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. Methods: From January 2016 to January 2021, three patients (patients 1, 2, and 3) with symptomatic ZS, aged 2, 15, and 17 years, respectively, were diagnosed and treated. All three patients were symptomatic, manifesting pelvic pain and dysuria. The diagnosis was made by physical examination, ultrasonography, and abdominopelvic MRI. Patient 1 underwent open surgery, while for patients 2 and 3, laparoscopic excision was performed. Results: The renal agenesis regarded the left side in patients 1 and 3, and the right side in patient 2. In all cases, the cystic complex was excised. The mean operating time was 4 h and the mean hospitalization time was 5 days (range 4-6 days). The mean follow-up period was 5 years (range 2-5 years). Patients 1 and 3 showed a complete resolution of the symptoms during postoperative follow-up. In patient 2, clinical symptoms relapsed because of the persistence of a 9 mm cyst requiring a redo laparoscopic excision. Conclusions: Seminal vesicle cyst with ipsilateral renal agenesis, even if rare in pediatric age, should be suspected in young male patients presenting with pelvic cystic masses, pelvic pain, dysuria, and ipsilateral renal absence. Conservative management should be reversed to asymptomatic patients. Surgical treatment is mandatory in symptomatic cases and the preferred approach is minimally invasive surgery to magnify the operating field to spare anatomical structures, primarily the contralateral vas deferens. Radicality is crucial to avoid the persistence of symptoms and the need for reintervention.

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. Furthermore, a 10-year review of the SST literature was completed. Three cases of SST at our institution were outlined. After reviewing the literature, 18 SST cases were identified. The mean age at diagnosis was 13.4 years, and the reported clinical presentations were abdominal or pelvic pain and menstrual irregularity. Seven patients had abnormal hormone tests or CA-125 levels. In approximately 30% of cases, conservative surgery was performed, preserving residual ovarian tissue. In conclusion, some preoperative findings may help in suggesting the presence of SST. However, definitive diagnosis can only be made by histopathological examination. It is important to consider this tumor because, given its benign behavior, a conservative approach is preferred, particularly in this age group.

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. High-frequency (4-12 MHz) linear or convex probes are used in newborns; high-frequency linear probes (4-12 MHz) in toddler, convex 5-7.5 MHz probes in girls and convex 3.5-5 MHz probes in teenagers. In this article, the main pathological conditions of the genital female tract in pediatric age are examined, such as congenital anomalies, disorders of sex development, ovarian cysts, ovarian tumors, adnexal torsion, primary amenorrhea, precocious puberty and pelvic inflammatory disease.

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. Ultrasonography is pivotal to elucidate the anatomical origin of these conditions and make the diagnosis. Magnetic resonance imaging can be relevant to improve diagnostic confidence and, if needed, to plan more accurate surgical treatment. The aim of this pictorial essay is to review the related imaging findings to help make radiologists familiar with these conditions.

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. CASE REPORT: A 15-year-old girl presented to the Pediatric Emergency Department for a history of continuous 2-day duration of low back pain and transient paresthesia of the right gluteal area. Low back pain was diagnosed and nonsteroidal anti-inflammatory treatment combined with rest were prescribed. After 7 days, worsening of the clinical conditions was observed with bilateral gluteus paresthesia. A corset was recommended, and magnetic resonance imaging (MRI) and rheumatological evaluation were prescribed on an outpatient basis. After 5 days she was hospitalized due to urinary incontinence and persistence of pain. Blood tests revealed neutrophil leukocytosis associated with mild anemia, thrombocytopenia, hyperuricemia, and increased lactate dehydrogenase. MRI examination of the spine demonstrated a mass involving the sacral canal and the presacral region, extending through the sacral foramina, along the nerve roots. Similar tissue was found at multiple levels in the spine and in the right orbit. Bone marrow aspiration and biopsy highlighted the presence of myeloid blasts and myeloid dysplasia, consequently, myeloid sarcoma was diagnosed. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Our case demonstrates the importance of prompt identification of diagnostic "red flags" in childhood low back pain, indicating the need for diagnostic investigations such as MRI and blood tests.

