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.

Harlequin syndrome: a case report / Síndrome de arlequín: reporte de un caso

El síndrome de Arlequín es una condición neurológica poco común, la mayoría de las veces benigna. Por lo general la mayor parte de los casos son de causa idiopática (aunque existen causas secundarias). Esta afección consiste en la aparición de eritema e hiperhidrosis facial unilateral desencadenado por el ejercicio, calor, emociones o estrés, la que se produce debido a una disfunción contralateral de la vía simpática vasodilatadora y sudomotora. Se presenta el caso de un paciente de sexo masculino de 49 años, que relata presentar un cuadro de 15 años de evolución caracterizado por la aparición de eritema y sudoración excesiva de la hemicara derecha, la cual termina abruptamente en la línea media de la cara, gatillado por el ejercicio y el calor en verano, mientras que la hemicara izquierda presenta anhidrosis sin eritema.

The Harlequin syndrome is a rare neurological condition, most of the time benign. In general, most cases are idiopathic (although there are secondary causes). This condition consists in the appearance of unilateral facial erythema and hyperhidrosis triggered by exercise, heat, emotions or stress, which occurs due to a contralateral dysfunction of the sympathetic vasodilator and sudomotor pathway. We present the case of a 49-year-old male patient, with no relevant morbid history, who reports a medical history of 15 years of evolution, characterized by the appearance of erythema and excessive sweating of the right side of his face, which ends abruptly in the middle line of the face, triggered by exercise and heat during the summer. While the left side presents anhidrosis without erythema.

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.

Síndrome de Horner: revision de la literatura / Horner´s Syndrome: literature review

Resumen El Síndrome de Horner (SH) es una condición provocada por un grupo heterogéneo de patologías. Estas tienen en común el daño de la vía simpática. La localización más común de la lesión es a nivel preganglionar, por trauma o cirugías en región cervical, torácica o ápex pulmonar. El diagnóstico es primordialmente clínico mediante la identificación de la triada de miosis, ptosis y anhidrosis. Se confirma con las pruebas para cocaína e hidroximetanfetamina. El tratamiento se lleva a cabo primero con agentes farmacológicos. Los que tienen disminución del campo visual por la ptosis o por razones cosméticas se llevan a tratamiento quirúrgico. En ese caso los abordajes operatorios recomendados para ptosis leve son el procedimiento de Fasanella-Servat, el avance de aponeurosis del elevador y en casos severos el cabestrillo frontal. El objetivo es hacer una revisión de los algoritmos diagnósticos y terapéuticos del SH para lograr un abordaje sistemático debido a las múltiples etiologías que posee.

Abstract Horner Syndrome is a condition caused by a heterogeneous group of pathologies. These have in common the damage of the sympathetic pathway. The most common location of the lesion is at the preganglional level, due to trauma or surgeries in the cervical, thoracic or pulmonary apex region. The diagnosis is primarily clinical by identifying the triad of myosis, ptosis and anhidrosis. It is confirmed with the cocaine and hydroxymethamphetamine tests. Treatment is first carried out with pharmacological agents. Those with diminished visual field due to ptosis or cosmetic reasons are undergoing surgical treatment. In this case, the recommended operative approaches for mild ptosis are the Fasanella-Servat procedure, the elevator aponeurosis advance and, in severe cases, the frontalis sling. The objective is to review the diagnostic and therapeutic algorithms of SH in order to achieve a systematic approach due to the multiple aetiologies it possesses.

Ross syndrome: a case report

Ross syndrome is a rare partial dysautonomic syndrome of unknown aetiology, characterized by segmental hypo/ anhidrosis associated with Holmes-Adie syndrome (tonic pupil and hypo/areflexia). The hypohydrosis or anhydrosis is patchy initially, later it becomes segmental or diffuse. This is due to affection of postganglionic cholinergic parasympathetic and sympathetic fibers involvement. There are a very few cases (approximately 50) have been reported in the literature since its original description. Author report a 22 years old male with classical features of Ross syndrome.

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.

Dental Management in a Patient with Congenital Insensitivity to Pain with Anhidrosis : A Case Report / 대한소아치과학회지

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare, autosomal recessive disorder; affected patients are characterized by inability to feel pain and to sweat over the entire body, as well as by mental retardation. Because, in the oral examination, no specific findings on soft or hard tissue may be found except possible lesions due to self-mutilation, early recognition and diagnosis are essential for these patients. Pediatric dentists must be aware of the clinical manifestations and treatment considerations related to uncontrolled body temperature, tactile hyperesthesia and lack of pain reflex. In this case report, dental management of CIPA was suggested by presenting a 6-year follow-up of young patient.

