Pompe's Disease in Childhood: A Metabolic Myopathy.

BACKGROUND

Myopathy of metabolic origin in childhood occurs due to a variety of conditions. Pompe's Disease also known as Glycogen storage disease Type II, is a rare storage disorder with clinical presentation akin to spinal muscular atrophy.

METHODS

A series of patients with suspected metabolic myopathy were reviewed at a tertiary care service hospital over a period of three years. The diagnosis was confirmed by estimation of acid alpha glucosidase activity.

RESULT: At our centre, these cases presented with generalized hypotonia, organomegaly (hepatomegaly, cardiomegaly) and congestive cardiac failure. Infantile onset, the most severe form of Pompe's disease, was the commonest form accounting for 75% of the cases. Four of the babies with infantile onset Pompe's disease expired, three due to refractory heart failure and one to fulminant respiratory infection before 15 months of age.

CONCLUSION

Pompe's Disease is now being increasingly diagnosed, due to definitive enzyme estimation facilities. With the recent availability of enzyme replacement therapy with Myozyme, the prognosis is likely to change for the better.