Özet:

Zellweger syndrome is a rare, congenital disorder characterized by the anomalies of neurologic system, skeletal system, liver, kidney and eye due to lack or absence of peroxisomes in the cells. Also it is called as cerebrohepatorenal syndrome and inherited by autosomal recessive. Characteristic symptoms of the disease include growth reterdation; hypotonia, serious problems in brain development; facial deformities such as a high forehead, ocular hypertelorism and deformed ear lobes and hepatomegaly. A decrease in the number of peroxsisomes causes an increase in fatty acids with very long chains in the blood and a decrease in plasmologenes in the erythrocytes. Many congenital cardiac diseases can be detected in Zellweger syndrome. In the present report, a 3-month old girl with Zellweger syndrome who was diagnosed as hypertrophic cardiomyopathy, not mentioned in the literature beforehand, was reported.

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