Congenital Insensitivity To Pain And Anhidrosis Research Articles

Congenital Insensitivity to Pain and Anhidrosis: A painful experience by a painless child

A three-year-old boy with congenital insensitivity to pain and anhidrosis (CIPA) was first presented with transphyseal separation of distal left humerus. Surgical treatment with closed reduction and k-wiring of transphyseal separation of distal humerus resulted in devastating surgical site infection and osteomyelitis. Multiple surgical debridement and application of external fixator to eliminate infection were futile. At the age of four years, he refused to bear weight as a result of left hip dislocation. Closed reduction and spica cast was unsuccessful, resulting in recurrent left hip dislocation. He has since not been able to walk. At the age of five years, the right hip was dislocated followed by ipsilateral subtrochanteric femur fracture. Appropriate treatments such as hip spica and titanium elastic nail were not possible due to extensive bruising and skin ulceration over the right thigh. This child ended up with a functionless left upper limb, bilateral hip dislocation and malunited right femur fracture. Conservative treatment and watchful neglect might be the ideal treatment for patients with CIPA.

Two Case Reports of Hereditary Sensory Autonomic Neuropathy Type IV

Hereditary Sensory Autonomic Neuropathy type IV (HSAN-IV), previously known as congenital insensitivity to pain and anhidrosis (CIPA), is an uncommon condition that presents in infancy with repeated episodes of fever, loss of pain sensations and self-mutilation. We are reporting two patients from two different families. Both patients had history of recurrent fever, anhidrosis, and pain insensitivity and self-mutilation behavior. Both had delayed motor developmental milestones with cognitive impairment. Clinical diagnosis of HSAN type IV was made on the basis of history, clinical examination and excluding other possible causes. Diagnosis of this rare disease is commonly delayed and patients ultimately develop complications. As there is no definitive treatment, these patients and their families should receive proper education and counselling for rehabilitation

Important Aspects of Anesthetic Management of a Patient with Hereditary Sensorial and Autonomic Neuropathy Type 4: A Case Report

Hereditary Sensorial Autonomic Neur opathy (HSAN) type IV or congenital insensitivity to pain and anhidrosis (CIPA) is a rare congenital disorder characterized by recurrences of unexplained fever, extensive anhidrosis, insensitivity to pain, hypotonia and mental retardation in some cases. These patients develop corneal scarring, teeth eruptions, multiple fractures, osteomyelitis, buccal and lower limb wounds,injuries of finger tips so they undergo surgery. In this paper we report a patient with HSAN-IV, who developed tibia fracture and undergone successful operation under monitored anesthesia care. A 7 year old patient with HSAN-IV, admitted with left tibia fracture, obviously painless. He was operated under monitored anesthesia care without any complications and discharged home after a night follow-up. No anesthetic or analgesic drugs had been used for the surgery. Anesthetic considerations for the management of these patients are adequate perioperative sedation to reduce tactile hyperesthesia and excitement, close monitoring of cardiac rhythm and blood pressure, monitoring of body temperature and observation of nausea and vomiting.

Congenital insensitivity to pain and anhidrosis: Case report and review of findings along neuro-immune axis in the disorder

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.

Congenital Insensitivity to Pain and Anhidrosis.

Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy has five different clinical subtypes. Congenital insensitivity to pain and anhidrosis (CIPA) is HSAN type IV. CIPA is a rare disease with an autosomal recessive inheritance. Recurrent episodes of fever, no sweating, insensitivity to pain, and self-injury are symptoms of CIPA. In addition, most patients suffering from CIPA experience mental retardation [1]. CIPA has been reported to occur with a genetic mutation of the neurotrophic tyrosine kinase 1 (NTRK1) gene [2]. This gene is encoded in the tyrosine kinase receptor, which is responsible for nerve growth factor. Thus, the signals for pain, heat, and cold cannot be transmitted to the brain. A previous study reported that approximately 20% of patients with CIPA die due to hyperpraxia before the age of 3 years [3]. Here, we report on a 33-month-old female with CIPA who presented with a pathognomonic clinical feature. This 33-month-old female child visited our department. Both her hands were crusted, with yellowish discharge, swelling, redness, and heating sensation on her right index finger (Fig. 1). On the X-ray, the distal phalanx of the right index finger had disappeared and the distal phalanx of the contralateral index finger was destructed (Fig. 2). The patient was diagnosed with cellulitis and osteomyelitis. She sucked and bit her fingers even though her fingers had a large number of open wounds. Therefore, we applied an elastic bandage on both of her hands in order to stop the sucking. Antibiotic treatment was also administered. During follow-up, swelling was observed on the left dorsum of the foot with no pain. She was diagnosed with a fracture of the first metatarsal bone (Fig. 3). She visited the orthopedic surgery department, and a splint was applied. Two days later, she was transferred to our department because of a splint sore. At this time, we realized that she could not feel the pain. She did not sweat easily and therefore had recurrent fever and did not wear clothes well for fever control. She had repeated oral ulcers and injuries to the hands and feet, such as contact burns. The Sequenced Language Scale for Infants showed delayed mental age at 13 months and low IQ at 66 points. Fig. 1 (A) Right hand. On the right index finger, an erythematous swelling was observed. There was yellowish discharge and a heating sensation. Further, multiple crusts and scars were observed. (B) Left hand. On the left hand, multiple crusts and scars were ... Fig. 2 X-ray of the right-hand oblique view. Distal phalangeal bone of the right index finger had disappeared. Fig. 3 X-ray of left foot. Fracture of the first metatarsal bone was observed. Because of the elastic bandage, the patient was no longer able to suck and bite her fingers. Thereafter, the symptoms (yellowish discharge, swelling, redness, and heating sensation) were relieved. The patient was discharged after a total hospital stay of 16 days. A weak steroid ointment was applied on her fingers. This ointment has a bitter taste; thus, the patient's sucking behavior decreased. The fracture of the first metatarsal bone healed with union achieved by maintaining the splint in place. The sore also healed with the dressing. We recommended nerve biopsy to confirm the diagnosis; however, the patient's parents did not give their consent for the procedure. CIPA is a rare disease with a short life expectancy. It is a hereditary disorder, but it could present with sporadic occurrence [4]. Specific treatment of CIPA is not known. Nevertheless, proper training is needed for prevention of injury. Patients suffering from CIPA usually visit the pediatrics department complaining of high fever. However, they may also visit a plastic surgeon due to recurrent wounds on the hands and feet. If the plastic surgeon is aware of CIPA, proper management could be administered in order to extend the patient's life expectancy.

Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis.

Introduction. Congenital insensitivity to pain and anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is an extremely rare syndrome. Three clinical findings define the syndrome: insensitivity to pain, impossibility to sweat, and mental retardation. This pathology is caused by a genetic mutation in the NTRK1 gene, which encodes a tyrosine receptor (TrkA) for nerve growth factor (NGF). Methods. The consultation of a child female in our center with CIPA and a tibia fracture in pseudoarthrosis encouraged us to carefully review literature and examine the therapeutic possibilities. A thorough review of literature published in Pubmed was done about CIPA and other connected medical issues mentioned in the paper. Conclusions. The therapeutic approach of CIPA remains unclear. The preventive approach remains the only possible treatment of CIPA. We propose two new important concepts in the therapeutic approach for these patients: (1) early surgical treatment for long bone fractures to prevent pseudoarthrosis and to allow early weight bearing, decreasing the risk of further osteopenia, and (2) bisphosphonates to avoid the progression of osteopenia and to reduce the number of consecutive fractures.

