Cinzia Orazi

Herlyn-Werner-Wunderlich syndrome: uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Sonographic and MR findings in 11 cases

BackgroundUterus didelphys with obstructed hemivagina and ipsilateral renal agenesis is a rare entity, sometimes referred to as Herlyn-Werner-Wunderlich syndrome (HWW). It usually presents after menarche with progressive pelvic pain, sometimes with regular menses, and a palpable mass due to hemihaematocolpos. The diagnosis is generally made only if the suspicion of this genitourinary syndrome is raised.ObjectiveTo highlight the imaging diagnostic clues in this rare condition.Materials and methodsWe report on 11 adolescents with this condition.ResultsSonography mostly allowed the correct diagnosis by showing uterovaginal duplication, haematocolpos or haematometrocolpos, and the absence of the ipsilateral kidney. MRI provided more detailed information regarding uterine morphology, the continuity with each vaginal channel (obstructed and nonobstructed), and the bloody nature of the contents.ConclusionEarly and accurate diagnosis of this syndrome is important so that adequate and prompt surgical therapy (excision of the vaginal septum) can provide relief of pain and prevent further complications. It is also advisable to look for an obstructed Müllerian system whenever a multicystic dysplastic kidney or the absence of a kidney is discovered in a fetus, or girl postnatally.

Isolated tubal torsion: a rare cause of pelvic pain at menarche. Sonographic and MR findings

Isolated torsion of the fallopian tube is a rare clinical entity, especially in adolescents and at menarche. The diagnosis is essentially made at laparoscopy or at laparotomy because of nonspecific clinical signs. We present a case of isolated tubal torsion in a 12-year-old girl a few days after menarche, highlighting the sonographic and MR findings. Both techniques demonstrated the enlarged and tortuous fallopian tube with normal ovaries and uterus, but MR was also able to characterize contained blood and absent vascular supply. Although this condition is uncommon it should be considered as a cause of acute pelvic pain in adolescents because of the possibility of salvage surgery with early diagnosis. Sonography and MRI have a complementary role in this diagnosis.

Abdominoscrotal hydrocele in childhood : report of four cases and review of the literature

Abdominoscrotal hydrocele is rare in adults and almost exceptional in children. The abdominal extension of the fluid collection may be properitoneal or retroperitoneal, and the processus vaginalis may be patent or obliterated. The pathogenesis is unclear. Pressure alone cannot explain this phenomenon, but may coexist with a preformed abnormality of the tunica vaginalis. The diagnosis should be suspected in the presence of a large hydrocele associated with an ipsilateral abdominal mass. Ultrasonography confirms the diagnosis with no need of other investigations. Complete surgical excision is preferable.

Postaxial acrofacial dysostosis or Miller syndrome. A case report.

A case of postaxial acrofacial dysostosis (Miller syndrome) is presented. This rare syndrome is essentially characterized by a Treacher — Collins-like facial appearance together with absence of the fifth digital ray of all limbs and variable forearm hypoplasia.

Reliability of bladder volume measurement with BladderScan® in paediatric patients

Objective. To evaluate the reliability of estimates of bladder volume (BV) in children made with the BladderScan® BVI 2500 (BS) and their agreement with standard ultrasound (US) measurements. Material and methods. BV was measured using both US and BS in 92 children (41 females, 51 males; age range 3 months to 16 years) who underwent standard US measurements for various reasons. Patients were stratified into three groups according to age (3–35, 36–83 and >83 months) and BV (<20%, 20–50% and >50% of expected bladder capacity for age). US and BS measurements were compared by means of the percentage difference and Pearsons correlation coefficient (r); limits of clinical agreement were evaluated by means of Bland–Altman analysis. Results. Overall, a difference of −12.9% and a correlation coefficient of r=0.98 were found between US and BS. The percentage difference was higher in younger patients (−27.8%) and for low volumes (−24.8%). Correlation analysis confirmed this trend in different age (3–35 months, r=0.74; 36–83 months, r=0.93; >83 months, r=0.97) and BV (<20%, r=0.70; 20–50%, r=0.94; >50%, r=0.97) groups. Bland–Altman analysis showed large limits of clinical agreement between the two methods in terms of overall measurements (−45 to 29.3 ml) and in both age (−25.3 to 56.9 ml) and BV (−27.5 to 52.5 ml) groups. Conclusions. A good correlation between US and BS measurements of BV was found in children aged >7 years and in those with a BV >20% of expected bladder capacity. Thus, BS avoids the need for standard US equipment to assess BV for schoolchildren with voiding dysfunction. Nevertheless, a dedicated BS instrument should be used in younger children.

Ullrich-Turner Syndrome and Tumor Risk: Is There Another Chance to Early Gonadectomy in Positive TSPY and SRY Patients?

