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          VOLUME 49 / ISSUE 4


The Journal is Indexed in


13 - Significance of echocardiography for early diagnosing the infantile Pompe disease

Taliha Öner, Gülperi Yağar Keskin, Seda Ocak, Tuba Kasapbaşı Gök

Pompe disease is a lysosomal storage disorder, which is rare and has an enzyme treatment. In infantile Pompe disease, early treatment is very important to determine the disease prognosis. The presentation of these two cases aimed to highlight the importance of early detection of Pompe disease and the diagnostic significance of echocardiographic assessment one again. One of the patients presented with hypotonicity and murmur at 5 months of age and found having apparent hypertrophic cardiomyopathy in echocardiography; and the other patient was referred to us due to the detection of cardiomegaly in chest radiography at 2 months of age, and had no pathological features except impassive crying at the physical examination and found having hypertrophic cardiomyopathy in the echocardiography. The patient of 5 months old was died due to aspiration of formula within 1 month before initiating the enzyme treatment, whereas the patient of 2 months old was initiated with the enzyme treatment. Still under treatment, the cardiac hypertrophy of this patient was started to regress 1 month after initiating the treatment. These two cases were presented to highlight that the early detection of Pompe disease is critical for prognosis and the echocardiographic assessment is very useful for diagnosis.

Keywords: Hypertrophic cardiomyopathy, pompe disease

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