Author name: premchand271

Background Fellowship programs offer training in a subspecialty focusing on distinct and advanced clinical/academic skills. This advanced postgraduate training allows physicians, who desire a more specialized practice, to further develop clinical, academic, research, and leadership/administrative skills. The Aga Khan University (AKU) is one of the few institutes offering paediatric sub-specialty training in Pakistan. We aimed […]

Objective: To determine the aetiology, clinical presentation and outcome of patients presenting with acute flaccid paralysis. Study Design: Cross-sectional study. Place and Duration of Study: Department of Pediatric Medicine, Agha Khan Hospital, Karachi Pakistan, from Jan 2015 to Dec 2019. Methodology: Medical record of 150 children fulfilling the selection criteria were selected. The clinical presentations

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This is a neurodevelopmental disorder presenting with a neurological and dysmorphic feature including intellectual disability, limb and craniofacial abnormalities. We present a case of TBCK mutation of the variant (p.Gln164),

We read with interest the Article reporting findings of the KIWE trial,1 which compared the ketogenic diet with antiseizure medications in infants with drug-resistant epilepsy. The trial did not show a significant difference between diet and medication in terms of efficacy and tolerability; however, we wish to highlight several concerns.