The presence of the Y chromosome in the karyotype of patients with disorders of sex differentiation is significantly associated with an increased risk to develop specific types of malignancies, predominantly type II germ cell tumors (GCTs). Gonadoblastoma in the gonads without an obvious testicular differentiation and intratubular germ cell neoplasia of unclassified type in testicular tissue are the precursor lesions of most GCTs. Gonadal dysgenesis, the characteristic feature of Ullrich-Turner syndrome (UTS), further contributes to increase this tumor risk. The reported incidence of Y chromosome material in UTS is 6 to 8% and in these cases an early gonadectomy is strongly recommended to prevent the risk of a malignancy. The aim of this work was to retrospectively analyze the clinical outcome and the histopathological and cytogenetic findings of our UTS patients who underwent gonadectomy to establish strict selection criteria aimed at promoting an organ-sparing surgery.

Sonographic biometry of liver and spleen size long after closure of abdominal wall defects

Little is known about the fate of the liver and spleen after closure of the abdominal cavity in patients with abdominal wall defects (AWD). Therefore, counselling families for long-term follow-up and in the case of surgery for acute disease, pregnancy or trauma may be difficult. A total of 18 patients ranging in age from 7 to 18 years, with AWD closed at birth, underwent ultrasound evaluation of liver and spleen size by determination of the index of liver size (ILS) and splenic volume (SV). These values were then correlated with some anthropometric parameters such as body mass index (BMI) and weight; correlation was also sought with some clinical features such as type of defect and direct or staged closure. Nearly all subjects exhibited weight above and BMI below the 50th percentile for age. ILS and SV were significantly above normal limits in all cases and no difference was found with regard to the type of defect. Conclusion:in patients having undergone surgery for abdominal wall defects, liver and spleen usually regain their normal shape and position even though size and volume appear to be larger than in normal controls.

Lymphangioma of the scrotum in a pediatric patient: Ultrasound and magnetic-resonance findings

Lymphangiomas are unusual benign neoplasms originating from the lymphatic system that are rarely found in the scrotal area. Ultrasound and magnetic resonance findings in a 4-year-old boy with a scrotal lymphangioma are presented. There was no recurrence after surgical excision.

Giant appendicolith causing severe lameness in a child

An 8-year-old girl presented with a 1 year history of intermittent abdominal pain in the right lower quadrant of the abdomen associated with lameness that, in the last 3 months, had forced the patient into a wheelchair. Blood tests were normal. Ultrasonography (US) of the abdomen showed an appendicolith measuring 2.5 cm (Fig. 1a), confirmed on X-ray of the hip and pelvis (Fig. 1b) and on computed tomography (CT; Fig. 1c). Trans-umbilical laparoscopic appendectomy was successful and the patient was well at follow up. Previous abdominal US (Fig. 2a) and X-ray of the legs (Fig. 2b,c), performed 1 year before, were judged normal, but on re-analysis the stone was identified (Fig. 2). This was probably due to the fact that on the first plain radiograph a lead plate obscured the stone, while the US was focused mainly on the right hip in order to explain the lameness. The stone had not increased in size (Fig. 3). a b c

Posterior Urethral Valves

Posterior urethral valves (PUVs) represent the most common cause of lower urinary tract obstruction in males, with incidence ranging from 1:5.000 to 1:8.000 live births, according to most of the series. PUVs represent a congenital phenomenon mostly occurring sporadically and consist of abnormal mucosal folds between the urethral wall and the distal end of the verumontanum, presenting with a spectrum of severity, from mild to lethal forms, depending on the degree of obstruction. Nowadays, with the widespread use of prenatal ultrasonography and increasing awareness, PUVs are most frequently detected during routine prenatal ultrasound. Newborns may present with delayed voiding or poor urinary stream, abdominal mass, urinary tract infections, poor feeding, and failure to thrive. Ultrasound is the primary imaging method and shows thickened, trabeculated bladder walls and an elongated dilated posterior urethra, with the so-called keyhole sign due to the distention of both the bladder and the posterior urethra, immediately proximal to the obstructing valves, and uni- or bilateral dilatation of the renal pelvis and dilatation and tortuosity of the ureters. Ascites and perirenal urinoma may represent spontaneous forms of urinary tract decompression. Voiding cystourethrography (VCUG) is the only direct means of diagnosing PUVs, before cystoscopic evaluation. VCUG demonstrates dilatation and elongation of the posterior urethra, thickened bladder walls with sacculations, trabeculations, and diverticula. VCUG also identifies preobstructive secondary changes in the urinary tract and detects and grades vesicoureteral reflux (VUR). Urodynamic and radionuclide studies may be helpful in the follow-up of these patients.