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An unusual variant of Zinner syndrome with ureteral ectopia from an atrophied supernumerary kidney.

ABSTRACT: This case presents an unusual variation of Zinner syndrome with a patient found to have an ectopic ureteral insertion of the seminal vesicle from a supernumerary pelvic kidney and complete duplication of the ipsilateral, otherwise normal renal unit. The case offers an interesting variant of a previously established syndrome with successful treatment involving robotic resection of an ectopic ureter and seminal vesiculectomy, resulting in resolution of the patient's symptoms.

SUBMITTER: Cooper M

PROVIDER: S-EPMC7171451 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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An unusual variant of Zinner syndrome with ureteral ectopia from an atrophied supernumerary kidney.

Cooper Meghan M Wiegand Lucas L

Urology case reports 20200402

This case presents an unusual variation of Zinner syndrome with a patient found to have an ectopic ureteral insertion of the seminal vesicle from a supernumerary pelvic kidney and complete duplication of the ipsilateral, otherwise normal renal unit. The case offers an interesting variant of a previously established syndrome with successful treatment involving robotic resection of an ectopic ureter and seminal vesiculectomy, resulting in resolution of the patient's symptoms. ...[more]

PMID: 32322509

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Project description:Introductionand importance: Zinner syndrome is a rare congenital malformation of the seminal vesicles and the homolateral upper urinary tract. While the majority of patients remain asymptomatic and are discovered incidentally, others present symptoms such as micturition or ejaculatory difficulties, or pain. We report a case of Zinner syndrome in a 32-year-old patient with painful ejaculation and discuss the diagnosis and treatment difficulties.Case presentationA 32-year-old married patient was consulted for pelvic pain associated with painful ejaculation that had been evolving for six months. The clinical examination was normal. Routine laboratory studies of blood and urine were normal. The patient was explored by ultrasound which showed the absence of the right kidney and the presence of a 7 cm right lateral prostatic cystic mass. On MRI, the right kidney was not visualized. Multiple cysts were seen in the right seminal vesicle. Surgical excision of the cyst by laparotomy was performed. The patient had an uneventful recovery and was discharged on the third postoperative day.Clinical discussionCongenital malformations of the seminal vesicles are often associated with those of the ipsilateral upper urinary tract, as the ureteral and seminal vesicle buds originate from the mesonephric duct. The syndrome often occurs in the second and third decades of life, especially after the onset of sexual activity. The most common symptoms were dysuria, perineal pain, epididymitis, and painful ejaculation. Diagnostic modalities include ultrasound, MRI, and cystoscopy. In patients with symptoms, the therapeutic management of the cyst includes ultrasound-guided aspiration and laparoscopic or open surgical excision.ConclusionSeminal vesicle cysts associated with homolateral renal agenesis or hypoplasia are a rare urologic anomaly. The treatment depends on the patient's symptoms. surgical excision of seminal vesicle cysts may be needed for large cysts causing obstructive symptoms.

Project description:Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequency of PKS may be underestimated due to problems with cytogenetic diagnosis caused by tissue-specific mosaicism and usually a low percentage of peripheral blood cells containing sSMC. Such tissue-specific mosaicism also complicates a detailed analysis of the sSMC, which, along with the assessment of mosaicism in different tissues, is an important part of cytogenetic diagnosis in PKS. Unfortunately, a full-fledged diagnosis in PKS is either practically impossible or complicated. On the one hand, this is due to problems with the biopsy of various tissues (skin biopsy with fibroblast culture is most often used in practice); on the other - a low percentage of dividing peripheral blood cells containing sSMC, which often significantly complicates the analysis of its composition and organization. In the present study, a detailed analysis of sSMC was carried out in a patient with a characteristic clinical picture of PKS. A relatively high percentage of peripheral blood cells with sSMC (50%) made it possible to perform a detailed molecular cytogenetic analysis of de novo sSMC using chromosomal in situ suppression hybridization (CISS-hybridization), multicolor FISH (mFISH), multicolor chromosome banding (MCB), array CGH (aCGH), and quantitative real-time PCR (qPCR), and short tandem repeat (STR) - analysis. As a result, it was found that the sSMC is not a typical PKS derivative of chromosome 12. In contrast to the classical i(12)(p10) for PKS, the patient's cells contained an acrocentric chromosome consisting of 12p material. Clusters of telomeric repeats were found at the both ends of the sSMC. Furthemore, the results of aCGH and qPCR indicate the presence of interstitial 8.9 Mb duplication at 12p13.1-p12.1 within the sSMC, which leads to different representations of DNA from different segments of 12p within cells containing sSMC. The obtained data raise the question of the instability of the sSMC and, as a consequence, the possible presence of additional rearrangements, which, in traditional cytogenetic analysis of patients with PKS, are usually described as i(12)(p10).

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An unusual variant of Zinner syndrome with ureteral ectopia from an atrophied supernumerary kidney.

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An unusual variant of Zinner syndrome with ureteral ectopia from an atrophied supernumerary kidney.

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