A Case Report of Congenital Insensitivity to Pain with Anhidrosis / 罕见病研究

Congenital insensitivity to pain with anhidrosis (CIPA) is associated with Charcot arthropathy and is a rare clinical syndrome, with limited treatment options. Through a decade-long follow-up of a single case, we aim to provide new insights for clinicians regarding the choice of surgical strategies and postoperative complications. The diagnosed patient exhibited congenital insensitivity to pain and anhidrosis, accompanied by severe Charcot arthropathy affecting the spine. Multiple postoperative complications, including implant displacement, adjacent segment pathology, and pedicle screw loosening, occurred after surgical intervention, leading to five subsequent revision surgeries. Considering the limited experience in managing CIPA-related Charcot spinal arthropathy in the literature, surgical correction remains the preferred treatment. Among the 16 cases reviewed, common postoperative complications included implant displacement, adjacent segment pathology, and pedicle screw loosening. Based on current experience, we do not recommend extensive resection and reconstruction after removing the affected vertebral body, as this may increase the risk of implant displacement. Instead, a 360° long-segment fusion may help reduce the risk of adjacent segment degeneration. Additionally, we discuss potential reasons for revision surgery after Charcot spinal arthropathy surgery and perioperative management strategies for such cases. Meticulous care, appropriate rehabilitation exercises, and metabolic therapy for bone mineralization are crucial components of the treatment for this condition.

Perioperative nursing of a case of a chlid who is congenital insensitivity to pain with anhidrosis and lower lip bite defect repair / 中国实用护理杂志

Objective:To summarize the perioperative nursing points of a child with congenital insensitivity to pain with anhidrosis and lower lip bite defect repair.Methods:To summarize and analyze the perioperative nursing care of a child with congenital insensitivity to pain with anhidrosis and lower lip bite defect repair in September 2020 in Peking University School of Stomatology (Peking University Hospital of Stomatology).Results:The operation was successful. On the 7th day after operation, the child was discharged from the hospital after her stitches removed. The child was revisited one month after surgery. The wound of the child′s lip healed well without infection and bite.Conclusions:For this case, the wound infection should be prevented and to avoid the occurrence of re-bite. Taking active protective measures to prevent accidental injury and autotomy is the key to nursing care.

Manifestaciones clínicas de la insensibilidad congénita al dolor con anhidrosis / Clinicai manifestations of congenital Insensitivity to pain with anhidrosis

RESUMEN Introducción: La insensibilidad congénita al dolor con anhidrosis (HSAN IV o CIPA) es una enfermedad rara con sintomatologia multisistémica, que impacta el funcionamiento cognitivo, y afecta negativamente la calidad de vida los pacientes y sus familias. Se estima que la mayoría de los individuos que padecen esta enfermedad mueren antes de los tres años por las complicaciones que esta genera. Objetivo: Realizar una revisión de la sintomatologia clinica de la enfermedad y las alteraciones neurocognitivas reportadas en 145 casos de pacientes con insensibilidad congénita al dolor con anhidrosis reportados en la literatura cientifica entre 2000 y 2017. Desarrollo: La revisión permitió identificar los sintomas clínicos más frecuentes en los pacientes con insensibilidad congénita al dolor con anhidrosis IV: fiebres, anhidrosis, osteomielitis, fracturas, artropatias y necrosis avascular. Conclusiones: La insensibilidad congénita al dolor con anhidrosis como enfermedad multisistémica tiene implicaciones cognitivas en pacientes que la padecen; sin embargo, se desconoce el nivel de impacto de esta enfermedad en el comportamiento y las funciones superiores de los pacientes afectados.

ABSTRACT Introduction: The congenital insensitivity to pain with anhidrosis (HSAN IV) is a rare disease, which results in different with multisystem symptoms, impacting cognitive functions that affect negatively the quality of life not only in patients but also in relatives. It is estimated that most individuals suffering from this disease die before turning three years of age due to the complications that arise from this condition. Objective: Review the clinical symptomatology of this disease and the neurocognitive alterations that occurred in 145 cases of patients with HSAN IV reported in the scientific literature between 2000 and 2017. Findings: Te review allowed to identify the most frequent clinical symptoms in patients with HSAN IV: fever, anhidrosis, osteomyelitis, fractures, arthropathies and avascular necrosis. Conclusions: There is a scientific ignorance of the impact of HSAN IV on the behavior and superior functions in patients affected by this disease.

