Browsing by Author "Naj, Mohsina"
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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 Cyclosporine-Induced Alopecia in Childhood Nephrotic Syndrome – A Case Report(Perinatal Society of Nepal (PESON), 2024) Naj, Mohsina; Sk, Md HabibullahAbstract: Drug-induced alopecia, typically presenting as diffuse, non-scarring hair loss, is often reversible upon discontinuation of the offending medication. Cyclosporine A (CsA), an immunosuppressive agent frequently causing hypertrichosis, has been paradoxically reported to induce alopecia in rare cases. We report a 20-month-old girl with steroid-resistant nephrotic syndrome who developed severe alopecia due to a mistakenly taken high dose of cyclosporine. Upon discontinuation of cyclosporine, her hair began to regrow within a week. This case underscores the complexity of drug-induced alopecia and highlights the need for further research into the immune dysregulation associated with alopecia areata.