Chávez-Quintero FJ, Hernández-Flores MS, Pérez-García G, Ceja-Moreno H

Language: Spanish
References: 0
Page: 103-106
PDF size: 544.72 Kb.

ABSTRACT

2 year old female from a term pregnancy who presents delayed motor development from 3 months of age, not being able to hold her head, crawl, walk, weak respiratory effort which complicates coughing presenting frequent respiratory infections. Physical examination shows generalized hypotonic muscles, shallow breathing, jugular ingurgitation, lower limb edema and hepatosplenomegaly. Pompe disease is a rare, progressive and often fatal sickness. It is defined for an irreversible deficiency of alpha – glucosidase enzyme (GAA). It is a recessive autosomal genetic mutation. It is considered a cardiac disease because of the important cardiomyopathy and cardiomegaly that can accompany it. It is also known as glucogen deposit disease type II or glucogenosys type II