Günay EKBERLİ, Sevgin TANER, Esra IŞIK, Türkan TURKUT TAN
The Journal of Pediatric Research - 2026;13(3):314-317
Ochoa syndrome is a rare disorder characterized by abnormal facial expression and severe lower urinary tract dysfunction. We report a two-year-old girl with recurrent urinary tract infections and a novel homozygous HPSE2 exon 5-11 deletion. Early recognition and timely intervention are essential in order to prevent renal damage and improve clinical outcomes.
