Zellweger Syndrome: A Case Report.

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. Keywords: case reports; mutation; neonate; Zellweger syndrome.

Neonates Born Through Meconium-stained Amniotic Fluid among Deliveries in a Tertiary Care Centre: A Descriptive Cross-sectional Study.

Introduction: The mortality and morbidity of meconium aspiration syndrome in neonates born with meconium-stained amniotic fluid in developing countries are still high. In Nepal, few studies have estimated the prevalence of meconium-stained amniotic fluid among newborns. The study aimed to find out the prevalence of neonates born through meconium-stained amniotic fluid among deliveries in a tertiary care centre. Methods: This descriptive cross-sectional study was conducted among neonates born in a tertiary care centre from November 2021 to March 2022. Neonates born during the study period with meconium-stained amniotic fluid were studied. Ethical approval was obtained from the Institutional Review Committee. Convenience sampling method was used. With permission from the Department of the Neonatal Intensive Care Unit, the data were collected and entered in a Microsoft Excel sheet. Point estimate and 95% Confidence Interval were calculated. Results: Among 576 neonates, the prevalence of neonates born through meconium-stained amniotic fluid was 77 (13.37%) (10.59-16.15, 95% Confidence Interval). Conclusions: The prevalence of neonates born through meconium-stained amniotic fluid was found to be similar to other studies done in similar settings. Keywords: meconium; neonate; Nepal.