Malignant Phyllodes Tumor in a Pubertal Girl: A Report of a Case.

BACKGROUND: Malignant phyllodes tumor (MPT) is a rare breast disease that is extremely rare in children. A few cases of pediatric malignant phyllodes tumors have been reported, including some with a poor prognosis. CASE: A 14-year-old girl presented with a growing lump on her right breast. On the basis of imaging tests and a core needle biopsy, MPT was diagnosed, and right mastectomy was performed. The postoperative course was uneventful. SUMMARY AND CONCLUSION: MPT is an infrequent disease in adult females and is extremely rare in pubertal females. It occasionally shows rapid growth, metastasis, and recurrence with a poor prognosis. Early surgical resection is necessary to obtain a cure. When a rapidly growing breast tumor is observed in pubertal females, MPT should be considered.

Utility of Positional Instillation of Contrast Cystography for Diagnosing Occult Vesicoureteral Reflux in Children: A Report of Two Cases.

Positional instillation of contrast (PIC) cystography is effective for detecting occult vesicoureteral reflux (VUR), which can not be revealed by standard voiding cystourethrography (VCUG). We experienced two cases of young female patients; one had repeated urinary tract infection with a negative VUR on standard VCUG, and the other had findings suggestive of reflux hydronephrosis and intolerance of standard VCUG. They underwent PIC cystography, and occult VUR was detected in both cases. Both were successfully treated with simultaneous endoscopic injection therapy with dextranomer/hyaluronic acid. PIC cystography is useful for detecting occult VUR in children with negative VUR findings on standard VCUG or who are unable to tolerate standard VCUG.

Late Occurrence of the Tubo-Ovarian Abscess after Appendectomy for Perforated Appendicitis in a Virginal Adolescent Girl.

BACKGROUND: Tubo-ovarian abscess (TOA) is generally seen in sexually active women. It is rarely reported in virginal adolescent girls. CASE: A 12-year-old virginal girl was referred to us for repeated fever and right lower abdominal pain. She had undergone an appendectomy for a perforated appendix with abscess 5 years previously. Laparoscopic surgery revealed pelvic adhesions associated with TOA in the right pelvis. At 2 months after laparoscopic drainage, she underwent resection of the affected tube with wedge resection of the ipsilateral ovary due to the recurrence of TOA. SUMMARY AND CONCLUSION: Late occurrence of TOA should be considered in the differential diagnosis of repeated abdominal pain and fever in virginal adolescent girls with a history of appendectomy for complicated appendicitis, even if the history is remote.

Laparoscopic Abdominoscrortal Hydrocele: A Case Series.

OBJECTIVE: To evaluate the effect of laparoscopic percutaneous extraperitoneal closure (LPEC) of the internal inguinal ring for the treatment in pediatric abdominoscrotal hydrocele (ASH) and to assess the feasibility and safety of the procedures. PATIENTS AND METHODS: Data were collected from the charts of patients with ASH who underwent surgery in Kokura Medical Center from April 2014 to December 2019. The patients' characteristics, preoperative diagnosis, forms of abdominal components, presence of patent processus vaginalis (PPV), associated pathologies, and postoperative results were evaluated. RESULTS: The study population included 10 patients (4.3% of all 230 hydroceles). The mean age of 10 patients was 3.5 years (range, 7 months to 7 years). A preoperative diagnosis of ASH was made in 3 patients. In the other 7 patients, ASH was detected during laparoscopic repair of the scrotal hydrocele. The abdominal forms of hydrocele were monolocular cysts (n = 6) and multilocular cysts (n = 4). PPV was detected by laparoscopy in all cases. Six patients had contralateral pathologies, including PPV (n = 4), inguinal hernia (n = 1), and scrotal hydrocele (n = 1). One patient had ipsilateral undescended testis. Preoperative ultrasonography showed some degree of testicular dysmorphism on the affected side in 4 cases. In all cases, treatment was accomplished by closing the PPV at the internal inguinal ring by LPEC procedures. No patients had postoperative complications, including recurrent ASH or hydrocele after ASH repair (mean follow-up, 2.6 years). CONCLUSION: LPEC may be an adequate and minimally invasive method for the treatment of the pediatric ASH.

Congenital hyperinsulinism associated with Hirschsprung's disease-a report of an extremely rare case.

BACKGROUND: Congenital hyperinsulinism (CH) is a rare disease, characterized by severe hypoglycemia induced by inappropriate insulin secretion from pancreatic beta-cells in neonate and infant. Hirschsprung's disease (HD) is also a rare disease in which infants show severe bowel movement disorder. We herein report an extremely rare case of combined CH and HD. CASE PRESENTATION: The patient was a full-term male infant who showed poor feeding, vomiting, and hypotonia with lethargy on the day of birth. He was transferred to tertiary hospital after a laboratory analysis revealed hyperinsulinemic hypoglycemia. The patient showed remarkable abdominal distension without meconium defecation. An abdominal X-ray showed marked dilatation of the large bowel. He was diagnosed with CH (nesidioblastosis) associated with suspected HD. He was initially treated with an intravenous infusion of high-dose glucose with the intermittent injection of glucagon. This was successfully followed by treatment with diazoxide and octreotide (a somatostatin analog). At 8 months of age, HD was confirmed by the acetylcholinesterase staining of a rectal mucosal biopsy specimen, and a transanal pull-through operation was performed to treat HD. At 14 months of age, subtotal pancreatectomy was performed for the treatment of focal CH located in the pancreatic body. His postoperative course over the past 12 years has been uneventful without any neurologic or bowel movement disorders. CONCLUSIONS: Although it is extremely rare for CH to be associated with HD, associated HD should be considered when a patient with CH presents severe constipation.

