Analgesia congénita: reporte de dos casos / Congenital Analgesia: report of 2 cases

Resumen: La analgesia congénita es un padecimiento poco frecuente, en la literatura internacional se ha reportado en contados casos desde 1932, año en el que fue descrita por primera vez. Su causa ha sido motivo del desarrollo de múltiples teorías y numerosos estudios a través de los años. Actualmente diversos estudios y experimentos apuntan como origen la mutación en el gen SCN9A que codifica para los canales de sodio, los cuales tienen un papel muy importante en la transmisión de señales nociceptivas en el cuerpo humano. El motivo del presente estudio es dar a conocer dos casos que fueron valorados en el servicio de ortopedia pediátrica de la UMAE HTYOLV, pacientes en quienes la falta de sensibilidad al dolor ha producido lesiones importantes que fueron en su momento motivo de valoración por parte del hospital.

Abstract: Congenital analgesia is a rare condition, reporting in the international literature in rare cases since 1932, when it was first described. Its cause has been the subject of development of multiple theories and studies through the years. Currently various studies and experiments as its origin point mutation in the gene encoding SC9NA sodium channels, which have an important role in nociceptive transmission signals in the human body. The purpose of this study is to present two cases that were valued in the department of pediatric orthopedics at UMAE HTYOLV, patients whose insensitivity to pain has produced significant injuries that were once cause for valuation of the hospital.

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.

Insensibilidad congénita al dolor / Congenital insensitivity to pain

La insensibilidad congénita al dolor es una neuropatía poco frecuente, con herencia autosómica recesiva y que puede asociarse con anhidrosis, retardo mental y automutilación. Sus aspectos moleculares son claros y su principal hallazgo son fracturas no sintomáticas. La mortalidad ocasionada por hiperpirexia puede ser hasta del 20 por ciento

Congenital indifference to pain.

Congenital analgesia can vary from simple analgesia without any systemic dysfunction to more serious conditions associated with peripheral neuropathy, self-mutilation, and mental retardation. Prevention of injury is important for normal growth of the child.

Insensibilidade congênita universal à dor / Congenital universal insensitivity to pain

Os A.A. apresentam para registro, os dois primeiros casos da síndrome de insensibildiade congênita universal a dor, observados no Instituto Penido Burnier. Näo há mençäo de casos semelhantes na literatura oftalmológica nacional. Essa condiçäo mórbida näo tem sido considerada nem mesmo nos tratados clássicos da especialidade. A exceçäo é a Neuro-Oftalmologia de Walsh e Hoyt, 1969. Sobre um pano de fundo dominado pela insensibilidade a dor - condiçäo incompreensível e de significado inatingível pelas pessoas normais, que näo conseguem realizar intelectualemente um fato täo explicitamente de sensaçäo, ou melhormente, de falta de sensaçäo - desenrola-se uma infortunística traumatológica. O quadro ocular é dominado pelas lesöes corneanas , favorecidas pela insensibilidade, agravadas pelas alteraçöes do metabolismo do tecido de uma córnea anestésica e matizadas pela imprudência ingênua de crianças que näo aprenderam a inibir-se pelo freio repressivo da dor. Uma revisäo da matéria é feita. O quadro clínico é descrito em detalhes. O diagnóstico diferencial é considerado. O enfoque central da comunicaçäo é dado ao trabalho do oftalmologista em tentar evitar a cegueira total. Tratam-se de seqüências a longo prazo (16 anos). O quadro clínico de nossos pacientes justapöe-se, a perfeiçäo, aquelos referidos na literatura mundial