Congenital Insensitivity to Pain with Anhidrosis: Five-Year-Old Girl with a Neglected Distal Femur Fracture / 대한정형외과학회잡지

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disease that affects the sensory and autonomic nervous system. The patients do not have the ability to sense different sensations, such as pain, which tends to lead to different injuries. In addition, the patients suffer from fluctuations in body temperature due to autonomic involvement. The present case was a five-year-old girl with a neglected distal femur fracture. X-rays taken during the follow-up showed marked callus formation and pseudarthrosis of the distal femur. She had biting injuries of the tongue, auto-amputation of the fingers, some developmental delay and a history of recurrent fever with an unknown origin. The electrodiagnostic study was normal. The quantitative sudomotor axon reflex test revealed markedly reduced postganglionic sudomotor axonal responses at all sites recorded on the left. She was diagnosed with CIPA. As the initial presentation of CIPA involves the musculoskeletal system, orthopedic surgeons should have a high index of suspicion.

Funcionamiento Cognitivo Global y Conducta Adaptativa en dos Niñas con Neuropatía Sensitiva Autonómica Hereditaria Tipo IV / Global cognitive and adaptive functioning in two girls with hereditary sensory and autonomic neuropathy type IV

La neuropatía sensitiva autonómica hereditaria tipo IV (HSAN-IV) es una condición neurológica de origen genético extremadamente rara que puede cursar con discapacidad intelectual, sin embargo, hay escasas publicaciones sobre las características del funcionamiento cognitivo global y la conducta adaptativa de los afectados. En este estudio se describe la capacidad cognitiva global y el funcionamiento adaptativo de dos niñas de 12 y 14 años diagnosticadas con HSANIV, incluyendo una caracterización de los procesos de comprensión verbal, razonamiento perceptual, memoria de trabajo y velocidad de procesamiento. Las menores fueron evaluadas mediante la Escala de Inteligencia para niños de Wechsler cuarta edición (WISC-IV) encontrándose en ambos casos un bajo índice de comprensión verbal, una medida del desarrollo cognitivo alcanzado a través de la historia de aprendizaje de las niñas; así como un bajo índice de razonamiento perceptivo, indicador de su capacidad para adaptarse y afrontar situaciones nuevas de forma flexible. Esto se acompaña de dificultad en la manipulación de información en la memoria para la resolución de problemas y enlentecimiento en la velocidad de procesamiento de la información. Adicionalmente, se evaluó su funcionamiento adaptativo mediante el sistema de evaluación de la conducta adaptativa ABAS-II, el cual se caracterizó por fortalezas en habilidades comunicativas, uso de recursos comunitarios y vida en el hogar; con limitaciones en habilidades académicas y de autocuidado. En conclusión, la HSAN-IV es una condición que cursa con discapacidad intelectual con necesidades de apoyo variables en intensidad. En los casos estudiados se encontró discapacidad intelectual con necesidad de apoyo limitado, es decir, los apoyos se requieren de forma regular durante un periodo de tiempo corto pero definido.

Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a neurological condition of extremely rare genetic origin that may be associated with intellectual disability; however, there are few publications about the characteristics of global cognitive functioning and adaptive behaviour of these patients. In this study we describe the global cognitive function and the adaptive behavior of two girls aged 12 and 14 diagnosed with HSAN-IV, including a characterization of the processes of verbal comprehension, perceptual reasoning, working memory and processing speed. The children were assessed using the Wechsler Intelligence Scale for Children - Fourth Edition (WISC-IV), finding in both cases a low level of verbal comprehension, a measure of cognitive development achieved through the girls' learning history; as well as a low rate of perceptual reasoning, indicator of their ability to adapt and face new situations in a flexible way. This is accompanied by difficulty in manipulating information in the memory to solve problems and slow down the speed of information processing. Additionally, its adaptive functioning was evaluated through the Adaptive Behavior Assessment System ABAS-II, which was characterized by strengths in communication skills, use of community resources and life at home; with limitations in academic and self-care skills. In conclusion, HSAN-IV is a condition related with intellectual disability with varying support needs in intensity. In the cases studied, intellectual disability was found with limited need for support, that is, supports are required on a regular basis for a short but defined period.

Nursing of proximal femoral fracture in pediatric patients with congenital insensitivity to pain and anhidrosis / 现代临床护理

Objective To summarize the experience in pediatric nursing of children with congenital insensitivity to pain and anhidrosis (CIPA) combined with proximal femoral fracture.Methods Two CIPA children with proximal femoral fracture received good treatment of security,plaster casts/braces,body temperature and skin as well as guidance of function exercise and health care education.The nursing experience was summarized.Result After intensive nursing,all patients successfully tided over their perioperative period and discharged.Conclusions The security management,careful observation of skin and body temperature after plaster casts/braces fixation,are of great significance for the decreased complication.Function exercises are equally effective in CIPA children with proximal femoral fracture.

