Significance of echocardiography for early diagnosing the infantile Pompe disease

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.

Ýnfantil Pompe hastalýðýnýn erken teþhisinde ekokardiyografinin önemi

Pompe hastalýðý nadir görülen ve enzim tedavisi olan lizozamal depo hastalýklarýndan biridir. Ýnfantil Pompe hastalýðýnda erken tedavi hastalýðýn prognozunu belirlemede çok önemlidir. Bu 2 vaka ile Pompe hastalýðýný erken tespit etmenin ve ekokardiyografik deðerlendirmenin tanýdaki önemini vurgulamak istedik. Birinci olgu 5 aylýkken bize hipotonisite ve üfürüm nedeniyle getirildi ve ekokardiyografide belirgin hipertrofik kardiyomiyopatisi vardý. Ýkinci olgu ise 2 aylýkken akciðer grafisinde kardiyomegali saptanmasý üzerine bize yönlendirilen fizik muayenede cansýz aðlama dýþýnda patolojik özelliði olmayan ekokardiyografide hipertrofik kardiyomiyopati saptanan hastaydý. Beþ aylýkken bize baþvuran birinci olgu enzim tedavisine baþlanamadan 1 ay içinde mama aspirasyonu nedeniyle kaybedilirken; 2 aylýk olan hastaya enzim tedavisi baþlandý. Tedavisine halen devam eden bu hastanýn kardiyak hipertrofisi tedavi baþladýktan 1 ay sonra gerilemeye baþladý. Bu 2 vaka ile pompe hastalýðýný erken saptamanýn prognoz açýsýndan çok önemli olduðunu ve tanýda ekokardiyografik deðerlendirmenin çok deðerli olduðunu vurgulamak istedik.