# Diagnosis and Management of Keppen-Lubinsky Syndrome in a Lebanese Infant: A Case Report

## TL;DR

A rare genetic disorder called Keppen-Lubinsky Syndrome is diagnosed in a young Lebanese infant using whole exome sequencing.

## Contribution

This case report highlights the role of whole exome sequencing in diagnosing rare genetic syndromes and discusses the challenges of managing channelopathy-related epilepsy.

## Key findings

- A pathogenic variant in the KCNJ6 gene was identified in a five-month-old infant with infantile spasms and hypotonia.
- The case confirms the diagnosis of Keppen-Lubinsky Syndrome and emphasizes the importance of genetic testing in rare syndromes.
- The prognosis for KPLBS remains poor despite therapeutic interventions.

## 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.