Division of Pediatric Cardiology, The Children's Hospital of Michigan, Detroit, MI, USA.
Division of Pediatric Cardiology, Children's Hospital at Montefiore, Bronx, NY, USA.
Cardiol Young. 2020 Feb;30(2):275-277. doi: 10.1017/S1047951119003160. Epub 2020 Jan 27.
Pompe disease is a type-II glycogen storage disease, and clinical manifestations include hypertrophic cardiomyopathy and generalised muscular hypotonia. Enzyme replacement therapy has proven to be effective in reversing the ventricular hypertrophy. The outcomes are variable depending on time to diagnosis and severity of the cardiac disease. We describe two contrasting cases of patients with infantile-onset Pompe disease. The first child was diagnosed late and had severe cardiac hypertrophy with respiratory decompensation and ventilator dependence and eventual death. The second case was diagnosed at birth with early initiation of therapy resulting in a good outcome. Our cases highlight the importance of early initiation of enzyme replacement therapy to improve clinical outcomes.
庞贝病是一种 II 型糖原贮积病，临床表现包括肥厚型心肌病和全身性肌肉张力减退。酶替代疗法已被证明可有效逆转心室肥厚。治疗结果因诊断时间和心脏病严重程度而异。我们描述了两例具有对比性的婴儿期起病的庞贝病患者。第一个孩子被诊断较晚，有严重的心脏肥大，伴有呼吸失代偿和呼吸机依赖，最终死亡。第二个病例在出生时即被诊断，并早期开始治疗，结果良好。我们的病例强调了早期开始酶替代疗法以改善临床结果的重要性。
