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. IMPLICATIONS: 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.     

Anaesthetic management of children with congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare sensory neuropathy, which affects patients' pain sensation and thermoregulation. There are several issues to consider when planning anaesthesia for those with this congenital disorder. Over a 20-year period, six patients with CIPA underwent 20 surgical procedures under general anaesthesia in our institution. We analysed our experience with these patients retrospectively. We conclude that patients with CIPA are able to undergo surgical procedures under general anaesthesia without major problems.     

Spinal anesthesia in a patient with congenital insensitivity to pain with anhidrosis

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, hereditary, autonomic recessive disorder. The inability to perceive pain results from loss of nociceptive afferents, while anhidrosis is caused by loss of innervation to the sweat glands. Insensitivity to pain and mental retardation lead to self-inflicted injuries, corneal lacerations, painless bony fractures, joint deformities with consequent chronic osteomyelitis, and septic arthritis. There are only a few reports on the anesthetic management for patients with CIPA. We describe the anesthetic management of a young woman with CIPA receiving bilateral arthrodesis of the ankle.     

The anaesthetic management of patients with congenital insensitivity to pain with anhidrosis

BACKGROUND: 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, characterized by inability to sweat, insensitivity to pain and recurrent episodes of hyperpyrexia. There are two Bedouin tribes in Israel with different mutations of the TrkA gene: one in the southern region and the other in the northern region. The Soroka University Medical Center is the referral centre for the entire southern region of Israel. One in 4500 anaesthesia cases involves a patient with CIPA. METHODS: We reviewed 40 anaesthesia records of 20 patients with CIPA for anaesthetic technique and incidence of side-effects. RESULTS: Sixteen patients developed complications in the immediate perioperative period: mild hypothermia in one patient and cardiovascular events in 15 others with one case of cardiac arrest. These complications were unrelated to the anaesthetic drug administered. There were no events of hyperthermia or postoperative nausea. CONCLUSIONS: Cardiovascular complications following anaesthesia are common in patients with the southern Israel variant of CIPA. Hyperthermia, previously recognized as a major concern in patients with congenital insensitivity to pain with anhydrous, was not seen in our patients. We conclude that cardiovascular involvement is frequently encountered in CIPA patients following anaesthesia and is the major concern in their anaesthetic management.     

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.     

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.     

先天性无痛无汗症患儿七氟醚吸入麻醉1例

先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)是一种以痛觉丧失、无汗、反复发热、自残、发育迟缓、不同程度的智力低下为主要临床表现的周围神经病,这是一种因编码酪氨酸激酶受体A(tyrosine kinase receptor A,TrkA)蛋白的神经营养因子酪氨酸激酶受体1型(neurotrophic tyrosine kinase receptor type 1,NTRK1)基因失活突变造成的常染色体隐性遗传病。文章报道1例痛觉丧失、无汗、智力低下,外伤后胫骨骨折的先天性无痛无汗症6岁男孩,该患儿仅用七氟醚吸入麻醉即得到了满意的麻醉效果,血流动力学未发生显著波动。     

Osteoarticular manifestations of congenital insensitivity to pain with anhydrosis

Summary. We report the case history of a boy who suffered from congenital insensitivity to pain with anhydrosis. We discuss the orthopaedic disorders occurring in 21 cases reported in the literature. Accepted: 18 October 1994     

Risk of aspiration during anesthesia in patients with congenital insensitivity to pain with anhidrosis: case reports and review of the literature

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease, characterized by episodes of unexplained fever, anhidrosis, pain insensitivity despite intact tactile perception, self-mutilating behavior, mental retardation, and autonomic nervous system (ANS) abnormalities. We present a case series of three patients with CIPA who underwent semielective orthopedic surgery under general anesthesia complicated by intraoperative regurgitation, and subsequent aspiration in two of the three cases. All three patients were nil per os (NPO) for at least 8 h prior to surgery. Two patients had their airways maintained with a laryngeal mask airway (LMA), and one patient had an endotracheal tube (ETT). The patients with an LMA suffered aspiration of gastric contents and subsequently developed hypoxic cardiac arrest. Although the patient with an ETT in situ regurgitated intraoperatively, the presence of the ETT prevented aspiration and any further potential complications. We review the perioperative complications typically observed in patients with CIPA and discuss the risks of using an LMA in these patients. We recommend that patients with CIPA always should be considered as having a “full stomach”, regardless of the duration of their NPO status, due to their coexisting ANS abnormalities. Therefore, rapid-sequence induction with an ETT should be utilized for the anesthetic management in every patient with CIPA.     

Orthopedic aspects of congenital insensitivity to pain

In an 11-year-old girl with congenital insensitivity to pain, diagnosis depended on three diagnostic features: pain sensation absent from birth; entire body affected; all other sensory modalities and deep tendon reflexes present. The cause of this disease is unknown. Other diseases to be considered when insensitivity to pain is present are diabetes, lues, and syringomyelia. Less common neurologic diseases are congenital sensory neuropathy with or without anhidrosis, familial dysautonomia (Riley-Day syndrome), and sensory radicular neuropathy. The three orthopedic manifestations of congenital insensitivity to pain are recurrent fractures, neuropathic (Charcot's) joints, and osteomyelitis. Management is based on proper appreciation of the disease. Prevention of complications is important. Treatment of fractures and osteomyelitis is straightforward. However, the treatment of neuropathic joints demands caution and is done best nonsurgically.     

