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Background <p>Branchio-oto-renal syndrome is a rare autosomal dominant disorder characterized by hearing impairment, branchial arch anomalies, preauricular pits, and renal malformations. Although recurrent abdominal pain is not a classic feature, it can arise owing to renal complications such as hydronephrosis.</p> Case presentation <p>An 8-year-old Arab boy with a history of congenital sensorineural hearing loss presented to the emergency department with recurrent right flank pain radiating to the anterior abdomen occurring approximately every 2&#xa0;weeks over 4&#xa0;months. Previous treatments for suspected irritable bowel syndrome and enteritis were ineffective. Physical examination revealed a significant left preauricular pit and right costovertebral angle tenderness; no branchial fistula or external ear deformities were noted. Urinalysis showed moderate proteinuria, marked pyuria, and microscopic hematuria. Renal ultrasound revealed mild-to-moderate bilateral hydronephrosis, hypoechoic areas, mild pelvicalyceal dilatation, and early cystic changes, supporting the diagnosis of branchio-oto-renal syndrome. The patient was started on empirical intravenous antibiotics, and a urine culture was obtained; laboratory tests 48–72&#xa0;hours after antibiotic initiation showed partial improvement in inflammatory markers and urinary sediment findings. However, serum creatinine remained mildly elevated (1.10&#xa0;mg/dL), flank pain persisted, and renal ultrasound findings supported a congenital or obstructive renal anomaly. Further ear, nose, and throat and urologic evaluation were recommended; the patient was subsequently lost to follow-up.</p> Conclusion <p>In children with congenital hearing loss, recurrent abdominal/flank pain should prompt renal evaluation and consideration of syndromic diagnoses such as branchio-oto-renal syndrome. Early systemic screening and genetic counseling are advised.</p>

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Recurrent abdominal pain as a leading symptom for branchio-oto-renal syndrome: a case report

  • 期刊论文

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  • 发表日期：

    2026年3月31日

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  • Alaa Senjab,
  • Omar Al Ayoubi,
  • Grace Tannous,
  • Yaman Alsharef

摘要

Background

Branchio-oto-renal syndrome is a rare autosomal dominant disorder characterized by hearing impairment, branchial arch anomalies, preauricular pits, and renal malformations. Although recurrent abdominal pain is not a classic feature, it can arise owing to renal complications such as hydronephrosis.

Case presentation

An 8-year-old Arab boy with a history of congenital sensorineural hearing loss presented to the emergency department with recurrent right flank pain radiating to the anterior abdomen occurring approximately every 2 weeks over 4 months. Previous treatments for suspected irritable bowel syndrome and enteritis were ineffective. Physical examination revealed a significant left preauricular pit and right costovertebral angle tenderness; no branchial fistula or external ear deformities were noted. Urinalysis showed moderate proteinuria, marked pyuria, and microscopic hematuria. Renal ultrasound revealed mild-to-moderate bilateral hydronephrosis, hypoechoic areas, mild pelvicalyceal dilatation, and early cystic changes, supporting the diagnosis of branchio-oto-renal syndrome. The patient was started on empirical intravenous antibiotics, and a urine culture was obtained; laboratory tests 48–72 hours after antibiotic initiation showed partial improvement in inflammatory markers and urinary sediment findings. However, serum creatinine remained mildly elevated (1.10 mg/dL), flank pain persisted, and renal ultrasound findings supported a congenital or obstructive renal anomaly. Further ear, nose, and throat and urologic evaluation were recommended; the patient was subsequently lost to follow-up.

Conclusion

In children with congenital hearing loss, recurrent abdominal/flank pain should prompt renal evaluation and consideration of syndromic diagnoses such as branchio-oto-renal syndrome. Early systemic screening and genetic counseling are advised.