Acta Med Port 2014 Jul-Aug;27(4):525-529 RESUMOIntrodução: A Doença de Pompe é uma miopatia autossómica recessiva progressiva e incapacitante, devida ao défice da enzima lisossómica α-glicosidade-ácida. A sua forma tardia tem uma apresentação heterogénea que mimetiza outras doenças neuromusculares, o que dificulta o diagnóstico. Objectivo: Desenvolver recomendações baseadas em consenso para o diagnóstico da forma tardia da doença de Pompe. Material e Métodos:Revisão bibliográfica e análise de um questionário de opinião aplicado a um grupo de especialistas com experiência no diagnóstico de várias miopatias e doenças de sobrecarga lisossomal. Discussão em reunião de consenso. Recomendações: Doentes com miopatia proximal progressiva, fadiga, cãibras e mialgias devem ser submetidos a uma avaliação complementar com determinação de níveis de creatinina fosfoquinase, electromiograma, espirometria dinâmica e, em casos inconclusivos, biópsia muscular. Nos casos suspeitos ou naqueles em que a biópsia muscular não permita outro diagnóstico deve ser determinada a atividade da enzima lisossómica α-glicosidade-ácida através de teste de gota seca (DBS -dried blood spot). A redução da atividade da enzima lisossómica α-glicosidade-ácida requer a confirmação numa segunda amostra e a sequenciação do gene da enzima lisossómica α-glicosidade-ácida. Palavras-chave: Idade de Início; Consenso; Doença de Armazenamento de Glicogénio tipo II. ABSTRACT Introduction:Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. Material and Methods: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. Recommendations:Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.

Angiosarcoma is the most common primary malignant tumour of the heart. It is a rare and aggressive neoplasm that almost always has a short and fatal evolution. By the time it produces symptoms it has usually progressed to a mass causing haemodynamic compromise. Initial presentation with metastatic disease is unusual. We report the case of a 72-year-old man who presented with painful skin lesions on both hands. The skin biopsy was diagnosed as intravascular metastasis of epithelioid angiosarcoma. Body computed tomography scan disclosed a solid mass in the left atrium. The tumour was judged unresectable and the patient was treated with systemic chemotherapy, consisting of liposomal doxorubicin, which resulted in a complete clinical response. The patient remains free of disease after 48 months of follow-up. The excellent clinical evolution of our patient verifies that liposomal doxorubicin may be effective in the treatment of these tumours and significantly prolong patients' lifespan.

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