JuniorDr Blog

We often wonder how it must be blissful to live without the gnashing pangs of pain. Pain is a terrible feeling that we want to avoid at all cost.  Yet, would you give up this feeling that saves you in more ways than one?

Congenital Insensitivity to Pain and Anhidrosis

“Look Ma, I poked my eye” happily exclaims a girl with congenital insensitivity to pain and anhidrosis (CIPA). It is otherwise known as hereditary sensory and autonomic neuropathy type IV (HSAN IV). Living free from pain sounds enchanting but patients are not as invincible as they appear to be. In fact, they live a fairly difficult life. They are prone to injuries that would have been otherwise prevented by feeling pain.These kids playfully self-mutilate. Guardians have to be on a constant watch.

Pathophysiology

It is an autosomal-recessive disorder with a genetic mutation in the neurotrophic tyrosine receptor kinase type 1 (NTRK1) gene that prevents the formation of nerve cells that signals for pain, heat and cold to the brain. Mental retardation has been associated in some cases, as well as impaired corneal reflex. They tend to play a lot with their eyes, introducing foreign bodies which causes infections and corneal ulcerations. Anhidrosis, on the other hand, is caused by the loss of innervation of exocrine sweat glands.

Signs and Symptoms

The earliest manifestation is extreme hyperpyrexia caused by anhidrosis. Half of the CIPA population tend to get killed by overheating during episodes of high grade fever before reaching the age of 3. I used to tear up the sofa with my teeth when I was a child but these kids bite their tounge for past time. By the time they reach the age of 2, their taste buds are destroyed. It may be doubly difficult to feed them because they aren’t capable of feeling hunger pains either. Infections and scarring of the tounge, gums and lips are common. Bone fractures and dislocations are often encountered, which may lead to osteomyelitis.

Treatment

Naloxone may be useful in cases where there is overproduction of endorphins but this does not always work. Anesthesia still has to be administered on them during operations because their tactile sensation is not impaired.

Prognosis 

Infections, bleeding and hyperpyrexia are a few of the threats to these patient’s lives that  come without a warning. If they survive past the age of 3, many do not live past 25 years old. Now we know why pain is an essential element in our lives.

http://en.wikipedia.org/wiki/Congenital_insensitivity_to_pain

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256800

http://www.edoj.org.eg/vol003/00301/05/01.htm