García Mendoza J J, Ortega Sánchez A, Acosta Valdez J L, Stanislawski Mielant E C, Navarro Muñoz C, Díaz-Devis C
Arch Inst Cardiol Mex. 1986 Jul-Aug;56(4):323-6.
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.
本文报告了一例婴儿期发病的II型糖原贮积病（庞贝氏病）病例，并对相关文献进行综述以确定诊断怀疑的依据。我们研究了一名8个月大的患有肌无力和心力衰竭的女性。胸部X线检查显示心脏扩大；心电图显示PR间期为0.06秒、巨大QRS波群、双心室肥厚，超声心动图和心血管造影显示左心室肥厚和运动减弱。患者因难治性心力衰竭死亡。组织化学检查显示细胞内糖原过度蓄积。此外，在肌肉、肾脏和肝脏中未发现任何α-1,4-葡萄糖苷酶。于是，确诊为婴儿期发病的II型糖原贮积病。最后，我们得出结论，对于每一名患有肌无力、心力衰竭、心脏扩大、PR间期缩短、巨大QRS波群和双心室肥厚的心电图表现的婴儿都应怀疑本病，且需要通过肌肉活检来确诊。目前，墨西哥文献中尚未报道过庞贝氏病病例。
