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Table 2 Clinical phenotypes, clinical outcome and family history of 12 IOPD patients

From: Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

Patient Age at onset Age at diagnosis Manifestation ECG ERT/ Clinical outcome Parental consanguinity
1 7-8 m 9-10 m hypotonia, delayed motor and cardiomyopathy short PR interval, BVH yes, since 11 m./ death around 3y of age no
2 1-2 m 1-2 m tachypnea, mild hepatomegaly short PR interval, BVH, EF 30% yes, since 4 wk./ favorable outcome at 4 y no, but two previous deceased children with cardiomyopathy
3 3-4 m 5-6 m dyspnea short PR interval, BVH no, died at 13 m no
4 3-4 m 7-8 m dyspnea, hypotonia, delayed motor milestone short PR interval, BVH no/ death at 9 m from severe dehydration (diarrhea) no
5 5-6 m 11-12 m dyspnea, hypotonia, delayed motor milestone short PR interval, combined ventricular hypertrophy death from heart failure and pneumonia at the age of 1.5 y no
6 5-6 m 21-22 m dyspnea, poor feeding, FTT, delayed motor milestone short PR interval, BVH, severe MR no/ death around 2 y. no
7 3-4 m 5-6 m dyspnea, delayed motor milestone, hepatomegaly short PR interval, BVH, severe MR, SDD, CK 550 u/L, EF 30% no/ death around 1-2 y. no
8 1-2 m 3-4 m tachypnea, hypotonia, mild hepatomegaly normal PR interval, BVH, SDD, minimal pericardial effusion no/ death at 13 m. no
9 3-4 m 5-6 m hypotonia, delayed motor mille stone, cardiomegaly short PR interval; BVH, EF 10%, CK 1,010 u/L no/ death around 1-2 y. no
10 1-2 m 5-6 m dyspnea, recurrent aspiration and pneumonia short PR interval, BVH, SDD no, died at 10 m. no
11 3-4 m 7-8 m hypotonia, hepatomegaly BVH, SDD no, died around 1-2 y. yes
12 3-4 m 5-6 m hypotonia, pneumonia with respiratory failure and failed endotracheal extubation short PR, BVH, mild sub-aortic obstruction, SDD, EF 13%, CK 966 u/L yes, since 6m. / ventilator-dependent at 18 m., motor power grade 3 no
  1. BVH Biventricular hypertrophy, CK Creatine kinase enzyme, ECG Electrocardiography, EF Ejection fraction, ERT Enzyme replacement