Publication: Zellweger Syndrome: A Case Report
Date
2024
Journal Title
Journal ISSN
Volume Title
Publisher
Nepal Medical Association
Abstract
Abstract
Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney. Common clinical presentations include hypotonia, seizure, hepatomegaly, craniofacial dysmorphism and early death. Mutation in one of the PEX genes coding for a peroxisome assembly protein creates a functionally incompetent organelle causing accumulation of very long chain fatty acids in various organs. Here we report the case of a 5-month-old male presented at birth with hypotonia, poor feeding, gross congenital anomalies and later during early infancy with failure to thrive, several episodes of seizures, aspiration due to feeding difficulties and recurrent severe pneumonia. A whole genomic sequencing brought us to the final diagnosis of Zellweger syndrome. Despite an absence of treatment options, prompt diagnosis of Zellweger syndrome is important for providing appropriate symptomatic care, definitive genetic testing and prenatal counselling.
Description
Authors
Prajwala Yogi
Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
Chunauti Bahik
Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
Rahul Yadav
Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
Puja Bhattarai
Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
Rakshya Pandey
Sindhuli Hospital, Kamalamai, Sindhuli, Nepal
Sunil Raja Manandar
Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal