A case of infantile Pompe disease with intrauterine onset and literature review

Abstract

Background: Pompe disease is a rare autosomal recessive disease.Acid alpha-glucosidase deficiency leads to glycogen storage in lysosomes, causing skeletal muscle, cardiac muscle and smooth muscle lesions.Pompe disease is progressive and the severity of the disease depends on the age of onset.The most severe form, known as classic infantile Pompe disease (IOPD), characterized by onset before 12 months.However, few cases of intrauterine onset have been reported.Case presentation: The proband was born at 40 weeks+3 days of gestational age and admitted to our hospital due to cardiac hypertrophy found in the uterus, shortness of breath and cyanosis after birth for 13 minutes. Physical examination at admission time showed poor response, pale skin, shortness of breath, low limb muscle tone and edema of both lower extremities. The heart sounds were weak without heart murmur. Echocardiography showed: left ventricular hypertrophy (9mm),right ventricular hypertrophy (5mm); The patient was given non-invasive ventilator-assisted respiration, fluid restriction, diuresis and metoprolol treatment. The child was diagnosed as infantile Pompe disease at 16 days with the acid alpha-glucosidase 0.31umol/l/h and the full penetrance gene test showing homozygous gene mutation c. 1844G>T(p.Gly615Val).The literature search retrieved a total of 3 articles and reported 5 Pompe disease infants with intrauterine onset. So there was a total of 6 cases,among whom,4 cases showing hypertrophic cardiomyopathy, 1 case with dilated cardiomyopathy, and 1 case had myocardial "mass". All cases had creatine kinase(CK) elevation, GAA decrease and gene mutation.2 cases needed ventilator assisted support and 4 cases were treated with enzyme replacement therapy(ERT), one of whom died at 14months; 2 patients without ERT treatment progressed rapidly, and our patient died at 7 months of age.Conclusion: Infants with intrauterine-onset Pompe disease mostly have early manifestations of heart disease. GAA determination and molecular genetic testing as soon as possible are helpful for parents to make early decision and early treatment.