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Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme described in 1932 by the Dutch pathologist Joannes Cassianus Pompe. The prevalence of PD ranges from 1:40,000 to 1:300,000 births and depends on geographic and ethnic factors. Clinical manifestations may vary from a rapidly progressive disabling disease with cardiomegaly, hepatomegaly, weakness, generalized hypotonia, and death within the first year of life, to a mild presentation characterized by slowly progressive myopathy predominantly involving the skeletal muscles. The laboratory diagnostic gold standard is represented by the determination of the alpha-glucosidase activity. However, the muscle histology may also yield the diagnosis by evaluating the tissular glycogen accumulation. Until recently, supportive measures constituted the unique available therapy. Currently, the administration of the recombinant GAA is being used with promising results. The authors present the case of a 5-month-old boy, previously diagnosed with hypertrophic cardiomyopathy since the age of 2 months, who presented acute heart failure accompanied by biventricular dilation followed by refractory shock and death. The autopsy findings confirmed the glycogen-accumulation disease.

The infantile-onset form of Pompe disease: an autopsy diagnosis