The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature

Abstract

Survival, decrease of the diastolic thickness of the left ventricular posterior wall, and achievement of major motor milestones are valid endpoints for therapeutic studies of infantile Pompe's disease. Mutation analysis and measurement of the alpha-glucosidase activity should be part of the enrollment program.

Pompe disease diagnosis and management guideline

“…In both studies, cardiomegaly, cardiomyopathy, hypotonia, muscle weakness, respiratory distress, respiratory infections, feeding difficulties, and failure to thrive were reported as frequently presenting signs and symptoms 5,6,18. In summary, both studies concluded that the natural history of infantile Pompe disease has changed little since its original description, though the absence of large, well characterized and unbiased data sets has been a limitation.…”

“…Herein, we have considered Pompe disease a continuum of disease spectrum varying by age of onset, organ involvement and degree of myopathy. In an attempt towards establishing a uniform terminology, we broadly classify Pompe disease as follows: infantile form that includespatients as originally described by PJ Pompe, a Dutch pathologist, in 19324 who exhibit rapidly progressive disease characterized by prominent cardiomegaly, hepatomegaly, weakness and hypotonia, and death due to cardiorespiratory failure in the first year 5,6. This represents the most severe end of the disease spectrum and is often referred to as classic infantile Pompe disease.…”

“…patients as originally described by PJ Pompe, a Dutch pathologist, in 19324 who exhibit rapidly progressive disease characterized by prominent cardiomegaly, hepatomegaly, weakness and hypotonia, and death due to cardiorespiratory failure in the first year 5,6. This represents the most severe end of the disease spectrum and is often referred to as classic infantile Pompe disease.…”

“…Patients with Pompe disease are also at an increased risk for aspiration pneumonia (see GI section below). While disease progression in patients with the infantile form is rapid,5,6,17 patients with late onset Pompe disease have a more gradual onset of similar, but initially less severe, respiratory compromise.…”

The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE

“…The cardinal features of severe cardiomyopathy and muscle weakness represent the phenotype of infantile Pompe disease, with prediction of death at a median age of 7.7 and 6 months in Dutch and non-Dutch patients, respectively (Van den Hout et al 2003) . Kishnani et al reported on the impact of rhGAA on prolonging the survival of infants with Pompe disease (Kishnani et al 2009), while Kanters et al have demonstrated the substantial burden of disease both on the individual and the society in adults with Pompe disease (Kanters et al 2011).…”