Painless: a case of congenital insensitivity to pain in a 5-
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Hereditary sensory and autonomic neuropathy (HSAN) is a group of genetic disorders involving varying sensory and autonomic dysfunction. Several genetic disorders are known to be associated with congenital insensitivity to pain (CIP), a term often used to describe an impaired ability to perceive the type, intensity and quality of noxious stimuli.

A 5-year-old male living in a rural area in the Middle East visited with the chief complaint of hand-burning by a heater, but showing no signs of pain. By the age of 6 months, the mother noticed her child being injured by a burn without crying. Similarly, the child had shown no signs of distress when he lost four of his upper teeth and dislocated his left hip.

On general examination, the boy measured 110 cm and weighed 18 kg, with a head circumference of 49 cm. He had normal gait and posture and was conscious, alert and oriented with no fever. He presented multiple scars on his hands, feet and both knee joints due to previous unintentional trauma. Misalignment of his left big toe had been caused by a previous fracture. Swelling of both feet and ankle joints had appeared after left hip joint dislocation at 3 years.

The patient had normal developmental milestones for his age but suffered from stress incontinence and was still wearing a diaper. Corneal reflexes were absent. The child did not react to pinprick or hot bodies. The family had not noticed sweating with physical activity, or reaction to odour. The child did not react to the salty and spice test nor to hot and cold drinks. The rest of clinical examination was normal. And infectious disease is ruled out.

Doctors treated the child’s injuries, ensured rehabilitation and provided mental health support to him and his family, mostly using support techniques developed by the Japanese organization ‘Tomorrow’, which focus on daily life techniques to keep children safe at home and in the outside environment.

There is no single gold standard treatment available for this condition. Reports suggest naloxone and naltrexone can be used to reverse the analgesia. Therapeutic options are restricted to treatment of symptoms and protection from self-mutilation, fractures and wound infections, which may lead to amputation. Such limited treatment options imply potentially catastrophic consequences of the natural pathologic evolution of the disease. The treatment and care for patients with HSAN types IV and V require a wide range of knowledge and experience, and a multidisciplinary team approach.

The sensation of pain is a precursor for a large variety of pathological conditions, but its absence for any reason may lead to potentially life-threatening situations. For this reason, it is important that the medical world develop strategies to support affected patients and their families with education and care guidelines.

Source: https://academic.oup.com/omcr/article/2020/7/omaa046/5875463?searchresult=1
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