Cystinuria is a rare genetic disorder characterized by the excessive excretion of cystine, leading to recurrent stone formation. In pediatric patients, the management of cystine stones presents unique challenges due to the frequent need for intervention and its association with chronic kidney disease (CKD). Minimally invasive surgical techniques have significant advantages in addressing these challenges.

A 4-year-old girl from Manila, Philippines, presented to the outpatient department with persistent abdominal pain, spontaneous passage of stones, and microscopic hematuria. Initial evaluations by a private pediatrician confirmed nephrolithiasis, prompting referral to a tertiary care institution where a CT scan revealed nephrolithiasis, ureterolithiasis, and cystolithiasis. Following surgical consultation, the patient was admitted for intervention.

The patient underwent a series of interventions to effectively address the extensive stone burden. Initially, she underwent cystoscopy, double J stent insertion, retrograde pyelogram, cystolithotomy, and percutaneous tube nephrostomy to manage immediate complications and facilitate drainage. Subsequently, the patient underwent a super-mini percutaneous nephrolithotomy (PCNL) to fragment and remove the staghorn calculus. During this procedure, holmium laser lithotripsy was utilized for cystine stone fragmentation; however, it presented challenges due to the in vivo production of hydrogen sulfide (H2S) gas. This led to the formation of cloudy white, hydrophobic bubbles that obscured stone fragments and complicated the surgical field. Following the initial PCNL, a second-stage super-mini PCNL was performed to address residual stones. Finally, the patient underwent ureteroscopy with intra-corporeal laser lithotripsy (ICL) combined with another super-mini PCNL to ensure complete stone clearance.

This case underscores the complexities involved in managing pediatric cystinuria presenting with extensive urolithiasis, including staghorn calculus, ureterolithiasis, and cystolithiasis. The successful surgical interventions highlight the necessity of a multidisciplinary approach that integrates advanced techniques such as holmium laser lithotripsy and super-mini percutaneous nephrolithotomy. However, the challenges posed by hydrogen sulfide production during laser fragmentation emphasize the need for careful monitoring and management during procedures. Comprehensive postoperative care, including medical management to prevent stone recurrence, is essential for ensuring long-term patient outcomes. This case illustrates the importance of tailoring surgical strategies to address both immediate challenges and the underlying metabolic disorder in pediatric patients.