[Pompe disease or type 2 glycogenosis].
We report the case of a rapidly progressing respiratory failure of a three-month old infant, who shows a cardiomyopathy with left ventricule hypertrophy leading to a Pompe's disease diagnosis. This type 2 glycogenosis will be confirmed by the enzymatic study of the hepatocytes. It is a genetic pathology associated with a deficient activity of the acid maltase resulting in a intralysosomial accumulation of glycogen. The most generally responsible mutations are: delta 18 et delta 525. Prognosis is quite bad with a progressive deterioration of the heart, brain and muscular functions causing death at around 4 to 8 months. Type 2 glycogenosis may be diagnosed before birth through enzymatic study of a material collected through an amniocentesis or a biopsy on chorionic villi, and through DNA analysis. Curative treatment is still under study, but two main research orientations are being developed: genic therapy using viral vector and the correction of the enzymatic deficiency thanks to the synthesis of alpha glucosidase modified to specially get affixed to the heart and muscular cells. Both techniques have already show some encouraging results even though the clinical applications are not presently valid yet.
D005260:Female; D015316:Genetic Therapy; D006009:Glycogen Storage Disease Type II / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology; D007223:Infant; D017354:Point Mutation; D011379:Prognosis; D000520:alpha-Glucosidases / Q000096:biosynthesis / Q000378:metabolism