Manifestaciones clínicas y complicaciones de la Neuropatía Autonómica y Sensorial Hereditaria Tipo II / Clinical manifestations and complications of Hereditary Sensory and Autonomic Neuropathy Type II / Manifestações clínicas e complicações da Neuropatia Autonômica e Sensorial Hereditária Tipo II

Resumen La percepción del dolor es una respuesta adaptativa ante la presencia de eventos dañinos y potencialmente fatales. La Insensibilidad Congénita al Dolor, Neuropatía Autonómica y Sensorial Hereditaria Tipo II, o Síndrome de Morvan de causa desconocida, es una afección en la que se produce una pérdida de la discriminación de las señales dolorosas, así como de la respuesta emocional-afectiva. Debido a esto, la persona afectada no evade los estímulos dolorosos y, en consecuencia, puede infligirse daño a sí mismo. Incluso, durante el tratamiento de dichas lesiones pueden producir complicaciones graves como se describe en el desarrollo del presente caso clínico. Este síndrome es muy raro, de ahí la importancia de dar a conocer las complicaciones que pueden ocurrir con el fin de que la comunidad médica detecte a tiempo a este tipo de pacientes. Este reporte de caso muestra el seguimiento durante diez años de un paciente femenino con diagnóstico de Neuropatía Autonómica y Sensorial Hereditaria Tipo II. La paciente tuvo ingresos repetidos en los servicios de salud por procesos infecciosos en la cavidad bucal que involucró a múltiples órganos dentales, evolucionando a osteomielitis, por lo que tuvo que recurrirse a la mandibulectomía, incluso después de que se sometió a varios tratamientos farmacológicos. A pesar de los esfuerzos por mantener a la paciente con la mejor calidad de vida posible, este caso muestra que un diagnóstico tardío conduce a un pronóstico y condición de vida desfavorables.

Abstract The perception of pain is an adaptive response to the presence of harmful and potentially fatal events. Congenital insensitivity to pain, Hereditary Sensory and Autonomic Neuropathy Type II or Morvan syndrome of unknown cause, is a condition in which there is a loss of discrimination of the painful signals, as well as the emotional-affective response. Due to this, the person, that suffering this disorder, does not evade the painful stimuli and, consequently, can inflict damage to himself or herself. Even during the treatment of such lesions can produce serious complications as described in the development of the present clinical case. This syndrome is very rare, hence the importance of publicizing the complications that may occur in order for the medical community to detect this type of patients as soon as possible. This case report shows the follow-up of a female patient with Hereditary Sensory and Autonomic Neuropathy Type II for ten years. The patient has had several admissions to the hospital, due to infectious processes in the oral cavity that involved multiple dental organs, evolving to osteomyelitis, and for this reason, the mandibulectomy must performed in the patient; even after she underwent several pharmacological treatments. Despite the efforts to maintain the patient with the best possible quality of life, this case shows that a late diagnosis lead to an unfavorable prognosis and life condition for patients suffering from this genetic anomaly.

Resumo A percepção da dor é uma resposta adaptativa à presença de eventos potencialmente fatais e prejudiciais. A insensibilidade congênita à dor, neuropatia autonômica e sensorial hereditária tipo II, ou síndrome de Morvan de causa desconhecida, é uma condição na qual há perda de discriminação de sinais dolorosos e resposta emocional-emocional. Por esse motivo, a pessoa afetada não evita estímulos dolorosos e, consequentemente, danos podem ser infligidos a si mesma. Mesmo durante o tratamento das referidas lesões, elas podem produzir complicações graves, como descrito no desenvolvimento do presente caso clínico. Essa síndrome é muito rara, daí a importância de divulgar as complicações que podem ocorrer para que a comunidade médica detecte esse tipo de paciente a tempo. Este relato de caso mostra o seguimento de dez anos de uma paciente com diagnóstico de Neuropatia hereditária autonômica e sensorial tipo II. A paciente repetiu internações nos serviços de saúde por processos infecciosos na cavidade bucal que envolviam múltiplos órgãos dentários, evoluindo para osteomielite e, portanto, precisou recorrer à mandibulectomia, mesmo após vários tratamentos farmacológicos. Apesar dos esforços para manter o paciente com a melhor qualidade de vida possível, este caso mostra que um diagnóstico tardio leva a um prognóstico e condição de vida desfavoráveis.

