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OBJETIVO: Avaliar a progressao da mucopolissacaridose II, durante um periodo de 12 meses, em 11 pacientes brasileiros. METODOS: Onze pacientes brasileiros com mucopolissacaridose II foram avaliados prospectivamente no Servico de Genetica Medica do Hospital de Clinicas de Porto Alegre. As avaliacoes realizadas na visita inicial e na de 12 meses foram: anamnese, exame fisico, ressonância nuclear magnetica abdominal, ecocardiograma, teste da caminhada em 6 minutos, audiometria, exames bioquimicos sericos e dosagem urina- ria de glicosaminoglicanos. RESULTADOS: Os principais achados relativos a comparacao entre as duas visitas foram: 1) dois pacientes apresentaram retardo de crescimento; 2) dois pacientes apresentaram variacao negativa em relacao ao peso; 3) um paciente apresentou variacao de obesidade para sobrepeso; 4) tres pacientes desenvolveram alargamento do ventriculo esquerdo; destes, dois aumentaram o numero de lesoes nas valvas cardiacas; 5) nao foi encontrada diferenca estatistica significativa entre a media das distâncias percorridas no teste da caminhada em 6 minutos; 6) houve aumento do volume esplenico; 7) ocorreu aumento dos niveis de gamaglutamiltransferase; 8) nao houve alteracao dos niveis urinarios de glicosaminoglicanos. CONCLUSOES: De uma maneira geral, a unica variavel que apresentou, no periodo estudado, piora com potencial repercussao clinica imediata foram os achados ecocardiograficos. Embora o periodo de 12 meses seja curto para medir alteracoes na maioria dos parâmetros comprometidos na mucopolissacaridose II, sua natureza progressiva deve ser levada em conta na avaliacao da eficacia dos protocolos de tratamento para essa condicao.

Objective: to report a case of a patient diagnosed with Wolfram Syndrome and brachydactyly type E. Wolfram Syndrome is characterized by the presence of diabetes mellitus, diabetes insipidus, atrophy of the optic nerve, alterations of the urinary tract, deafness and neurologic and psychiatric disorders. However, not all manifestations are present at diagnosis, indicating the necessity of long-term follow-up of these patients. This long-term follow-up should be extended to the patients' closest relatives, having in mind the increased risk of occurrence of psychiatric disorders and diabetes mellitus among the heterozygous carriers of Wolfram Syndrome. Description: male, white patients, only child of non-consanguineous parents, was healthy until four years of age, when he presented with polydipsia and polyuria, being diagnosed with diabetes mellitus type I. Since then, he has needed regular insulin use, but has followed an inadequate diet due to socioeconomic problems. He was evaluated by the genetic service when he was 11 years old. Brachydactyly was observed on physical examination. In the course of the complementary investigation, bilateral atrophy of the optic nerve was observed; the visual evoked potential and the electroretinogram were compatible with extensive optic nerve injury. Both retinas were normal. The presence of insulin-dependent diabetes mellitus together with atrophy of the optic nerve is a sufficient criterion for the diagnosis of Wolfram Syndrome. The molecular investigation confirmed the diagnosis of Wolfram Syndrome. Comments: the aim of the present report is to alert physicians about the association between diabetes mellitus and monogenic syndromes, such as Wolfram Syndrome.