Zinner syndrome in pediatric patients: rare disease leading to challenging management.

Introduction: Zinner syndrome (ZS) is the association of seminal vesicle cysts, ipsilateral ejaculatory duct obstruction, and ipsilateral renal agenesis. This condition is very rare in children and both diagnosis and treatment may be challenging. We reviewed the clinical presentation and treatment describing our experience with a series of three patients.

A Rare Ovarian Tumor: The Sclerosing Stromal You Do Not Expect-A Case Series in the Adolescent Population and a Literature Review.

Sclerosing stromal tumor (SST) is a rare ovarian tumor arising from the sex cord-stromal cells that occurs mainly in young adults during the second and third decades of life and rarely in pediatric and adolescent populations. The objective of this study is to report three illustrative cases of SST in young girls who had undergone surgery at our clinic in or after 2009, and to perform a literature review of this rare ovarian tumor. A retrospective chart review of female patients aged <18 years with a diagnosis of SST treated in a tertiary pediatric hospital was performed.

Ultrasonographic and multimodal imaging of pediatric genital female diseases.

Ultrasonography is the first-line imaging modality in the evaluation of the female pelvis in childhood and adolescence, because it is easy to perform, non-invasive and it does not require sedation. The transabdominal approach is preferred in children and adolescents, after filling the bladder to move away the bowel loops from the pelvis. The probe frequency must be adapted to age, thickness of tissues and depth of the structures under examination.

Imaging of diseases of the vagina and external genitalia in children.

A wide range of congenital or acquired conditions, some pretty rare, may affect the vulva and vagina in children. Swelling, visible or palpable masses and abnormal discharges are common symptoms of conditions affecting the vulva and/or the lower genital tract. The majority of these diseases are benign.

Myeloid Sarcoma Presenting as Low Back Pain in the Pediatric Emergency Department.

Background: Low back pain is a common symptom in the pediatric population; approximately half of all children present with at least one episode of low back pain. The majority of cases are due to nonspecific causes such as musculoskeletal trauma with spontaneous regression. On some occasions, however, life-threatening diseases have to be considered.

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.

Management and follow-up of pediatric asymptomatic testicular microlithiasis: are we doing it well?

Purpose: To define timing and methods for a balanced follow-up of testicular microlithiasis (TM) in pediatric age.

Materials And Methods: We retrospectively reviewed medical records of 21 pediatric asymptomatic patients (42 testicular units) diagnosed with TM and without associated risk factors. Microliths were found bilaterally on ultrasonography in all the patients.

Oxalosis in primary hyperoxaluria in infancy : Report of a case in a 3-month-old baby. Follow-up for 3 years and review of literature.

Primary hyperoxaluria (PH1) is a rare inborn autosomal recessive metabolic disorder due to the deficiency of hepatic alanine-glyoxylate-aminotransferase. This deficiency results in excessive synthesis and urinary excretion of oxalate, inducing renal stone formation and deposition of calcium oxalate in the kidney, bone, myocardium, and vessels (systemic oxalosis, SO) in the most severely affected individuals. We report renal and skeletal changes in a 3-month-old girl with PH1 and SO.

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

Background: Uterus 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.

Pleuropulmonary blastoma, a distinctive neoplasm of childhood: report of three cases.

Background: Pleuropulmonary blastoma (PPB) is a rare, aggressive dysontogenetic neoplasm affecting children. It was identified as a distinct entity by Manivel in 1988 and later subdivided into three types on the basis of the histological pattern, with increasing malignancy from type I (cystic) through type II (solid/cystic) to type III (solid).

Objective: To report on the imaging findings, clinical presentation, and differential diagnosis, mainly cystic malformations.

Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndrome.

Objective: To verify the prevalence of morpho-volumetric and functional thyroid abnormalities in young patients with Williams syndrome (WS).

Study Design: Ninety-two patients with WS (49 boys and 43 girls, 0.2-17.

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).

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.

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

Unlabelled: 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).