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.

Presentación de un caso: síndrome de claude bernard-horner post resección de higroma quístico / Presentation of a case: claude bernard-horner's syndrome post resection of cystic hygroma

El Higroma quístico es una malformación congénita que consiste en uno o más espacios linfáticos llenos de líquido, suelen reconocerse en recién nacidos, pero típicamente pueden ser visibles cuando aumentan de tamaño conforme al crecimiento del paciente. El Síndrome de Claude Bernard-Horner se caracteriza por una miosis, ptosis palpebral y anhidrosis en pacientes con afectación de la vía oculosimpatica, se considera una complicación neurológica iatrogénica infrecuente. Se presenta una paciente femenina de 4 años con diagnostico posnatal de higroma quístico cervical tras estudio patológico realizado, el cual fue extraído quirúrgicamente. Tres días después la paciente presenta ptosis del parpado superior izquierdo con presencia de miosis y disminución de la sudoración del mismo lado, sin alteraciones en la fuerza y movimiento del miembro superior Izquierdo.

Cystic hygroma is a congenital malformation consisting of one or more lymphatic spaces filled with fluid, usually recognized in newborns, but typically can be visible when they increase in size according to the patient's growth. The Claude Bernard-Horner Syndrome is characterized by miosis, palpebral ptosis and anhidrosis in patients with oculosympathetic pathway involvement, it is considered an infrequent iatrogenic neurological complication. We present a 4-year-old female patient with postnatal diagnosis of cervical cystic hygroma after a pathological study, which was surgically removed. Three days later, the patient presented ptosis of the left upper eyelid with the presence of miosis and decreased sweating on the same side, without alterations in the strength and movement of the left upper limb.

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.

Insensibilidad congénita al dolor con anhidrosis. Diagnóstico clínico, evolución y complicaciones: reporte de un caso / Congenital insensitivity to pain with anhidrosis. Clinical diagnosis, evolution and complications: case report

La insensibilidad congénita al dolor con anhidrosis es una enfermedad autosómica recesiva infrecuente, que se produce por mutaciones en el gen NTRK1 (neurotrophic tyrosine receptor kinase 1), localizado en el cromosoma 1q21-22, que codifica el dominio tirosinasa del receptor de alta afinidad del factor de crecimiento nervioso. Se caracteriza por anhidrosis, insensibilidad a los estímulos dolorosos y retraso mental. Dada su baja prevalencia y los pocos casos reportados, es importante conocer sus principales características para considerarlo entre los diagnósticos diferenciales en la práctica pediátrica. Realizamos la descripción del diagnóstico clínico, complicaciones, secuelas y tratamiento sintomático administrado en una niña de 3 años y 6 meses en el Hospital Asdrúbal de la Torre, Cotacachi, Ecuador.

The congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disease caused by mutations in NTRK1 gene (neurotrophic tyrosine kinase receptor 1) located in chromosome 1q21-22, encoding the tyrosinase domain receptor high affinity nerve growth factor. It is characterized by anhidrosis, insensitivity to painful stimuli and mental retardation. Given their low prevalence and the few reported cases, it is important to know its main features to be considered in the differential diagnosis in pediatric practice. We describe the clinical diagnosis, complications, sequelae and symptomatic treatment administered to a 3 years and 6 months old girl in the Hospital Asdrubal de la Torre, Cotacachi, Ecuador.

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...

A Case of Acquired Idiopathic Generalized Anhidrosis / 대한피부과학회지

Acquired idiopathic generalized anhidrosis (AIGA) is a very rare disease, and its pathogenesis is poorly understood. We here report on a 20-year-old man presenting with a history of inability to sweat, small wheals, and occasional heat intolerance since 3 months. On provocation test, there was no sweating over the entire surface of the body, excluding the palms and axillae. His medical history was unremarkable and laboratory examination findings were all normal. There was no familial history suggestive of neuroendocrine disease. Based on these findings, we diagnosed acquired idiopathic generalized anhidrosis. To our knowledge, this is the first case of AIGA in Korean dermatologic literature. Herein, we report a rare case of AIGA.

Idiopathic Pure Sudomotor Failure Presented With Generalized Anhidrosis

No abstract available.

Idiopathic Pure Sudomotor Failure Presented With Generalized Anhidrosis

No abstract available.

Prosthodontic management of anhidrotic ectodermal dysplasia.

Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

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.

Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain

Fabry disease is an X-linked lysosomal disease caused by deficiency of alpha-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent alpha-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.