Browsing by Author "Pandey, Rakshya"
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Publication Experiences of Young Doctors Working in Rural Nepal(Nepal Medical Association, 2022) Dahal, Sujata; Khanal, Surendra; Rijal, Swornima; Bhandari, Puja; Pandey, RakshyaAbstract Medical graduates studying on full and partial scholarships are subjected to a mandatory two years of bonding service program to overcome regional inequalities in the distribution of health workers between rural and urban areas. It might be a challenging journey, but it is crucial for the personal and professional growth of young doctors. Working in places distant from home and medical school can also be difficult, especially when the doctors are not adequately trained. During the bond, young graduates are exposed to a variety of clinical and non-clinical circumstances, which can aid in their maturation.Publication Zellweger Syndrome: A Case Report(Nepal Medical Association, 2024) Yogi, Prajwala; Bahik, Chunauti; Yadav, Rahul; Bhattarai, Puja; Pandey, Rakshya; Manandar, Sunil RajaAbstract 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.