[Glycogenosis type II, infantile variant. Report of a case and review of the literature].
A case of glycogenosis type II infantile onset (Pompe's disease) is presented, and the literature is reviewed in order to establish the basis of the diagnostic suspect. We studied an 8-month old female with muscular weakness--and cardiac failure. The chest X-ray: cardiomegaly; electrocardiogram: PR interval of 0.06 seconds, gigant QRS complexes, biventricular hypertrophy, and the echocardiogram and cineangiography: left ventricle hypertrophy and hypokinesia. The patient died because of refractory heart failure. Histochemical examination demonstrated excessive intracellular accumulation of glycogen. Also, in the muscle, the kidneys and the liver we did not find any alpha 1,4 glucosidase. Then, the diagnosis of glycogenosis type II infantile onset was established. Finally, we conclude that this disease should be suspected in every infant with muscular weakness, cardiac failure, cardiomegaly, electrocardiogram with shortness of PR interval, gigant QRS complexes and biventricular hypertrophy, and that needs to be confirmed by muscle biopsy. At the moment, there has not been reported any case of Pompe's disease in the Mexican literature.
D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D006003:Glycogen / Q000032:analysis; D006008:Glycogen Storage Disease / Q000503:physiopathology*; D006009:Glycogen Storage Disease Type II / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D009206:Myocardium / Q000473:pathology; D010179:Pancreas / Q000473:pathology
D006003:Glycogen
Glucogenosis tipo II variedad infantil. Informe de un caso y revisión de la literatura.