Congenital insensitivity to pain with anhidrosis cipa, or hereditary sensory and autonomic neuropathy type iv is a rare, autosomal recessive disease, related to a mutation in the trka gene. Pdf congenital insensitivity to pain with anhidrosis s. In patients with congenital insensitivity to pain with anhidrosis, oral lesions, tissue loss in the fingers, tongue and lips, wound site infection, acute and chronic osteomyelitis, finger amputations and joint abnormalities are frequently found because of self harm behavior 1. Congenital insensitivity to pain with anhidrosis cipa is a rare inherited disorder whose core clinical features consist of the inability to feel pain and temperature, and decreased or absent sweating anhidrosis 36. Mim 256800 is a rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis inability to sweat, absence of reaction to noxious stimuli, selfmutilating behavior and mental retardation 31, 32. Thus the name congenital, meaning present from birth.
The patient suffered from congenital insensitivity to pain without anhidrosis and presented with full blown sequelae of the condition in the form of oral selfmutilation leading to loss of teeth, tongue tip amputation, finger tips destruction, and lower limb wound infections. This gene provides instructions for making a protein in the neurotrophic tyrosine kinase receptor ntkr family. Congenital insensitivity to pain with anhidrosis is a rare form of hereditary sensory and autonomic neuropathy. Keywords anesthetic, children, congenital insensitivity, pain. Congenital insensitivity to pain without anhidrosis. It is characterized by impaired perception of pain and temperature. Congenital insensitivity to pain with anhidrosis cipa, also called hereditary sensory and autonomic neuropathy type iv, is an inherited disease that prevents the feeling of pain and decreased or absent sweating. Cipa is the fourth type of hereditary sensory and autonomic neuropathy, and is also known as hsan iv. Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose hisher feeling of pain. Renal amyloidosis following chronic osteomyelitis in a. Lack of pain sensation, painless injuries of the extremities and oral structures with selfmutilation, fever secondary to anhidrosis lack of sweating during hot weather, mental retardation, and loss of. Mutations in the trka ngf receptor gene in patients with. Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature, and prevents a person from sweating.
Congenital insensitivity to pain with anhidrosis cipa is a very rare genetic disorder of the peripheral nervous system characterized by recurrent episodes of unexplained fever, generalized anhidrosis, insensitivity to pain and temperature, and accompanied by selfmutilating behavior and mental retardation. Lack of sweating, hyperthermia, and infections of bones are main features of the disorder. Congenital insensitivity to pain with anhidrosis cipa, also called hereditary sensory and autonomic neuropathy type iv, is an extremely rare inherited disorder of the nervous system which prevents the sensation of pain, heat, cold, or any real nerverelated sensations including feeling the need to urinate. Congenital insensitivity to pain with anhidrosis cipa is a rare autosomal recessive disorder of the nervous system which prevents the feeling of pain or temperature, and prevents a person from sweating. Many would feel that it would be a great thing not to feel physical pain.
Congenital insensitivity to pain with anhidrosis symptoms and causes. Familiarity to this condition is important to avoid misdiagnosing it with leprosy and other peripheral nerve diseases. Pdf on may 1, 2012, edwin dias and others published congenital insensitivity to pain with anhidrosis find, read and cite all the research you need on. Here we present a case of congenital insensitivity to pain with anhidrosis hereditary sensory autonomic neuropathy type iv.
Congenital insensitivity to pain and anhydrosis cipa bioline. Anesthesia in a patient with congenital insensitivity to pain and. Congenital insensitivity to pain with anhidrosis request pdf. Click here pdf for details of pharmacologic tests, evaluations of sensory and autonomic function, and results of skin and nerve biopsy used for. There is also a neuronal loss in the sympathetic ganglia. Congenital insensitivity to pain genetics home reference. The signs and symptoms of cipa appear early, usually at birth or during infancy, but with careful medical attention, affected. Pdf congenital insensitivity to pain and anhidrosis. Congenital insensitivity to pain and anhidrosis sasnur ah, sasnur. Affected individuals are unable to feel pain in any part of their body. It is part of the hereditary sensory and autonomic neuropathy diseases hsan. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue.
