Bilateral Life-Threatening Obstructive Cystine Stones in a 19-Month-Old Child Requiring Staged Endourological Management: A Case Report

TL;DR

A 19-month-old child with a rare genetic disorder had life-threatening kidney stones requiring multiple surgeries and long-term care.

Contribution

This case report highlights the management of severe bilateral cystine stones in an infant and emphasizes the importance of staged surgical and metabolic interventions.

Findings

A 22-month-old boy presented with anuric acute kidney injury due to bilateral obstructing cystine stones.

Emergency decompression followed by staged percutaneous nephrolithotomy procedures were necessary for treatment.

The case underscores the need for rapid intervention and long-term metabolic management in infants with cystinuria.

Abstract

Cystinuria is an inherited disorder that can lead to recurrent stone disease with a very early onset and possible devastating effects. Severe presentations in infancy are uncommon but may be life-threatening, particularly when obstruction is bilateral, which can cause acute renal injury and impairment. We report a 22‑month‑old boy who presented with anuric acute kidney injury, severe hyperkalemia, and ventricular tachycardia secondary to bilateral obstructing cystine stones. He initially required emergency decompression, followed by staged percutaneous nephrolithotomy (PCNL) procedures aided by retrograde intrarenal procedures. This case highlights the need for rapid decompression, careful staging of definitive surgery, and long‑term metabolic management in young children with cystinuria.

Figures