De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

Although rare, 3p microdeletion cases have been well described in the clinical literature. The clinical phenotype includes; intellectual disability (ID), growth retardation, facial dysmorphism, and cardiac malformations. Advances in chromosome microarray (CMA) testing narrowed the 3p25 critical region to a 124 kb region, and recent Whole Exome Sequencing (WES) studies have suggested that the SETD5 gene contributes significantly to the 3p25 phenotype. Loss-of-Function (LoF) variants in SETD5 are now considered a likely cause of ID. We report here a patient with a frameshift LoF variant in exon 12 of SETD5. This patient has features overlapping with other patients described with LoF SETD5 variants to include; similar facial morphology, feeding difficulties, ID, behavioral abnormalities and leg length discrepancy. In addition, he presents with an aberrant blind ending bronchus. This report adds to publications describing intragenic mutations in SETD5 and supports the assertion that de novo LoF mutations in SETD5 present with an overlapping but distinct phenotype in comparison with 3p25 microdeletion syndromes.

Ureteral Stone Associated With a Middle Blind Ending of a Bifid Ureter.

A blind-ending bifid ureter is an anatomic variant of ureteral duplications. There are three forms of blind-ending bifid ureter, classified depending on their location. A proximal blind-ending bifid ureter is the most common subtype of this congenital anomaly. Most patients are asymptomatic and only show symptoms after the complication has occurred. These complications include stone formation, vesicoureteric reflux, and ureteral tumor. Intravenous urography is usually used to diagnose bifid ureter; voiding cystourethrography, photofluoroscopy, cineroentgenography, cystoscopy with retrograde pyelography, computed tomography (CT), multidetector CT, and magnetic resonance urographies are other imaging methods used. This is a case of a ureteral stone associated with a middle blind ending of a bifid ureter.

A blind-ending ureter with infection due to vesicoureteric reflux with associated renal agenesis: A rare cause of pain abdomen.

We report a 12-year-old male child with an unusual cause of abdominal pain, i.e. a blind-ending ureter with vesicoureteral reflux. The pain improved with antibiotic therapy, implying infection as the cause of pain. This entity is difficult to diagnose clinically, thereby affecting management. Usually, a blind-ending ureter is not filled on intravenous urography (IVU) and the diagnosis is confirmed by retrograde pyelography, which is an invasive procedure. We illustrate the contribution of IVU and computerized tomographic cystography, which has not been reported earlier, in the evaluation of such cases.

US and MDCT findings in a caudal blind ending bifid ureter with calculi.

Herein we present a rare ureteric duplication anomaly; blind ending bifid ureter with calculi which is asymptomatic unless complicated by infection, reflux, calculi or malignancy. The diagnosis is often missed at intravenous urography (IVU) and US because the ipsilateral ureter and kidney are grossly normal. In this case the diagnosis was established with ultrasound (US) and mainly with multidetector computerized tomography (MDCT) imaging using multiplanar reformats and 3-D reconstructions which were unique to this case. MDCT scans not only revealed the exact diagnosis and anatomic relationships but also ruled out other pathologies included in the differential diagnosis as well, such as ureter and bladder diverticula.

A Case of Blind Ending Megaureter: Preoperatively suspected of Adnexal Tumor / 대한산부인과학회잡지

A pelvic mass in women may be gynecologic in origin or it may arise from the urinary tract or bowel. Nonovarian or nongynecologic conditions may be confused with uterine or ovarian mass. The rare congenital megaureter should always be kept in mind as a possible cause of a pelvic mass. Congenital megaureter showed various clinicopathological features and frequently associated with ipsilateral or controlateral upper tract anomalies. Early meticulous imaging surgical correction will lead to excellent result. We experienced a rare case of blind ending megaureter which was suspected adnexal tumor in twenty seven-year-old woman. Here we present the case with brief review of literatures.

Two Cases of Blind Ending Duplication of Ureter / 대한비뇨기과학회지

The blind ending duplication of ureter represents a rare anomaly in development of ureteric bud, and may almost be asymptomatic. We report two cases of blind ending duplication of ureter, that were detected incidentally.