Congenital insensitivity to pain with anhidrosis syndrome: A case report in Diyala province / Iraq
نویسندگان
چکیده
Congenital insensitivity to pain with anhidrosis syndrome (CIPA); is a rare autosomal recessive disorder presenting insensitivity, sweating inability, and intellectual disability. The incapability sense temperature often leads recurrent severe inadvertent self-inflicted harm; these can result in complications, as patients settle slowly from skin bone harm. We present case of four-year-old boy diagnosis CIPA, after repeated visits the hospital emergency department for chest both ankle joint infections, which prompted further investigations. Case report A was admitted Albatool teaching maternity children Baqubah, Diyala, Iraq because joints infection. He second child consanguineous parents. His six-year-old sister normal. mother noticed early birth that her suffering high fever, he not responding pricking injections, never sweats intolerance warm weather. Examination revealed mental developmental delay, absent upper lower canine teeth, napkin face dermatitis intractable therapy, deep pus discharging ulcers heels. Radiology feet shows signs osteomyelitis. There history same disease two male cousins who died at age three five years respectively, overall clinical context warranted suspicion CIPA. Early this extremely very important treatment prevention complications. Conclusion: This clinician should suspect investigate CIPA when managing kids multiple harms, anhidrosis, insensitivity.
منابع مشابه
Congenital insensitivity to pain with anhidrosis: a case report.
We present a five-year-old girl with congenital insensitivity to pain with anhidrosis. A skeletal radiographic survey revealed several old fractures. Application of pilocarpine showed anhidrosis and nerve biopsy revealed a significant decrease in the number of myelinated and unmyelinated nerve fibres.
متن کاملCongenital Insensitivity to Pain with Anhidrosis (CIPA): A Case Report
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and the inability to sense of pain despite the fact that all other sensory modalities remain intact or minimally impaired. The patient also may exhibit the signs of self-mutilation, mental retardation and little or no perspiration. We present a 10 years old Iranian patient diagnosed wit...
متن کاملCongenital Insensitivity to Pain with Anhidrosis in an Iranian Patient
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
متن کاملA case of congenital insensitivity to pain with anhidrosis.
Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive disease which is also known as hereditary sensory and autonomic neuropathy type 4 (1). The prominent characteristics of the disease include fever due to anhidrosis, absence of sense of pain, painless ulcers in the structures inside the mouth and extremities, self-harm behavior, mild to severe mental r...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Practice and Research
سال: 2022
ISSN: ['2147-6470']
DOI: https://doi.org/10.21765/pprjournal.1182084