Congenital Insensitivity to Pain with Anhidrosis: A Case Report

Résumé fourni par la source

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder that is characterized by insensitivity to pain, anhidrosis and mental retardation. Mutations in the neurotrophic tyrosine receptor kinase 1 gene are responsible for the disorder. A 3.5-year-old male born to healthy consanguineous Iranian parents presented with such symptoms as insensitivity to pain, anhidrosis, self-mutilation and intellectual disability. At the time of presentation he had multiple scars, especially on his hands, feet and knees resulting from previous trauma. It was ascertained that the wounds, caused by trauma and the self-mutilating behaviors of the patient, did not heal easily. CIPA was diagnosed based on clinical findings and information obtained from the family. Wound care was performed and the patient was started on a support program for cognitive function. In the absence of a cure for the condition, the family was informed about the measures to be taken and provided with genetic counseling, and the patient was followed up. The characteristics of the disorder should be well known to ensure its inclusion in differential diagnosis. As there is as yet no cure for this condition, the family of the patient should be informed about the disease and the measures to be taken, and provided with genetic counseling.

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