A case of zellweger syndrome accompanied by hypertrophic cardiomyopathy

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Published: May 15, 2016
Keywords:
Hypertrophic Cardiomyopathy Zellweger Syndrome Newborn

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Yusuf Kale
Cengiz Gokcek Obstetrics and Children's Hospital Dept. of Newborn Intensive Care Unit, Gaziantep, Turkey
Istemi Han Celik
Etlik Zubeyde Hanım Training and Research Hospital, Dept. of Newborn Intensive Care Unit, Ankara, Turkey
Ferit Kulali
Etlik Zubeyde Hanım Training and Research Hospital, Dept. of Newborn Intensive Care Unit, Ankara, Turkey
Osman Yilmaz
Etlik Zubeyde Hanım Training and Research Hospital, Dept. of Newborn Intensive Care Unit, Ankara, Turkey
Ahmet Yagmur Bas
Etlik Zubeyde Hanım Training and Research Hospital, Dept. of Newborn Intensive Care Unit, Ankara, Turkey
Nihal Demirel
Etlik Zubeyde Hanım Training and Research Hospital, Dept. of Newborn Intensive Care Unit, Ankara, Turkey

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.

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How to Cite
Kale, Y. ., Celik, I. H., Kulali, F. ., Yilmaz, O. ., Bas, A. Y., & Demirel, N. . (2016). A case of zellweger syndrome accompanied by hypertrophic cardiomyopathy. Medical Science and Discovery, 3(5), 242–244. Retrieved from https://medscidiscovery.com/index.php/msd/article/view/159
Issue
Vol. 3 No. 5 (2016): Medical Science and Discovery
Section
Case Reports

https://creativecommons.org/licenses/by-nc/4.0/

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