Oxf Med Case Reports. 2020 24; (7):omaa046.