Late-onset Pompe disease in a 54 year-old sportsman with an episode of syncope: a case report

M. Walczak-Galezewska, D. Skrypnik, M. Szulinska, K. Musialik, K. Skrypnik, P. Bogdanski

Department of Internal Diseases, Metabolic Disorders and Hypertension, Poznan University of Medical Sciences, Poland. walczak_marta@interia.pl

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• Metabolism

Pompe disease is an extra-rare metabolic storage disease with deficiency of acid-alpha-glucosidase (GAA) enzyme activity, which leads to the pathologic accumulation of glycogen in target tissues (skeletal muscles, heart, brain). Clinical features and severity vary by the age of onset, rate of extent of organ involvement. In the late-onset Pompe disease (LOPD) form, essential cardiomyopathy seems to be uncommon. Muscles weakness and respiratory failure are the main symptoms of adult patient with Pompe disease. In presented case LOPD coupled with patient’s regular sporting activity and healthy diet, which may explain the low intensity of the symptoms and the slow progress of the disease, lack of skeletal muscles weakness and lack of brain manifestation. Myocardial storage deposits are the only abnormalities found.

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