先天性无痛无汗症并发习惯性髋关节脱位1例

先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)又称遗传性感觉和自主神经障碍(HSAN)Ⅳ型,是一种罕见病[1-2].本病属常染色体隐性遗传性疾病,首先由Dearbom(1932年)报道.国外报道了近40例,国内报道20余例,临床表现为感觉障碍,包括痛觉和温度觉、无汗、智力低下、发热、多发性骨折和感染[3].     

Spinal manifestations in a patient with congenital insensitivity to pain

Spinal manifestations in congenital insensitivity to pain are relatively uncommon and easily misdiagnosed. We report on a patient with absent protective pain sensation, who developed spinal neuropathic arthropathy. At age 11 years, he presented with a destructive lesion at the L1-L2 level, causing him tingling sensation in both lower limbs. He was treated with combined anteroposterior spinal fusion from T12 to L3 and had full recovery. Five years later, he presented with a long history of clicking in his low back, muscle weakness and paresthesia in both lower extremities during walking, and evidence of Charcot arthropathy at the L4-L5 level, resulting in junctional kyphosis and canal narrowing. Posterior spinal arthrodesis from L3 to the sacrum was performed, due to lack of patient and parental consent for combined anterior decompression/posterior fusion. The patient resumed normal muscle function and his previous level of activities. Spinal complications should be anticipated in this condition and create diagnostic and therapeutic dilemmas. However, surgical management can produce favorable clinical results.     

Orthopedic problems in children with congenital insensitivity to pain]

Three children with congenital insensitivity to pain are described. Self-injuries of the tongue and fingers occurred during dentition. At infancy and early childhood fever of unknown origin and/or pneumoniae were observed in all children. All of them also suffered from osteomyelitis of various bones treated with antibiotics and surgery. The tibia and metatarsals were involved in one case, the tibia, metatarsals and the femur in second child and the jaw plus metatarsals in the third case. In one child the hip has been dislocated twice after minor trauma, lumbar arthropathy, distal femoral epiphyseal fusion causing shortening of the extremity by 4.5 cm, osteochondritis dissecans of the medial femoral condyle, elbow deformity after displaced fracture of the lateral humeral condyle and post-traumatic cataract were observed.     

Anesthesia and patients with congenital hyposensitivity to pain

BACKGROUND: Congenital hyposensitivity to pain or hereditary sensory and autonomic neuropathy represents a variety of disorders characterized by decreased perception of nociception, loss of other modalities of sensation, and variable expression of autonomic dysfunction. Sensory loss, especially that of pain, is associated with self-mutilations that may require frequent operations. Little is known about the safety of anesthesia for these patients. METHODS: The authors performed a computerized search of the Mayo Clinic medical records database between January 1996 and November 2005 for patients with congenital hyposensitivity to pain and related disorders who underwent general anesthesia. Medical records were reviewed for demographics, anesthetic techniques and agents, use of opioids, and perioperative complications. In addition, the authors conducted a comprehensive review of the literature to summarize the current knowledge regarding anesthesia for patients with congenital hyposensitivity to pain, and compared it with the patients with hyposensitivity to pain identified at the Mayo Clinic. RESULTS: The authors identified seven patients with hereditary sensory and autonomic neuropathy II, IV, or V and undefined variants of congenital pain hyposensitivity who generated 17 anesthesia records: 12 for orthopedic operations, 3 for sural nerve biopsies, and 2 for ophthalmologic procedures. In all patients, standard doses of volatile agents were used during anesthesia. Small amounts of opioids were used during the course of eight operations. Most patients experienced mild hypothermia (lowest temperature 34.7 degrees C), and none experienced hyperthermia. All patients were hemodynamically stable during otherwise uneventful anesthesia. During recovery from anesthesia, opioids were given to only one patient, a single dose of 1 mg morphine. Even after major orthopedic operations, the patient did not require additional analgesia. CONCLUSIONS: The patients with profound congenital hyposensitivity to pain underwent anesthesia without any adverse events. The authors found that despite reduced pain perception, the requirements for volatile anesthetics were within the expected range for population with normal pain perception, but they did not require opioids postoperatively. Intraoperative mild hypothermia was easily managed by adjustment of environmental temperature.     

Neuropathic spinal arthropathy in congenital insensitivity to pain

Neuropathic arthropathy developed in the lumbar spine of a 28-year-old woman with congenital insensitivity to pain. Progressive spinal instability and destruction occurred at the L1-L2 interspace, with resultant kyphosis. Successful arthrodesis was obtained with staged posterior and anterior procedures.     

Congenital insensitivity to pain with anhidrosis. Report of a case and review of the literature

In a previous paper published in this journal, we reported two cases of "Congenital Sensory Neuropathy with Anhidrosis" with reference to the orthopedic complications (Theodorou et al., 1985). We now present a new typical case, under the currently used term: "Congenital Insensitivity to Pain with Anhidrosis" (CIPA) and a brief review of the literature on the incidence, etiology and problems arising in various systems. CIPA is an autosomal recessive form of sensory neuropathy manifesting with typical clinical features. Universal insensitivity to pain, anhidrosis or hypohidrosis, bouts of hyperpyrexia from very young age, self inflicted injuries, defective or absent lacrimation and mental retardation are specific diagnostic findings. Orthopedic, maxillofacial, dermatological and ophthalmologic complications are common. Counseling of the family and school personnel for the prevention of injuries is necessary. Early diagnosis is very important for the prevention and treatment of various complications. The etiology and pathogenesis of the condition is still unclear. The recent detection of a new gene, which encodes a receptor tyrosine kinase for nerve growth factor and lately of a specific point mutation associated with the gene inactivation11, may open new ways for the study and management of this disabling condition.