Congenital insensitivity to pain with anhidrosis cipa also known as hereditary sensory and autonomic neuropathy type iv, is an inherited disease where there is an inability to feel pain and temperature, and decreased or absent sweating. Congenital insensitivity to pain is suggested in an infant or young child presenting with a history of multiple traumas e. Congenital insensitivity to pain with anhidrosis rafel. This condition is also known as hereditary sensory and autonomic neuropathy type iv. Type iv, congenital insensitivity to pain and anhidrosis. Pdf congenital insensitivity to pain with anhidrosis researchgate. Homozygous mutations in ntrk1 gene underlie congenital.
Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder presenting with loss of pain sensation, thermal sensation defects, and selfmutilating behavior. Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. Cipa is a rare disease with an autosomal recessive inheritance. Congenital insensitivity to pain and anhidrosis, cipa, is a rare, genetic condition in which the patient is unable to feel pain, differentiate between temperatures, sweat, and cry. Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which fdxvhvrqhwrorvhklv khuihholqjrisdlq 7khglvhdvhlvvxew\shirxurikhuhglwdu\vhqvru\dqg autonomic neuropathy hsan iv that results from ntrk1 gene defect. Essay on congenital insensitivity to pain with anhidrosis 814 words 4 pages. Congenital insensitivity to pain and anhidrosis cipa is one of the hereditary autonomic and sensory neuropathies. Mim 256800 is a rare autosomalrecessive disorder of the nervous system 15. In contrast to these channelopathies, the ntrk1associated hereditary autonomic and sensory neuropathy type 4 also termed congenital insensitivity. According to literature, the first step in the diagnosis of cipa syndrome is consideration of the clinical presentation based on the combination of three basic signs. Created using powtoon free sign up at youtube create animated videos and animated presentations for free. Mim 256800 is a rare autosomal recessive disorder characterized by recurrent episodes of unexplained fever, anhidrosis inability to sweat, absence of reaction to noxious stimuli, selfmutilating behavior and mental retardation 31,32. A case report of congenital insensitivity to pain and.
Mim 256800 is an autosomalrecessive disorder characterized by recurrent episodes of. Over time, this lack of pain awareness can lead to an accumulation of. Congenital insensitivity to pain with anhidrosis cipa, also called hereditary sensory and autonomic neuropathy type iv hsaniv, is an extremely rare autosomal recessive disease. Congenital insensitivity to pain with anhidrosis, or hsan type iv, is a rare autosomal recessive neuropathy characterized by recurrent episodic fever, anhidrosis absence of sweating, pain insensitivity, selfmutilating behavior, and mental retardation. A case of a male patient presenting with loss of pain and temperature sensation, lack of sweat, and mild mental retardation is described. Congenital insensitivity to pain with anhidrosis in. Congenital insensitivity to pain with anhidrosis cipa is a rare sensory neuropathy, which affects patients pain sensation and thermoregulation. Recurrent episodes of fever, no sweating, insensitivity to pain, and selfinjury are symptoms of cipa. Congenital insensitivity to pain with anhidrosis wikipedia. Typically presenting in infancy, it manifests as hyperpyrexia from defects in. For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see hsan1. Congenital insensitivity to pain and anhidrosis cipa and anesthesia abdulrahman abdullah al sulaiti, bsc, md ahmed abdelgawad msc, edra, edaic ali habib almoumen, mbbs hereditary sensory and autonomic neuropathy type iv, also known as congenital insensitivity to pain with anhidrosis cipa, is a rare hereditary syndrome. Congenital insensitivity to pain with anhidrosis is an autosomalrecessive disorder resulting from defective neural crest differentiation with loss of the firstorder afferent system, which is responsible for pain and temperature sensation. Congenital insensitivity to pain and anhidrosis cipa or hsan type iv is an extremely rare autosomal recessive disorder initially described by swanson in 1963 2.
Congenital insensitivity to pain and anhidrosis cipa or hereditary sensory and autonomic neuropathy type iv hsan iv is. Congenital insensitivity to pain and anhidrosis cipa and. Congenital insensitivity to pain with anhidrosis cipa has two characteristic features. The incidence of this disorder has been estimated to be 1 in 25, 000 population 3. In the present study, we recruited two consanguineous pedigree showing pain insensitivity symptoms from pakistan for clinical and molecular investigations. This inability causes the hyperpyrexia or high fever because the individual isnot able to give off heat through sweating. With a heat dissipation barrier in patients with congenital insensitivity to pain with anhidrosis, body temperature, endtidal carbon dioxide and bispectral index should be monitored. The phenotype of congenital insensitivity to pain due to.
