Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis

Abstract

A rare autosomal recessive disorder, congenital insensitivity to pain with anhidrosis, is characterised by the congenital lack of pain sensation. Other characteristic symptoms include no sweating, recurrent episodes of hyperpyrexia, retardation of mental abilities and self-mutilating behaviour. Herein, we present a case of a one-year-old male child who initially presented with self-bites on the tongue and then multiple fractures with no report of pain or crying, which initially indicated carelessness of parents. Based on further in-depth assessment indicating a family history of similar weak bones and no pain, the paediatric team conducted investigations along with genetic tests. The child was diagnosed with congenital insensitivity to pain with anhidrosis. Another sibling born later also had the same disorder. Both the children developed eczema, which was difficult to cure due to constant scratching by children as they did not feel any pain. Follow-up studies indicated a slight difficulty in learning abilities and delay in the achievement of milestones. This case report indicates the need for rigorous investigations in such cases to understand the aetiology and appropriate counselling of parents for the utmost care of the child.

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

“…Absence of pain sensation seen in all the patients leading to painless ulcers of mouth structures and extremities with unawareness of injuries produced by trauma or by selfmutilation so fingers and toes infection, scarring of lips and tongue are commonly detected (17,(22)(23)(24)(25). Selfharm behavior and mild mental retardation present in our patient which had been treated as developmental delay as reported in other literatures (22)(23)(24) .There is skin changes like skin dryness which presents as keratoderma in palmo-plantaris in the advanced state as reported by Daneshjou et al (9) The child had eczema, which was difficult to treat which is reported in other literitures (20,22). Chronic bone infections (osteomyelitis) as our patient suffered ,due to delayed healing as seen in other reports (19,(22)(23)(24)(25)(26).…”

“…Hypotonia improves with growth. (1,3,(19)(20)(21)(22)(23)(24) Pain perception is considerably reduced and autonomic nervous system functions are lost but the pressure and touch sensations are preserved which also causes poor healing of wounds and fractures with a tendency for chronic osteomyelitis and Charcot joints development. (17,(24)(25)(26).…”

Role of Genetics in Anesthesiology

“…It is a disorder of functional mutations in TKRA acting on the neurotrophic receptor tyrosine kinase type 1 and the receptor on the nNerve Growth Factor (NGF), causes the NGF to be unable to bind to Neurotrophic Receptor Tyrosine Kinase 1 (NTRK1) resulting in decreased TKRA signaling and death in specific nerves. 22 process can occur at the stage of embryonic formation, causing insensitivity to pain and disorders of the autonomic nervous system. There are case reports in China showing that often, there is an increase in temperature during surgery, an increase in blood pressure, and bradycardia due to the influence of autonomic dysfunction; this can last for 6 hours after surgery.…”