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.

Research on the Diagnosis of Smith-Magenis Syndrome / 中山大学学报(医学科学版)

[Objective] We explore the diagnosis of Smith-Magenis syndrome and its clinical features of children,to raise the domestic awareness of this disease.[Methods] In this study,the child received peripheral blood chromosome microarray analysis,blood routine and urine routine,growth hormone provocation test,insulin-like growth factor Ⅰ and insulin-like growth factor binding protein Ⅲ test,cortisol (8a) test,prolactin test,adrenocorticotropic hormone test,thyroid function test,liver and kidney function test,blood biochemistry test,fasting insulin test,2-hour plasma glucose test,the antibodies and antigens test of hepatitis B.The bone age measurement and the pituitary gland MRI were also performed.We use the above figures to diagnose Smith-Magenis syndrome,assess and observe the condition of the child in Smith-Magenis syndrome.[Results] In this case,the chromosomal microarray analysis revealed a deletion of about 3.6Mb fragments in the chr17p11.2 region,including main functional gene RAI1,which was associated with Smith-Magenis syndrome.According to the clinical manifestations and the result of chromosome microarray analysis,the diagnosis of children with Smith-Magenis syndrome was made clear.[Conclusion] Genetic tests are the standard for diagnosing Smith-Magenis syndrome.When children have special facial features combined with multiple system disorders,early genetic examination is conducive to early diagnosis,and can reduce the time and economic cost.

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report / Insensibilidad al dolor en un niño con una deleción intersticial de novo del brazo largo del cromosoma 4

Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions. The purpose of this report is to document a case of a child affected by interstitial Cr4q del, expressing pain insensitivity as clinical feature not previously described. We also offer a discussion on genetic disorders featuring pain insensitivity/indifference. Case report. A Caucasian girl aged 12 came to our observation for a developmental delay with multiple congenital abnormalities and moderate intellectual disability (IQ 47). A de novo interstitial Cr4 del between band q31.3 and q32.2 (Cr4 del q31.3 to q32.2) was found. The child also expresses no evidence of pain perception to injures which normally evoke pain. Consequently, she is affected by severe disability caused by painless injuries and self-injurious behaviours, such as excessive self-rubbing and scratching. The neurological examination manifested high pain threshold with preserved tactile sensitivity. Conclusions. This is the first report of pain insensitivity in a patient with a specific genetic deletion involving the interstitial region of the distal long arm of Cr4. Moreover, this report could serve as a useful model to better understand mechanisms of pain perception and its modulation.

Complicações osteoarticulares da analgesia congênita / Osteoarticular complications of congenital analgesia

Os autores apresentam dois irmãos com diagnóstico de analgesia congênita, com suas características clínicas e evolução. Essa doença é rara, apresenta alta morbidade e gera complicações osteoarticulares de difícil solução. O objetivo dos autores foi ressaltar a importância do diagnóstico tanto para o tratamento de suas afecções secundárias, quanto para seu aspecto jurídico.

The authors present two brothers with congenital pain insensitivity, with their clinical characteristics and evolution. This disease is rare, has high morbidity and originates complex osteoarticular complications. The aim of the authors was to emphasize the value of the diagnosis for a better treatment and to avoid legal problems to the parents.