Generalized Anhidrosis: A Rare Dermatological Condition

Anhidrosis is the inability of the body to produce and /or deliver eccrine sweat to the skin surface in response to an appropriate stimulus or environment. It may be due to changes in the eccrine sweat gland, alterations in the nervous pathway or due to metabolic, endocrine or systemic disease. Purely psychogenic anhidrosis is also known. Occasionally it may not be possible to identify the cause. It may be localized, generalized, partial or complete. Extensive anhidrosis may impair heat regulation and produce heat exhaustion. The pathogenesis and underlying lesion of acquired idiopathic generalized anhidrosis (AIGA) are apparently heterogeneous. Acquired idiopathic generalized anhidrosis (AIGA) is a rare disorder in which systemic anhidrosis occurs in the absence of any causative skin, metabolic or neurological disorder. Congenital insensitivity to pain and anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type III is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia. mental retardation, and self-mutilating behavior. It is due to mutations in the neurotrophic lyrosine receptor kinase I (NTRK1) gene in chromosome. DOI: http://dx.doi.org/10.3329/bmj.v41i3.18962 Bangladesh Medical Journal 2012 Vol.41(3): 57-58

Renal Amyloidosis Following Chronic Osteomyelitis in a Patient with Congenital Insensitivity to Pain and Anhidrosis

Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual disability. Self mutilating behaviors lead to accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis. In pediatrics, amyloidosis usually occurs secondary to chronic inflammatory diseases. The coexistence of amyloidosis and CIPA has not previously been reported in literature. A CIPA case complicated with nephrotic syndrome and renal amyloidosis following chronic osteomyelitis is presented here. This report emphasizes the importance of close follow-up of patients by urine analysis for the risk of developing amyloidosis particularly in the presence of chronic infections.

Congenital insensitivity to pain and anhidrosis

Congenital insensitivity to pain and anhidrosis (CIPA) is a rare reported entity characterised by disturbance in the pain and temperature perception due to involvement of the autonomic and sensory nervous system. It is an autosomal recessive trait with several defects of the gene NTRK1 coding for the neurotrophic tyrosine kinase — a nerve growth factor receptor on chromosome 1q21-q22. Traumatic fractures are common and, because of lack of pain, may go unrecognised for prolonged periods, resulting in nonunion or pseudoarthrosis. A Charcot joint may be the end result. Treatment complications are very common in these patients and range from infection to wound breakdown to failure of fixation. We report here a rare case of CIPA in a 9-year-old girl and her younger male sibling with generalised absence of pain, anhidrosis and its orthopaedic implications.

Anesthesia in a Patient With Congenital Insensitivity to Pain and Anhidrosis

Congenital insensitivity to pain and Anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN IV) is a rare autosomal recessive neuropathy of the group of hereditary sensory and autonomic neuropathies (HSAN) characterized by insensitivity to pain, anhidrosis, and mental retardation. Since it is a rare condition, reports on the anesthetic conduct in patients with CIPA are not easily found in the literature. The objective of this report was to present the anesthetic conduct in a patient with CIPA undergoing left ankle arthrodesis with placement of an implant, and to discuss the characteristics of this disorder that concern anesthesiologists the most. A female patient with a history of CIPA was admitted for left ankle arthrodesis due to Charcot arthropathy. In the operating room, the patient was monitored with an electrocardiograph, bispectral index, 95% SEF, non-invasive blood pressure, and peripheral hemoglobin saturation; she was pre-medicated with midazolam and underwent intravenous anesthesia with propofol and cisatracurium. The administration of analgesics was not necessary. After tracheal intubation, monitoring of end-expiratory pressure of carbon dioxide and esophageal temperature were added. The patient did not develop postoperative complications. She was discharged from the hospital on the second postoperative day. Although there is insensitivity to pain, some patients present tactile hyperesthesia that can cause unpleasant feelings during surgical manipulation. Despite reports in the literature of patients undergoing neuroaxis blocks, and even procedures without anesthesia, intravenous anesthesia, which provided adequate conditions for the anesthetic-surgical procedure was used in this case.

