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

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.