A Case Report of an Infant with De Barsy Syndrome with Intractable Seizures and Severe Gastro-Esophageal Reflux

Background/Purpose: De Barsy Syndrome (DBS) is an extremely rare autosomal recessive disorder characterized by progeroid features, cutis laxa, ophthalmologic anomalies, and neurological impairments.[1] Fewer than 50 cases have been reported worldwide. The genetic basis often involves mutations in the PYCR1, ALDH18A1, or ATP6V0A2 genes, which are associated with mitochondrial dysfunction and impaired connective tissue formation.[2]