A case of zellweger syndrome accompanied by hypertrophic cardiomyopathy
Journal Title: Medical Science and Discovery - Year 2016, Vol 3, Issue 5
Abstract
Peroxisomal biogenesis disorders are a group of genetically and clinically heterogenous disorders which affect very-long chain fatty acid metabolism. Zellweger syndrome (ZS) is a rare, congenital disorder characterized by multisystem involvement including central nervous system, skeletal system, liver, kidney and eyes, due to absence of peroxisomes in the cells. Hypertrophic cardiomyopathy (HCM) is defined as septal or posterior wall thickness that is more than two standard deviations above the mean normal thickness measured by echocardiography. Here we present a newborn with Zellweger syndrome and hypertrophic cardiomyopathy.
Authors and Affiliations
Yusuf Kale, Istemi Celik, Ferit Kulali, Osman Yilmaz, Ahmet Bas, Nihal Demirel
Keywords
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