Jornal Vascular Brasileiro
https://www.jvascbras.org/article/doi/10.1590/1677-5449.005615
Jornal Vascular Brasileiro
Therapeutic Challenge

Desafios clínicos e psicossociais no tratamento de um paciente com síndrome de Proteus

Clinical and psychosocial challenges in the treatment of a patient with Proteus syndrome

Matheus Bertanha; Regina Moura; Marcone Lima Sobreira; Lied Martins Santiago Pereira; Rodrigo Gibin Jaldin; Manuella Pacífico de Freitas Segredo; Hamilton Almeida Rollo; Winston Bonetti Yoshida

http://dx.doi.org/10.1590/1677-5449.005615 J Vasc Bras, vol.14, n4, p.346-350, 2015
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Resumo

Resumo A Síndrome de Proteus é uma rara associação de malformações que podem afetar vários tecidos e órgãos. É caracterizada por macrodactilia bilateral, hipertrofia craniana, anomalias ósseas, escoliose, hamartomas de tecidos moles, nevo verrucoso pigmentar, anormalidades viscerais e outras hipertrofias. Há pouco mais de 200 casos notificados em todo o mundo. O presente artigo relata a evolução clínica de um paciente pediátrico com essa síndrome. A criança apresentou desnutrição grave associada ao extremo gigantismo de membros inferiores. Além disso, apresentou repercussões psicossociais relacionadas à exclusão social. A doença tornou-se mais grave e progrediu como síndrome consumptiva. Finalmente, os pais concordaram com a amputação dos membros inferiores hipertróficos. Um ano após as amputações, a criança estava totalmente reabilitada, protetizada dos membros amputados, com melhora nutricional, além de apresentar notória recuperação psicológica e reinserção social, o que representou melhora significativa da qualidade de vida para o paciente.

Palavras-chave

amputação, anormalidades congênitas, anormalidades musculosqueléticas

Abstract

Abstract Proteus syndrome is a rare combination of malformations that can affect several tissues and organs. It is characterized by bilateral macrodactyly, cranial hypertrophy, bone anomalies, scoliosis, soft-tissue hamartomas, verrucous pigmented nevus, visceral abnormalities and other forms of hypertrophy. Just over 200 cases have been reported worldwide. This article reports on the clinical course of a pediatric patient with this syndrome. The child had severe malnutrition associated with extreme gigantism of the lower limbs and also psychosocial problems related to social exclusion. As the disease progressed it exacerbated and evolved into a wasting syndrome. After several years, the parents agreed to amputation of the hypertrophic lower limbs. One year after the amputations the child had been rehabilitated and had adapted to prostheses, with nutritional improvement and notable psychological recovery and social reintegration, which represented a significant improvement in his quality of life.

Keywords

amputation, congenital abnormalities, musculoskeletal abnormalities

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