Anestesia congênita de córnea: relatos de casos / Congenital corneal anesthesia: case reports

Descrição de nove casos de anestesia congênita de córnea, sendo que desses, seis apresentavam alterações sistêmicas associadas ao quadro ocular. Três pacientes realizaram eletroneuromiografia, um sem alteração ao exame e dois com alteração isolada do ramo oftálmico do nervo trigêmeo bilateralmente. Dois pacientes tinham acuidade visual inicial melhor que 20/60 no início da avaliação e seis tinham acuidade visual final melhor que 20/60 na última visita. Todos foram submetidos a algum tipo de tratamento cirúrgico e evoluíram com opacidades corneana de tamanho variável. O tratamento dos pacientes com anestesia congênita de córnea deve ser realizado o mais precoce possível e de forma rigorosa a fim de evitar danos à transparência corneana. Investigação sistêmica, acompanhamento de perto e preparação familiar para tratamento a longo prazo e multidisciplinar são necessários para preservar a saúde ocular.

Case series of nine patients with congenital corneal anesthesia, six of them showed systemic changes in association with the ocular status. Three patients were submitted to electromyography, two showed isolated bilateral ophthalmic ramus alteration. Two patients had initial visual acuity better than 20/60 and six had final best corrected visual acuity better than 20/60 at the last visit. All of them were treated surgically and developed cornea opacities of variable sizes. Treatment of corneal congenital anesthesia must be performed as soon as possible to avoid corneal opacification. Systemic investigation, close follow-up and preparing the family for longterm and multidisciplinary approach are crucial to maintain the ocular health.

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.

[Congenital insensitivity to pain]

Congenital insensitivity to pain is rare hereditary sensory neuropathy which was first described by Deaborn in 1930. It usually manifestated in childhood by a history of unrecognized trauma, in difference to clinical features are stereotyped but its exact nosological status remains in doubt. We report two cases diagnosed with congenital insensivity to pain. These children present self-mutilations of fingers and tips, with cutaneous windys and chronic ulcerations. The diagnosis is usually delayed because of the disease's rarity and difficulties in communicating with the child because of his or her mental retardation. Management includes early recognition of the condition, prevention of injury, immobilization of extremities, and surgical correction of established deformities

propos d'un cas d'indifference congenitale a la douleur

The authors referead to an observation of congenital indifference to pain diagnosed in a little girl who presents a list of symptoms of ulcero munilante acropathy. Review of litterature have been made concerning, pathogenic, the differential diagnosis and be haviour to beadopted before this pathology