Publication: Zellweger Syndrome: A Case Report
| creativeworkseries.issn | JNMA Print ISSN: 0028-2715; Online ISSN: 1815-672X | |
| dc.contributor.author | Yogi, Prajwala | |
| dc.contributor.author | Bahik, Chunauti | |
| dc.contributor.author | Yadav, Rahul | |
| dc.contributor.author | Bhattarai, Puja | |
| dc.contributor.author | Pandey, Rakshya | |
| dc.contributor.author | Manandar, Sunil Raja | |
| dc.date.accessioned | 2025-08-17T10:23:01Z | |
| dc.date.available | 2025-08-17T10:23:01Z | |
| dc.date.issued | 2024 | |
| dc.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 | |
| dc.description.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. | |
| dc.identifier | https://doi.org/10.31729/jnma.8467 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/1696 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Medical Association | |
| dc.title | Zellweger Syndrome: A Case Report | |
| dc.type | Other | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 157 | |
| oaire.citation.startPage | 155 | |
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