Browsing by Author "SK, Md Habibullah"
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Publication ARID1A-Associated Coffin-Siris Syndrome: A Rare Case Report with Steroid-Resistant Nephrotic Syndrome and Single Kidney(Perinatal Society of Nepal (PESON), 2024) SK, Md Habibullah; Naj, MohsinaAbstract: Coffin-Siris syndrome (CSS), a rare BAFopathy, is characterized by developmental delay, dysmorphic features, and variable anomalies. We report a 12-year-old boy with a novel ARID1A truncating mutation presenting with global developmental delay, facial dysmorphism, single kidney, and steroid-resistant nephrotic syndrome (SRNS). Genetic analysis confirmed a heterozygous p.Glu1017Ter mutation in ARID1A. This report expands the phenotypic spectrum of CSS by highlighting its association with glomerular disease, a previously unreported feature.Publication Necrotizing Enterocolitis and Anasarca: Unusual Presentation of Multisystem Inflammatory Syndrome in Neonates – A case Report(Nepal Paediatric Society (JNPS), 2024) SK, Md Habibullah; Zamal, Ashadur; BijanAbstract: Multisystem inflammatory syndrome in neonates (MIS-N) is a rare complication of COVID-19, characterized by immune dysregulation leading to various systemic manifestations. We present a case of a preterm neonate with MIS-N who developed necrotizing enterocolitis (NEC) and anasarca. Despite initial challenges in diagnosis, MIS-N was suspected based on clinical presentation and confirmed by laboratory findings, including elevated inflammatory markers and positive SARS-CoV-2 antibodies in the infant and the mother. Management involved immunomodulatory therapy with IVIG and methylprednisolone, resulting in clinical improvement. This case underscores the importance of considering MIS-N in symptomatic neonates born to mothers with a history of COVID-19, particularly in the post-pandemic era.Publication Retrieval of Broken Umbilical Venous Catheter Fragment in a VLBW Neonate(Nepal Paediatric Society (JNPS), 2023) SK, Md Habibullah; Saha, Bijan; Zamal, Ashadur; Saha, SayantanAbstract: Fracture of umbilical venous catheters is a serious uncommon complication. We are reporting a 31+4 week male neonate weighing 1390 gm with a broken umbilical venous catheter and successful retrieval of the catheter by an open surgical technique.