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.

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. Distribution of microliths (focal or diffuse) inside the parenchyma was evaluated as well as its eventual variation over time. Every six months, each patient underwent clinical and ultrasonography evaluation, as well as serum chemistry markers (α-fetoprotein and ß-human chorionic gonadotropin) measurement to detect potential malignancy. In the interval between the follow-ups, parents and/or patients themselves were asked to control eventual enlargement of the gonads or scrotal swelling. Testicular biopsy was not performed in any of our subjects. RESULTS: Of 21 patients, 6 had unilateral undescended testis, 4 varicocele, and 1 patent processus vaginalis with scrotal swelling while 10 patients did not show associated anomalies. The distribution pattern of microliths on ultrasonography remained unchanged in all follow-ups in every patient, showing a predominance of diffuse pattern in the undescended testis series. Tumor markers remained within normal limits. In no subject, we observed a shift toward a malignant condition. CONCLUSION: In the pediatric population with an incidentally diagnosed TM and without any associated risk factor, a slight follow-up is suggested, consisting of clinical evaluation every 6 months, without any justifiable recommendation to perform a testis biopsy and a measurement of serum tumor markers.

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. Intense cortico-medullary hyperechogenicity and increased homogeneous radiopacity of normal-sized kidneys suggested the diagnosis of SO. Skeletal survey showed osteopenia and characteristic symmetrical metaphyseal transverse bands in long bones, progressively becoming more dense and migrating towards the diaphysis. Multiple pathological and slowly healing fractures of the limbs occurred at the dense band level. A radiopaque rim was then observed in flat bones, epiphyseal nuclei, and vertebral bodies. Inflammatory granulomatous reaction, induced by the presence of oxalate crystals in the marrow spaces, coexisted with progressively evident radiological signs of secondary hyperparathyroidism, with partially overlapping features. The patient was treated by peritoneal dialysis and hemodialysis until combined liver-kidney transplantation. There are no previous reports of infants treated with hemodialysis for more than 2 years.

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. OBJECTIVE: To highlight the imaging diagnostic clues in this rare condition. MATERIALS AND METHODS: We report on 11 adolescents with this condition. RESULTS: Sonography 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. CONCLUSION: Early 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.

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. MATERIALS AND METHODS: We evaluated three children, age 2-4 years, with PPB. RESULTS: One patient presented with unresolving pneumothorax and a multicystic mass, another with a mixed fluid/solid lesion, and the last with a solid heterogeneous mass. CONCLUSION: Despite its rarity, PPB should be considered in the evaluation of cystic or solid masses in children with respiratory distress. Plain film radiography alone is unable to distinguish between PPB and cystic malformations. CT represents the gold standard, although MRI can show the imaging features of solid enhancing nodules inside fluid-filled cavities, a mass causing lung compression, mediastinal shift, frequent pleural effusion, and no chest wall invasion. No preoperative imaging can reliably differentiate between congenital cystic lesions and PPB type I.

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, 0.2-17.2 years of age) underwent evaluation of thyroid function by means of thyroid-stimulating hormone (TSH), fT3, and fT4 measurement. Thyroid ultrasonography was performed in 37 patients. Thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in all patients with abnormal thyroid function tests. RESULTS: None of our patients had overt hypothyroidism; 29 patients (31.5%) had subclinical hypothyroidism. Thyroid antibodies were absent in all patients. The prevalence of patients with subclinical hypothyroidism was significantly higher in the younger patients. Ultrasonography revealed morphological or volumetric abnormalities of the thyroid gland in 67.5% of patients; these abnormalities were more frequently observed in the older children. CONCLUSIONS: Subclinical hypothyroidism is a frequent but stable finding in young children with WS. The great majority of patients with WS >10 years, either with normal or hypoplastic thyroid, have normal thyroid function. Therefore, we suggest yearly monitoring of thyroid function and sonographic studies at least once in patients with WS. Treatment should be reserved for the patients with overt hypothyroidism or for those whose thyroid function shows signs of progressive deterioration.

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.

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 Pearson's 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.

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). 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.