Case series: Congenital insensitivity to pain and anhidrosis (original) (raw)
Related papers
Hereditary Sensory and Autonomic Neuropathy Type IV in 9 Year Old Boy: A Case Report
2016
Objective The Hereditary Sensory and Autonomic neuropathy (HSAN) is a rare group of neuropathies that affects the Sensory and Autonomic nervous system. The patients do not have the ability of sensing different sensations such as pain and temperature, which tends to lead to different injuries. In addition, due to autonomic involvement, the patients suffer from fluctuation in body temperature periodically and lack of precipitation. HSAN is divided into 5 types according to the age of onset, clinical features, and inheritance. Our case was a 9-yr old boy from cousin parents. He had some developmental delay and history of recurrent fever and convulsion in the first year of his life. Gradually, other symptoms added to patient’ feature such as multiple painless skin ulcers, tooth loss, destruction of toes and fingers. In electrodiagnostic study, we found decreased amplitude of sensory nerves, while the other studies were normal. Laboratory test and imaging studies were also normal. All cl...
A case of hereditary sensory autonomic neuropathy type IV
Annals of Indian Academy of Neurology, 2012
soles was dry, coarse and mildly hyperkeratotic. Neurological examination revealed a generalized absence of response to temperature and painful stimuli. Touch, position, and vibration senses were intact. Tendon reflexes and plantar responses were normal. There was no cranial nerve palsy except for absent corneal reflex. Tests for autonomic function were normal. On investigation, serum uric acid levels and the nerve conduction studies (motor and sensory) were normal. A bedside sweat test using pilocarpine showed the total absence of sweating. A full-thickness skin biopsy showed normal sweat glands. Sural nerve biopsy findings were consistent with hereditary sensory autonomic neuropathy [Figure 1]. IQ assessment using Binet-Kamat test showed a normal mental development for age (IQ=97). The child was lost to follow-up and presented to us 5 years later with extensive ulcers over upper limbs and neck [Figure 2]. There was substantial loss of tissue around the lips [Figure 3]. His left lower leg was amputated for non-resolving osteomyelitis 6 months back. The boy succumbed to fulminant sepsis with shock with profound DIC and massive upper GI bleed. Discussion Neuropathy in HSAN IV involves small-caliber (A-delta and C) nerve fibers which normally transmit nociceptive inputs along sensory nerves. Sensory testing of thermal and vibratory perception is abnormal and there is absence of sweating in response to sympathetic stimulation though autonomic perturbations are mild to absent. More than 37 different
Congenital insensitivity to pain with anhidrosis
Journal of Pediatric Neurosciences, 2012
Congenital insensitivity to pain with anhidrosis Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). This condition is also known as hereditary sensory and autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood. An inability to feel pain and temperature often leads to repeated severe injuries. Unintentional self-injury is common in people with CIPA, typically by biting the tongue, lips, or fingers, which may lead to spontaneous amputation of the affected area. In addition, people with CIPA heal slowly from skin and bone injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. Normally, sweating helps cool the body temperature. However, in people with CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures).
Hereditary insensitivity to pain with anhidrosis
Pediatric Neurology - PEDIAT NEUROL, 1998
Hereditary sensory neuropathy type IV is an autosomal-recessive disorder characterized by congenital insensitivity to pain and anhidrosis and resulting in recurrent hyperpyrexia, self-mutilation, recurrent infections, chronic osteomyelitis, bone and joint deformities, and limb amputations. Described is a child with signs as well as skin and nerve biopsy results compatible with this disease, emphasizing the importance of early diagnosis and appropriate medical and educational care to prevent complications.
Journal of the Neurological Sciences, 2016
Congenital insensitivity to pain and anhidrosis (CIPA) is one of the hereditary autonomic and sensory neuropathies. Typically presenting in infancy, it manifests as hyperpyrexia from defects in sweating (autonomic) and self-mutilating injuries from pain insensitivity (sensory). CIPA being rare in North America, diagnosis is often missed due to variable presentation. Subsequent management of its complications is therefore delayed. We report an unusual presentation in a 2-year-old girl with preexisting diagnosis of CIPA who was evaluated for bilateral upper extremity paresis of insidious onset. MRI revealed a mass compressing her cervical spine as the cause, and work up suggested immune dysfunction as possible etiology. To our knowledge, this complication has not been reported before in association with the disease. We introduce the disease by explaining the molecular pathology behind its presenting features. The neurological findings, documented in association with CIPA, are summarized and serve as a reference for the various presentations of this rare disorder. Since this disease is known to affect the immune system, immune defects in CIPA are discussed with recommendations for surveillance of patient's immune status.
Case Study of a Rare Genetic Disorder: Congenital Insensitivity to Pain With Anhidrosis
Cureus, 2021
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 dif...
A case report of congenital insensitivity to pain
2014
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and pain insensitivity despite the fact that all other sensory modalities remain intact or minimally impaired. Other clinical features are self-mutilated behaviour, mental retardation and anhydrosis. We present a case first time from Pakistan, 9- and 4-year-old brother and sister respectively, diagnosed as CIPA clinically with the above-mentioned clinical characteristics.
Congenital Insensitivity to Pain with Anhidrosis (CIPA): The First Reported Case in Bangladesh
Journal of current and advance medical research, 2023
Congenital insensitivity to pain with anhidrosis (CIPA) is also known as hereditary sensory and autonomic neuropathy type IV. It is an exceedingly rare autosomal recessive disease which occurs due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves. These fibers are required for transmission of pain and temperature sensation. This disorder is characterized by insensitivity to pain with intact tactile perception, anhidrosis, self mutilation, recurrent unexplained fever, auto amputation, mental retardation & autonomic nervous system abnormality from infancy. The clinical presentation of a 4-yearold boy with this rare disease is worth to describe, as the first case to be reported in Bangladesh. Rehabilitative treatments for prevention of disease complications and their progress should be given emphasis in every encounter.