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

Year 2022, Volume: 10 Issue: 3, 134 - 138, 31.12.2022

Jalil İbrahim Al-ezzi

https://doi.org/10.21765/pprjournal.1182084

Abstract

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

Supporting Institution

None

Project Number

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Thanks

Thanks

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

Abstract

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.

Keywords

CIPA, kendini yaralama, kendini yaralama

Project Number

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