Ochoa Syndrome Associated with a Novel HPSE2 Deletion: A Case Report
Makaleler > Tam Makale · 2026
Yazarlar: Günay Ekberli, SEVGİN TANER, Esra IŞIK, Türkan Turkut Tan
The Journal of Pediatric Research, Uluslararası, Scopus, 2026
DOI: 10.4274/jpr.galenos.2026.72368
Özet
Ochoa syndrome is a rare disorder characterized by abnormal facial expression and severe lower urinary tract dysfunction.We report a twoyear-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.