Congenital insensitivity to pain with anhidrosis in a family:2 cases report / 临床儿科杂志

Objective To report the clinical manifestation and gene mutation of congenital insensitivity to pain with anhidrosis (CIPA) in two patients from one family. Methods The data of clinical manifestation, laboratory examination, and family history of two patients were collected. The peripheral blood of patients and their parents were collected. Neurotrophic tyrosine kinase receptor type 1 (NTRK 1 ) gene was detected directly by Sanger method, the pathogenicity of the mutation in the gene was analyzed by bioinformatics. Results Both of patients were female and mainly suffered with reduplicated non-infectious fever, anhidrosis, insensitive to pain, and mental retardation. The proband had fracture many times after minor injury. The ninth exon of NTRK 1 genes in the proband and her younger sister were found to have heterozygous mutations, c. 851-33 T>A, as previously reported. Meanwhile, there was also found a new mutation, c. 1711 G>A (p.G 571 S), in thirteenth exon of NTRK 1 genes in these two patients. It was predicted to be a harmful mutation by bioinformatics and the mutation site is conservative. Their father and mother were found carrying the c. 851-33 T>A and c. 1711 G>A mutations respectively. Conclusion Both patients had typical clinical manifestations. And the newly discovered p.G 571 S mutation expands the mutation spectrum of NTRK 1 gene.

Neuropatía autonómica sensorial hereditaria / Hereditary sensory and autonomic neuropathy

La insensibilidad congénita al dolor es una patología infantil poco frecuente. Existen cinco diferentes tipos de neuropatía sensorial y autonómica descritas hasta la fecha, cada una de ellas con hallazgos clínicos diversos. A continuación se reporta el caso de un niño de 10 años, con el diagnóstico de neuropatía autonómica sensorial hereditaria tipo IV, condición que presenta una herencia autosómica recesiva. Esta patología se caracteriza por la pérdida de la sensibilidad al dolor y temperatura, anhidrosis, automutilación y retardo mental. La anhidrosis lleva a trastornos de la termorregulación, que pueden causar episodios de fiebre y la pérdida de sensibilidad, se asocia con fracturas y traumas articulares recurrentes...

Indiferencia congénita al dolor / Congenital indifference to pain

Introducción. En la fase aguda, el dolor ejerce un mecanismo natural de protección. No obstante, existen dos trastornos congénitos cuya característica principal es una baja o nula reactividad al trauma: la insensibilidad congénita al dolor y la indiferencia congénita al dolor. Esta última es una condición poco común en la que a pesar de no existir anormalidades neurológicas en las vías del dolor, el individuo carece de una respuesta emocional a la lesión tisular. Objetivos. Presentar el caso de una niña con indiferencia congénita al dolor y hacer revisión de la fisiopatología y una aproximación diagnóstica. Metodología y resultados. Presentación de caso clínico. Conclusiones. El diagnóstico de indiferencia congénita al dolor es básicamente un diagnóstico de exclusión y dado que aún no se conoce cura para este trastorno, la prevención, la educación y el tratamiento interdisciplinario son lo primordial en estas entidades.

Introduction. In the acute phase, pain exerts a natural protective mechanism, However, there are two congenital disorders, in which the main characteristic is a low or nule reactivity to trauma: congenital insensitivity to pain and congenital indifference to pain. The last one is an uncommon condition in which, while not having neurological abnormalities in the pain pathways, the individual lacks of an emotional response to tissue injury.Objectives. To show the case of a girl with congenital indifference to pain and to make a review of the pathophysiology and diagnostic approach. Methodology and results. Presentation of a clinical case. Conclusions. The diagnosis of congenital indifference to pain is basically a diagnosis by exclusión and since a cure for this disorder is not yet known, prevention, education and interdisciplinary treatment are the priority aspects in this entities.

Anesthetic management of patient with congenital insensitivity to pain with anhidrosis (CIPA) by using BIS monitor: A case report

Congenital insensitivity to pain with anhidrosis (CIPA, or hereditary sensory and autonomic neuropathy type IV) is a rare, autosomal recessive disease, is characterized by inability to sweat, insensitivity to pain, recurrent episodes of hyperpyrexia, self-mutilation and mental retardation. Because of lacking autonomic response to painful stimuli, it is difficult to determine adequate depth of anesthesia in patients with CIPA. We report an anesthetic experience for child with CIPA who had undergone an orthopedic operation. Anesthesia was induced by propofol and maintained by Sevoflurane with 50% nitrous oxide and anesthetic depth was monitored by using bispectral index (BIS). Throughout the operation, anesthesia was maintained with low end-tidal Sevoflurane concentrations (<1.5 vol%), BIS was within 28-62 and vital signs were stable. After operation, he did not remember anything about the surgery. The BIS monitor may be a useful tool to guide the adequate depth of anesthesia for the patient with CIPA.

