Pompe disease in infants and children

Pompe disease diagnosis and management guideline

“…It was the first recognized lysosomal storage disease and is the only glycogen storage disease that is also a lysosomal storage disease. In Pompe disease, lysosomal glycogen accumulates in many tissues with skeletal, cardiac, and smooth muscle most prominently involved 2,3…”

“…In the presence of LV outflow tract obstruction, the use of digoxin, other inotropes, diuretics, and afterload reducing agents such as ACE-inhibitors may exacerbate the left ventricular outflow tract obstruction. These agents, however, are generally used in the later phases of the disease in the face of ventricular dysfunction 3. Several anecdotal unreported cases of sudden death associated with the use of beta blockers in Pompe patients have suggested that this class of drugs should be used judiciously.…”

“…Muscles may feel firm or hypertrophic despite weakness 2,3. Distribution and extent of weakness vary depending on severity of disease with weakness usually greater proximally than distally and greater in lower extremities than in upper extremities.…”

CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

“…The phenotype of Pompe disease is heterogeneous and primarily characterized by accumulation of glycogen in skeletal and cardiac muscle associated with progressive skeletal muscle weakness in all variants of the disease and by rapidly progressive hypertrophic cardiomyopathy and early death at about the age of 1 year in patients with the severe infantile variant (Hirschhorn and Reuser 2001;Kishnani and Howell 2004;Kishnani et al 2006a). Glycogen accumulation, however, has also been well documented in central (CNS) and peripheral (PNS) nervous systems (Gambetti et al 1971;Mancall et al 1965;Martin et al 1973;Sakurai et al 1974), also leading to cochlear dysfunction with subsequent hearing loss .…”

Thérapies enzymatiques substitutives des maladies lysosomales

“…Entre ces deux pôles du spectre clinique existent des formes intermédiaires, dites juvéniles, apparemment sous-diagnostiquées. La maladie de Pompe est une affection de révélation pédiatrique, constamment mortelle avant l'âge de 3 ans en l'absence de traitement spécifique [25]. Elle est caractérisée par une hypotonie extrême et une cardiomégalie considérable avec traduction électrocardiographique, radiographique (Figure 3) et clinique.…”