Case series: Congenital insensitivity to pain and anhidrosis

Absence of pain sensation can have many etiological factors, most of which are acquired. A few congenital syndromes have been described with different clinical presentations.[1] Congenital insensitivity to pain and anhidrosis (CIPA) has a well-established genetic defect and clinical behaviour.[2] We present 2 such cases.

Use of BIS monitor in a child with congenital insensitivity to pain with anhidrosis

We describe a case of a 14-year-old boy with congenital insensitivity to pain and anhidrosis (CIPA) who underwent tarsal tunnel release for tarsal tunnel syndrome. Because of abnormal pain perception, the patient's response to normally painful surgical stimuli is severely impaired and not adequately reflected in a corresponding rise in blood pressure or heart rate. This lack of autonomic feedback to pain stimuli may make it more difficult to assess whether anesthetic depth is adequate to prevent intraoperative awareness and thus to safely conduct anesthesia, especially if muscle paralysis is required for surgical indications. We describe for the first time the use of processed EEG monitoring with a BIS A-2000 monitor to gauge anesthetic depth in a patient with CIPA. Initial forehead bispectral index (BIS) values prior to induction were normal (98) and then ranged between 23 and 79 during the whole surgical procedure. Propofol and lidocaine were used for induction and deep extubation; isoflurane was used as the sole anesthetic for maintenance with concentrations ranging from 0.21% to 0.92% to maintain a target BIS of 40-60. Volatile anesthetic requirements remained low throughout the procedure and no narcotics were necessary during surgery. The BIS monitor served as an adequate tool to help avoid excessive use of volatile anesthetic while assuring a processed EEG consistent with unconsciousness and amnesia. After the patient had recovered and was oriented to place and time in the recovery room, he was asked whether he remembered anything about the surgery and the presence of a breathing tube in his mouth. He denied any recall of such events.

A Novel Lymphocyte Signaling Defect: trk A Mutation in the Syndrome of Congenital Insensitivity to Pain and Anhidrosis (CIPA)

Congenital insensitivity to pain with anhidrosis is a syndrome characterized by loss of pain and sensation. The condition frequently evolves into deep wounds and prolonged healing times. Anhidrosis is another prominent component of the disorder. Often associated with recurrent episodes of unexplained fever, it can result in patient mortality. Recent investigations point to Trk A, the high affinity receptor for nerve growth factor (NGF), as a candidate for the site of the mutation that causes the disorder. Functional NGF receptors, such as Trk A and the Trk family of tyrosine kinases, are essential for NGF signaling of human lymphocytes. In this study, we demonstrated that the presence of a trk A mutation in patient B cells results in a novel lymphocyte signaling defect. In these B cells, NGF failed to induce Trk A phosphorylation, cytoskeleton assembly, or MAP kinase activation. These abnormalities may explain some of the clinical features of the disease.

Anesthesia for patients with congenital insensitivity to pain and anhidrosis: a questionnaire study in Japan.

We investigated the anesthetic management of patients with congenital insensitivity to pain and anhidrosis (CIPA) in Japan. CIPA is a rare inherited disease characterized by a lack of pain sensation and thermoregulation. Although lacking pain sensation, some patients do have tactile hyperesthesia. Thus, anesthetics are a necessity during operations. We also determined that because patients with CIPA have problems with thermoregulation, temperature management is a concern during the perioperative period and sufficient sedation is necessary to avoid accidental fractures. Additionally, it was found that the use of muscle relaxants does not present a problem, malignant hyperthermia is not associated with CIPA, and that the possibility of abnormalities in the autonomic nervous system must be taken into consideration. Therefore, patients with CIPA can be safely managed with anesthesia. We investigated the anesthetic management of patients with congenital insensitivity to pain and anhidrosis. We clarified the following three important points: anesthesia is necessary, temperature management must be maintained, and there must be sufficient perioperative sedation in the anesthetic management of patients with congenital insensitivity to pain and anhidrosis.