Anesthetic Management for a Patient with Congenital Insensitivity to Pain with Anhidrosis (CIPA): A case report / 대한마취과학회지

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal-recessive disorder characterized by the clinical triad of indifference of pain, anhidrosis and heat intolerance.Because of their lack of autonomic response to noxious stimuli, the determination of adequate depth of anesthesia in the CIPA patient undergoing surgery is a major challenge.We experienced a patient with CIPA who had minor procedures three times under the general anesthesia, in which bispectral index (BIS) was maintained at 40-50 by adjusting sevoflurane concentrations with 50% nitrous oxide.The low end-tidal sevoflurane concentrations (<1.2 vol%) were required to keep the target BIS while vital signs remained stable throughout the surgery in each operation.BIS monitor may be a valuable tool to guide the depth of anesthesia in patients with CIPA.

Total Intravenous Anesthetic Management of a Child with Congenital Insensitivity to Pain with Anhidrosis : A case report / 대한마취과학회지

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary sensory and autonomic neuropathy. CIPA is characterized by inability to sweat, insensitivity to pain, self-mutilation, recurrent episodes of hyperpyrexia, mental retardation, and autonomic nervous system abnormality. Patients with CIPA may undergo surgery because of susceptibility to trauma, bony fracture and osteomyelitis due to insensitivity to pain. We report a child who had undergone anesthesia with total intravenous anesthesia. The anesthetic management of this condition is discussed.

A Case of Pressure Sore in Congenital Insensitivity to Pain with Anhidrosis

PURPOSE: Congenital insensitivity to pain with anhidrosis(CIPA) is a rare form of autosomal recessive peripheral sensory neuropathy. Patients with CIPA show loss of pain sensation, which leads to corneal ulcers and opacities, self-mutilation of the tongue and fingertips, as well as fractures with subsequent joint deformities and chronic osteomyelitis. The purpose of this report is to highlight the fact that pressure sores also are a potential complication of CIPA. METHODS: This case report describes a patient presenting with pressure sores resulting from CIPA. A 5-year-old boy was referred to our department for the treatment of a 5x5cm sacral pressure sore as a result of a hip spica cast applied for the treatment of a left hip joint dislocation. He had a history suggesting CIPA such as multiple bony fractures, mental retardation, recurrent hyperpyrexia, anhidrosis, and clubbing fingers due to oral mutilation. A microscopic examination of the sural nerve showed mainly large myelinated fibers, a few small myelinated fibers and an almost complete loss of unmyelinated fibers. After wound preparation for two weeks, the exposed bone was covered with two local advancement flaps. RESULTS: Two weeks later, complete wound healing was achieved. A 16-month follow-up showed no recurrence. However, the patient presented with a new pressure sore on the left knee due to orthosis for the treatment of the left hip joint dislocation. CONCLUSION: The early diagnosis of CIPA and special care of pressure sores are important for preventing and treating pressure sores resulting from CIPA.

Anesthetic Management in a Patient with Congenital Insensitivity to Pain with Anhidrosis: A case report / 대한마취과학회지

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disease, which affects a patient's pain sensation and thermoregulation. There are several anesthetic considerations for those with this disorder. We anesthetized a patient with CIPA for an orthopedic operation by volatile induction and maintenance with sevoflurane. We discuss a safe anesthetic management for patients with CIPA.

Congenital Insensitivity to Pain with Anhidrosis: Follow-up of 1 case

Congenital insensitivity to pain with anhidrosis (CIPA: a hereditary sensory and autonomic neuropathy, HSAN IV) is a rare disease characterized by the self-mutilation, bone fracture, multiple scars, osteomyelitis, joint deformities and anhidrosis. The pathophysiologic mechanism remains unknown. This is the report of a twelve years old boy who had been diagnosed as the CIPA at his age of five. Loss of unmyelinated and small myelinated nerve fibers have been noted in an abdominal skin biopsy. On follow up studies, no significant changes were noted in the clinical manifestations and in the findings of laboratory, radiologic and electrophysiologic studies when compared to the initial studies except for the minimally progressed neuropathic ankle joints. Long term follow up study including the sequential electrophysiologic examination and biopsy of nerve and muscle might be necessary to establish the natural course of the disease. Prevention of the injury should be emphasized for the good prognosis.

A Case of Congenital Insensitivity to Pain with Anhidrosis

Congenital insensitivity to pain with anhidrosies (CIPA) is one of the exceedingly rare hereditary sensory autonomic neuropathies (HSAN). There are five types of HSAN according to hereditary transmission, natural history, clinical manifestations, and pathologic findings. The CIPA corresponds to type IV and is characterized by episodes of recurrent fever with generalized anhidrosis, insensitivity to pain and temperature with self-multilation, and mental retardation. We report a 14 month old girl with the clinical symptoms and neuropathological findings of CIPA without family history. She presented with episodes of recurrent fever and self-mutilation of her tongue. Clinical, laboratory and pathologic aspects of this patient are discussed along with review of the literature.