European Journal of Therapeutics
Case Report

A rare cause of neonatal hypotonia in infants; Zellweger syndrome

1.

Department of Pediatric Neurology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey

2.

Division of Pediatric Endocrinology and Metabolism, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey

3.

Department of Pediatric Nephrology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey

4.

Division of Neonatology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey

Eur J Ther 2016; 22: 109-112
DOI: 10.5578/GMJ.32162
Read: 521 Downloads: 349 Published: 03 September 2019

Abstract

The list of disorders that may present with neonatal hypotonia is long, and the diagnostic process often is complex. Knowledge of the relative frequency of disorders that present with significant neonatal hypotonia will help in the selection of appropriate investigations. modality. Zellweger Syndrome (Cerebrohepatorenal Syndrome) is an autosomal recessive inherited disorder and characterized by lack or absence of peroxisomes in brain, kidneys and liver cells. Dysmorphic signs usually accompany to this syndrome. In this case report, we would like to remind a rare reason, Zellweger syndrome, when searching etiologic factors in hyptonic infant with dysmorphic signs.

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EISSN 2564-7040