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Diagnosis and Management of Keppen-Lubinsky Syndrome in a Lebanese Infant: A Case Report
1Pediatrics, Faculty of Medical Sciences, Lebanese University, Beirut, LBN.
Abstract:
We report a five-month-old male infant of Lebanese descent who presented with infantile spasms, axial hypotonia, and a distinctive facial gestalt. Whole exome sequencing (WES) identified a heterozygous pathogenic variant (c.460G>A; p.Gly154Ser) in the KCNJ6 gene, confirming a diagnosis of Keppen-Lubinsky Syndrome (KPLBS). This case underscores the utility of WES in diagnosing rare dysmorphic syndromes, discusses the therapeutic challenges of channelopathy-related epilepsy, and outlines the guarded prognosis associated with KPLBS.
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