A Case Report of Zellweger Syndrome with a de Novo Mutation from Azerbaijan
Sarkhan Elbayiyev
, Narmin Rustamqizi, Sevinj Mukhtarova
Azerbaijan Medical University, Neonatology Of Educational-surgery Clinic, Baku, Azerbaijan
Keywords: Zellweger syndrome, neonate, peroxisome
Abstract
Zellweger syndrome (ZS) is a rare autosomal recessive disorder characterized by the absence or malfunction of peroxisomes in cells, leading to a variety of metabolic problems. We present a female neonate who was admitted to the neonatal intensive care unit on the second day of life due to poor feeding and lethargy and was found to have hypotonia, a poor sucking reflex, and facial dysmorphism. Based on the clinical symptoms, biochemical tests, and genetic analysis, a diagnosis of neonatal ZS was reached. Biochemical testing showed high levels of very long-chain fatty acids, characteristic of peroxisomal diseases. Genetic testing revealed abnormalities in the PEX genes, confirming the ZS diagnosis. Unfortunately, our patient died within the second month of life.
Cite this article as: Elbayiyev S, Rustamqizi N, Mukhtarova S. A Case Report of Zellweger Syndrome with a de Novo Mutation from Azerbaijan. Pediatr Acad Case Rep. 2025;4(1):8-11.
The parents’ of this patient consent was obtained for this study.
The authors declared no conflicts of interest with respect to authorship and/or publication of the article.
The authors received no financial support for the research and/or publication of this article.