Clinical analysis of five cases of glycogen storage disease type II in PICU

Abstract

Objective To investigate the clinical manifestations of infantile and late-onset glycogen storage disease type Ⅱ. Methods We analyzed the clinical manifestations and prognosis of infantile and late-onset glycogen storage disease type Ⅱ with a retrospective analysis of five cases admitted in PICU of Shengjing Hospital of China Medical University from 2013 to 2014. Results First symptoms of three infantile cases were dyspnea, cardiac hypertrophy, hepatomegaly, skeletal muscle weakness and low concentration of α-glucosidase A. Two cases completed gene detection.One case had frameshift mutation and missense mutation, and the other had two missense mutation.Three infantile cases all showed arrhythmia performance.Two cases died of fatal arrhythmia.One case received enzyme replacement therapy and survived.The main symptoms of two late-onset cases who had not get gene detection were dyspnea, low muscle strength, muscle hypotonia and low concentration of acid α-glucosidase.One case received mechanical ventilation, complicated with multiple infections, severe pneumonia and ventilator dependence, finally gave up the treatment.The other died of cardiac arrhythmia. Conclusion Infantile cases have the major symptoms of myocardial hypertrophy, hepatomegaly, low muscular tension with rapid progression, high mortality and fatal arrhythmia.Late-onset cases have the clinical features of respiratory failure, proximal limb muscle weakness and be susceptible to ventilator dependence and multiple infections.Enzyme replacement therapy can improve the clinical symptoms of infantile cases. Key words: Glycogen storage disease type Ⅱ; Infantile; Late-onset; Enzyme replacement therapy