Emergent laparoscopic dome resection and omental suturing to the splenic parenchymal edge for a spontaneously ruptured non-parasitic large splenic cyst in a pediatric patient: a case report.

BACKGROUND: Spontaneously ruptured large splenic cyst is a rare in children, and traditionally total or partial splenectomy has been performed for treating an emergent case. We herein present a first case with spontaneously ruptured pediatric splenic cyst treated with emergent laparoscopic dome resection with omental suturing to the parenchymal edge of the spleen. CASE PRESENTATION: A 12-year-old girl with a spontaneously ruptured large non-parasitic splenic cyst (SC) was successfully treated by emergent laparoscopic dome resection with omental suturing to the edge of the splenic parenchyma. The patient presented with acute abdominal pain and was diagnosed with a ruptured non-parasitic SC and peritonitis by contrast-enhanced computed tomography (CT). Emergent laparoscopic dome resection of the SC and omental suturing to the splenic parenchymal edge were then performed. The protruding part of the cyst wall was completely resected using an ultrasonically activated device (USAD), and the greater omentum was then sutured to the anterior edge of the splenic parenchyma under a laparoscopic view. No complications were observed during the operation. A histological examination revealed a congenital splenic cyst lined by epithelial cells. The postoperative course was uneventful, and an ultrasound scan showed no evidence of cyst recurrence at 3 years after the operation. CONCLUSIONS: This minimally invasive laparoscopic procedure was feasible and effective for treating a ruptured large splenic cyst in an emergent pediatric patient.

Clinical significance of a highly sensitive analysis for gene dosage and the expression level of MYCN in neuroblastoma.

BACKGROUND: The amplification of the MYCN gene is one of the most powerful adverse prognosis factors in neuroblastoma, but the clinical significance of an enhanced expression of MYCN remains controversial. To reassess the clinical implications of MYCN amplification and expression in neuroblastoma, the status of amplification and the expression level of the MYCN gene of primary neuroblastoma samples were analyzed using highly sensitive analyses. METHODS: Using a quantitative polymerase chain reaction (PCR) method (TaqMan), the gene dosages (MYCN/p53) of 66 primary neuroblastoma samples were determined. In all 66 samples, the status of MYCN amplification has been determined previously by the Southern blotting method. Of the 54 samples with a single copy of MYCN based on the Southern blotting method, 23 samples were analyzed for MYCN amplification using the fluorescence in situ hybridization (FISH) method. The expression levels (MYCN/GAPDH) of 56 samples were determined by a quantitative reverse transcriptase (RT)-PCR method. RESULTS: Of the 54 samples with a single copy of MYCN based on the Southern blotting method, 46 samples showed MYCN gene dosages of less than 2.0, whereas the remaining 8 samples with dosages of more than 2.0 were tumors from patients with advanced-stage disease. The results of FISH supported the fact that these 8 samples contained a small number of MYCN-amplified cells. The cases of MYCN gene dosages of more than 2.0 were significantly associated with all other unfavorable prognostic factors (an age of >1 year at diagnosis [P <.0001], nonmass screening [P =.0003], advanced stage [P <.0001], diploid or tetraploid [P <.0001], and a Shimada unfavorable histology [P <.0001]). MYCN gene dosages of more than 2.0 were significantly associated with a high expression of MYCN (P =.0459). However, the expression level of MYCN was not significantly associated with any other prognostic factors. CONCLUSIONS: Quantitative PCR may thus be a useful modality for performing a highly sensitive and accurate assessment of the amplification and expression levels of the MYCN gene. In particular, the combination of the quantitative PCR system and the FISH method is considered to be a highly effective method for evaluating the status of MYCN amplification. In this highly sensitive analysis, MYCN amplification (MYCN/p53 > or = 2.0) was reconfirmed to be a strongly unfavorable factor, whereas the expression level of MYCN does not appear to be an independently significant prognosis factor.

Evaluation of genetic heterogeneity in neuroblastoma.

BACKGROUND AND METHODS: The prognosis in neuroblastoma, which is the most common solid tumor in children, tends to vary greatly, and many studies have demonstrated both clinical and biological factors to be closely correlated with the outcome. In order to select the optimal treatment according to the degree of malignancy of neuroblastoma, it is essential to accurately and rapidly identify any genetic heterogeneity associated with the prognosis. We assessed the status of some genetic abnormalities (MYCN amplification, deletion of the short arm of chromosome 1, DNA ploidy, and a gain of the chromosome 17q region) associated with the prognosis using several molecular biological methods. RESULTS AND CONCLUSIONS: The combination of several molecular biological techniques is thus considered to be useful for elucidating the degree of malignancy of neuroblastoma. In particular, diagnostic analyses based on a combination of the fluorescence in situ hybridization (FISH) method and the quantitative polymerase chain reaction (PCR) method may be considered to be the most effective methods for quickly and accurately evaluating any aberrations in the gene dosages associated with the patients' outcomes.