A rare cause of neonatal hypotonia in infants; Zellweger syndrome

Ayşe Aysima Özçelik; Peren Perk; Mehmet Keskin; Beltinge DEMİRCİOĞLU KILIÇ; Ercan Sivaslı

doi:10.5578/gmj.32162

Authors

Ayşe Aysima Özçelik Department of Pediatric Neurology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Peren Perk Department of Pediatric Neurology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Mehmet Keskin Division of Pediatric Endocrinology and Metabolism, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Beltinge DEMİRCİOĞLU KILIÇ Department of Pediatric Nephrology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey
Ercan Sivaslı Division of Neonatology, Faculty of Medicine, Gaziantep University, Gaziantep, Turkey

DOI:

https://doi.org/10.5578/gmj.32162

Keywords:

Zellweger syndrome, hypotonia, neonate, peroxisomal disorders

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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