We report a male neonate, born to consanguineous parents, who presented with respiratory distress and signs of severe intrauterine growth restriction. Clinical findings included bilateral cataracts and left ventricular hypertrophy. Elevated cardiac biomarkers and abnormal fatty acid oxidation metabolites were noted. Despite intensive care, the infant died of cardiac failure at 50 days. Genetic testing revealed a pathogenic frameshift mutation in exon 14 of the AGK gene, confirming Sengers syndrome. This case highlights the importance of early genetic screening in consanguineous families and the need for multidisciplinary management.
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