Achados fonoaudiológicos na insensibilidade congênito a dor com anidrose: relato de caso / Speech-language findings on pain congenital insensitivity with anhydrosis: case report

OBJETIVO: relatar um caso de insensibilidade congênita a dor com anidrose de uma criança de 3 anos de idade, assim como discutir os achados fonoaudiológicos, em relação aos aspectos do sistema estomatognático, destacando-se o processo de reabilitação dos órgãos fonoarticulatórios. MÉTODOS: relato de caso, baseado nos dados colhidos na anamnese, avaliação clínica, busca em prontuários e entrevista com responsável. RESULTADOS: verificou-se um déficit considerável em todas as funções estomatognáticas, presença de lesões auto-mutilantes com perda tecidual em língua, lábios, mãos e dedos, o que acarretou uma desnutrição grave, quadros de anemia e freqüentes internações. Após intervenção fonoaudiológica, a paciente vem obtendo melhora nas funções acima afetadas, tonicidade dos órgãos fonoarticulatórios, regressão da desnutrição, anemia, auto-mutilação e traumas decorrentes da insensibilidade aos estímulos dolorosos. CONCLUSÃO: a terapia fonoaudiológica neste relato de caso é necessária pela possibilidade de retardar sintomas que aparecerão com a progressão da doença. Dessa maneira, a atuação precoce da fonoaudiologia em consonância com os demais profissionais da equipe de saúde, pode retardar a evolução do quadro clinico, visando uma melhor qualidade de vida para o paciente e para sua família.

PURPOSE: case report of congenital insensitivity to pain with anhydrosis of a 3-year-old child as well as discussing the speech-language findings, in relation to the aspects of the stomatognathic system, highlighting the process of rehabilitation for speech and hearing organs. METHODS: case report, based on the data gathered in the anamnesis, clinical evaluation and interviews with child's parents. RESULTS: a considerable deficit was verified in all the stomatognathic's function, presence of self-mutilation behavior with loss tissue in tongue, lips, hands and fingers that gave rise to a severe malnutrition, anemia pictures and frequent hospital internments. After the speech-language pathologist therapy program the patient has been obtaining improvement in the aforementioned affected functions, tonicity of the speech and hearing organs, and regression of malnutrition, anemia, self-mutilation and current traumas of the insensibility to the painful stimulus. CONCLUSION: the speech-language therapy in this case report is important, pointing out for the possibility of delaying symptoms that will appear with the progression of the disease. In that way, the early performance of the speech-language pathologist in consonance with the other health professionals, may retard the evolution of the clinical picture, seeking a better quality of life for the patients and for their family.

Pain Insensitivity and Pressure Pain Thresholds in Patients with Schizophrenia / 신경정신의학

OBJECTIVES: Decreased pain sensitivity to the external stimuli was sought by measuring the pressure pain thresholds in patients with schizophrenia. In the case of the pain insensitivity(PI) being confirmed, the relationship between psychiatric symptoms and PI was to evaluated. METHODS: 21 schizophrenic and 23 healthy controls were enrolled. Pressure pain thresholds(PPT) were measured by pressure algometer on initial and recovered phase, and positive and negative symptoms by PANSS(Positive and Negative Symptoms Scale)(Stanley et al. 1991) were obtained in patient group. The confounding factor induced by antipsychotics to the PPT was controlled for. Comparisons of PPT between two groups, and correlations of PPT and psychiatric symptoms in patient group were tested. RESULTS: 1) Schizophrenic patients with active psychotic symptoms showed higher PPT compared to healthy controls. 2) When psychiatric symptoms were improved, PPT was decreased to the level of healthy controls. 3) Only the subscale of delusion in PANSS was closely correlated with PPT in patients with schizophrenia. 4) The dose of antipsychotics did not influence the PPT of the patient group. CONCLUSIONS: A part of patients with schizophrenia revealed they had higher pressure pain thresholds, which suggested PI in active symptom phase. However, PPT were restored almost to the level of normal controls when psychotic symptoms were improved. Thus, PI seemed to be a transient phenomenon rather than a persistent one. Changes of pain sensitivity to the external stimuli in schizophrenics would be associated with severity of delusion based upon reversible changes of brain function. Decreased attention due to delusion or lack of motivation seemed to be causal factors of PI. Clinicians should give attention to PI in schizophrenic patients to prevent physical illness and serious injuries in them.

Congenital insensitivity to pain with anhidrosis: a case report

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 self-mutilating behavior and mental retardation. We report on a 16 month-old boy with CIPA who exhibited these characteristic clinical features. A sural nerve biopsy revealed markedly reduced numbers of unmyelinated and small myelinated fibers, consistent with the characteristic features of CIPA.