Dal fegato al muscolo: una rara malattia a esordio tardivo

Abstract

We describe the case of a seven-year-old child who, following the incidental finding of hypertransaminasemia in the blood tests performed for a lymphadenopathy, is subjected to other blood tests that show a persistent moderate increase in CPK values, supporting the hypothesis of a muscle disease even in the absence of specific symptoms. The diagnostic path seems to point towards a late-onset metabolic myopathy. The occasional finding of hypertransaminases , associated with the finding of high CPK levels in an asymptomatic or paucisymptomatic child, orients the diagnostic path. Excluding hepatic storage disease or viral infectious disease, the differential diagnosis leads to a complex late-onset myopathy such as Pompe disease, a rare but important diagnosis whose prognosis could be dramatically improved by the enzyme replacement therapy.