Congenital insensitivity to pain with anhidrosis cipa. From birth, affected individuals never feel pain in any part of their body when injured. Congenital insensitivity to pain and anhidrosis cipa or hereditary sensory autonomic neuropathies type iv hsan type iv is an extremely rare autosomal recessive disorder initially described by swanson in 1963. Congenital insensitivity to pain with anhidrosis cipa or hereditary sensory and autonomic neuropathy type iv hsan iv is a rare, autosomalrecessive sensory neuropathy, first reported by nishida in 1951. Renal amyloidosis following chronic osteomyelitis in a patient with congenital insensitivity to pain and anhidrosis author. The patient presented a bilateral central corneal sterile ulcer, decreased corneal sensitivity, moderately altered corneal reflex and normal tearing response. Cipa, is a condition in which infants present with hyperthermia unrelated to the environment, anhidrosis. Characteristic features are indifference to painful stimuli, selfmutilating behavior, anhidrosis inability to sweat, corneal ulcers, and sometimes hypogammaglobulinemia and recurrent infections, skin changes, osteomyelitis, bone fractures, and cognitive impairment. Congenital insensitivity to pain and anhidrosis cipa is a rare disorder affecting autonomic nervous system, and therefore has been described as. Congenital insensitivity to pain and anhidrosis cipa, also known as hereditary sensory and autonomic neuropathy type iv, is an extremely rare syndrome1, 2. Congenital insensitivity to pain and anhidrosis \cipa\ is a rare form of hereditary sensory and autonomic neuropathy. Congenital insensitivity to pain with anhidrosis cipa also known as. Ntrk1 mutations cause defects in nerve growth factor signaling, leading to death of various nerve growth factordependent neurons nociceptive sensory and autonomic sympathetic neurons during the.
Congenital insensitivity to pain with anhidrosis hsan type iv. Congenital insensitivity to pain with anhidrosis in an iranian patient. The signs and symptoms of cipa usually appear at birth or during infancy. Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type iv, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia. Congenital insensitivity to pain and anhidrosis cipa or hereditary sensory and autonomic neuropathy type iv is an extremely rare syndrome.
Congenital insensitivity to pain with anhidrosis cipa, omim 256800, also called hereditary sensory autonomic neuropathy type iv hsan iv, is a rare autosomal recessive disease, which constitutes a subtype of the hereditary sensory and autonomic neuropathies hsan, also known as the hereditary sensory neuropathies. It is characterized by insensitivity to pain, inability to sweat, episodes of hyperpyrexia, and intellectual disability. Congenital insensitivity to pain with anhidrosis cipa is characterized by recurrent episodes of infections and unexplained fever. This pathology is caused by a genetic mutation in the ntrk1 gene, which encodes a tyrosine receptor trka for nerve growth. Quantitative studies and electron microscopy of the cutaneous branch of the radial nerve revealed almost complete absence of small myelinated and unmyelinated fibers and a disproportionate number of nerve fibers with a diameter of 610. Congenital insensitivity to pain with anhidrosis symptoms. Genetics home reference your guide to understanding genetic conditions congenital insensitivity to pain with anhidrosis congenital insensitivity to pain with anhidrosis cipa has two characteristic features. Pdf congenital insensitivity to pain with anhidrosis.
Congenital insensitivity to pain and anhidrosis cipa is hsan type iv. Congenital insensitivity to pain syndrome with anhidrosis. Congenital insensitivity to pain with anhidrosis genetic. Cipa congenital insensitivity to pain and anhidrosis. Congenital insensitivity to pain with anhidrosis cipa is a rare, hereditary, autonomic recessive disorder resulting from the mutation of the neurotrophic tyrosine receptor kinase 1 gene ntrk1. Congenital insensitivity to pain with anhidrosis by dane inouye congenital insensitivity to pain with anhidrosis cipa is a rare autosomal recessive disorder. Congenital insensitivity to pain with anhidrosis genedx. Congenital insensitivity to pain with anhydrosis cipa is a rare genetic disorder characterized by inability to feel pain and temperature, and decreased or absent sweating. Congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain.
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