ESPN 51th Annual Meeting

ESPN 2018


 
ZINNER´S SYNDROME AND FABRY DISEASE – ONE PATIENT, TWO ENTENTIES
SOFIA HELENA FERREIRA 1 CÉLIA SOUSA 1 SÍLVIA COSTA DIAS 1 ANA TEIXEIRA 2

1- CENTRO HOSPITALAR DE SãO JOãO
2- CENTRO MATERNO-INFANTIL DO NORTE, CENTRO HOSPITALAR UNIVERSITáRIO DO PORTO
 
Introduction:

syndrome is a rare condition. It comprises a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction.

Material and methods:

We report a clinical case.

Results:

We present a 17 year-old-male, with unremarkable past medical and family history, admitted in nephrology department after the diagnosis of Fabry disease. He was asymptomatic and physical examination was unremarkable. During follow up, laboratory tests revealed normal renal function and absence of proteinuria. He performed an abdominal ultrasound, which showed nonvisualization of the right kidney, suggesting right renal agenesis, compensatory hypertrophy of the left kidney and a multi-cystic lesion of the right seminal vesicle, measuring 71x23x50cm. The radiological assessment was completed by pelvic MRI, revealing right renal agenesis and the presence of a large multiloculated cystic lesion in the region of the right seminal vesicle, appearing hyperintense on T1 and T2-weighted images, measuring about 74x56x56mm. In continuity with the seminal vesicle, was also identified a dilated tortuous tubular structure coursing upward into the abdomen from the pelvis along the right iliac vessels, suggesting an ectopic ureter with drainage in the seminal vesicle. No dilatation of the homolateral vas deferens was seen. Although no clinical symptoms were present, the association between renal agenesis and ipsilateral seminal vesicle cyst was suggestive of Zinners syndrome.

Conclusions:

The case presented is illustrative of Zinners syndrome, in which the mutual embryological origin of seminal vesicle and ureteral bud result in both anomalous genital and urinary tracts. As seen in our patient, most patients remain asymptomatic until the third or fourth decade of life. Imaging enables accurate diagnosis of this rare anomaly, facilitating the early diagnosis of this entity. There is no other description of the association of Fabry disease and Zinner’s syndrome in the literature. Concomitant follow-up, screening and genetic counselling during adolescence and adult life are advisable.