# Spontaneous Distal Ureteric Rupture in a Young Patient With Fragile X Syndrome

## TL;DR

A young patient with Fragile X syndrome experienced a rare ureteric rupture due to a kidney stone, requiring urgent medical intervention.

## Contribution

This case highlights a rare complication of distal ureteric rupture in a patient with Fragile X syndrome.

## Key findings

- The patient was diagnosed with left ureteric rupture secondary to a distal ureteric calculus.
- Interventional radiology and nephrostomy improved the patient's condition and led to recovery.
- Fragile X syndrome may be associated with increased vulnerability to such urological complications.

## Abstract

This report describes the case of a patient in her late teens with fragile X syndrome, developmental delay, and recurrent urinary tract infections who presented to the emergency department with a productive cough, weight loss, and being generally unwell over the past few weeks. She was found to have a firm, distended abdomen and, while being investigated for sepsis of unknown source, deteriorated rapidly and was intubated and ventilated in the intensive care unit (ICU). After multiple imaging studies, she was diagnosed with left ureteric rupture secondary to a left distal ureteric calculus, resulting in a urinoma in the left retroperitoneal space. An interventional radiology-guided drain was inserted to drain the urinoma, and a left nephrostomy and anterograde ureteric stent were inserted. Her condition improved after these interventions, and she was later extubated and discharged from the ICU to the general ward.