A case of secretory breast cancer in a 6 year-old girl: is it possible to make a correct preoperative diagnosis?

Secretory breast carcinoma constitutes the majority of breast cancers in children and young people less than 20 years of age. Noninvasive examination is particularly necessary for the diagnosis of breast carcinoma in children. Herein, we report a case of secretory breast carcinoma in a 6-year-old girl with psychomotor retardation. She was referred to our outpatient clinic for evaluation of a palpable mass in her left breast. A hard mass, rather than the increase in size typical of premature thelarche, was palpated. An excision biopsy was performed. Pathological findings revealed an invasive secretory breast carcinoma. We performed a retrospective review of the preoperative findings of this case, and compared it to the pathological diagnosis. Elastography, which can be performed without deep sedation or general anesthesia and without causing pain, resulted in a stiffness score of 4; however, the distinction between benign and malignant tumors on elastography, which is important to decide the intra-operative procedures, was not sufficient according to the Japanese breast cancer society clinical guidelines. This is the first report of secretory breast carcinoma in a child with a stiffness score determined by tissue elasticity imaging. A breast mass in a child with a high stiffness score of more than 4 on elastography should be referred for invasive diagnostic procedures, such as fine needle aspiration or excisional biopsy. According to our experience, an accurate preoperative diagnosis could be possible for malignant breast tumors in children. Such parameters as stiffness score on elastography are practical, noninvasive, and objective diagnostic tools for the accurate preoperative diagnosis of breast tumors in children.

Non-occlusive intestinal ischemia in the ascending colon and rectum: a pediatric case occurring during encephalitis treatment.

BACKGROUND: Non-occlusive mesenteric ischemia (NOMI) is a rare and severe pathological condition that can cause intestinal necrosis without mechanical obstruction of the mesenteric artery. NOMI often develops during the treatment of severe disease in elderly patients and mostly occurs in the intestine supplied by the superior mesenteric artery (SMA). We experienced a 12-year-old patient with NOMI that was segmentally localized in the ascending colon and rectum during encephalitis treatment. CASE PRESENTATION: A 12-year-old boy was hospitalized with limbic encephalitis. On day 41 after admission, he abruptly developed hypotension following diarrhea and fever, and presented abdominal distension. A computed tomography scan revealed pneumatosis intestinalis localized in the ascending colon and rectum coexisting with portal venous gas. The presence of peritoneal signs required an emergency laparotomy. Intraoperatively, skip ischemic lesions were found in the ascending colon and the rectum without bowel perforation. SMA and superior rectal arterial pulsation were present, and the patient was diagnosed with NOMI. The remaining colon, from the transverse to the sigmoid colon, appeared intact. We performed a distal ileostomy without bowel resection. Postoperative colonoscopies were carried out and revealed rectal and ascending colon stenosis with ulceration but demonstrated the patency of the two lesions. We confirmed the improvement of the transient bowel strictures; therefore, the ileal stoma was closed 14 months after the previous laparotomy. CONCLUSION: NOMI can be present in childhood during encephalitis treatment and can be segmentally localized in the ascending colon and the rectum. Although NOMI is most often seen in elderly patients, we should also consider the possibility of NOMI when pediatric patients with severe illness manifest abdominal symptoms.

Dieulafoy lesion in a two-year-old boy: a case report.

BACKGROUND: Massive gastrointestinal bleeding in children, mostly caused by esophageal varices secondary to chronic liver disease, is uncommon. Dieulafoy lesion in the gastrointestinal tract is a rare but important cause of gastrointestinal bleeding; massive bleeding from this lesion can be fatal unless adequate treatment is promptly initiated. We report a case of gastric Dieulafoy lesion in a 2-year old successfully treated with endoscopic hemoclipping. CASE PRESENTATION: A 2-year-old Japanese boy was admitted to our department with sudden massive hematemesis. He had no significant past medical illness, and he was well just before the episode of hematemesis. A clinical examination revealed anemia (hemoglobin, 8.0 g/dl). The rapidly progressive anemia associated with massive hematemesis indicated the presence of an active bleeding in his upper gastrointestinal tract. We performed emergency gastroscopy under general anesthesia. The gastroscopy revealed the presence of an abnormal visible vessel with an adherent clot on the lower body of his stomach. No mucosal abnormality surrounding the lesion was noted; the lesion was thus diagnosed as Dieulafoy lesion. One hemostatic clip was placed on the Dieulafoy lesion and excellent hemostasis was obtained. He recovered without blood transfusion and was discharged 4 days post-endoscopy. He has recovered well with no recurrence of hematemesis. CONCLUSIONS: Dieulafoy lesion is rare cause of sudden massive gastrointestinal bleeding in children. Nevertheless, it should be considered a differential diagnosis, even in babies. With advances in gastrointestinal endoscopy, as both a diagnostic and therapeutic modality, laparotomy secondary to gastrointestinal bleeding from Dieulafoy lesion has decreased in pediatric cases. Our case report demonstrates the feasibility of endoscopic hemoclipping for gastric Dieulafoy lesion in a child.

A Modified Technique with a New Device of Laparoscopic Percutaneous Extraperitoneal Closure for Pediatric Inguinal Hernia.

INTRODUCTION: Laparoscopic percutaneous extraperitoneal closure (LPEC) in boys is more complex than in girls, because the vas deferens and testicular vessels must be separated from the peritoneum. We therefore developed a needle-shaped surgical instrument that enables blunt separation. Here, we report the effectiveness of this new device. SURGICAL TECHNIQUE: The new device is a ligature carrier consisting of (1) an inner tube (19-G blunt needle) through which slides a rod with a loop wire at its tip that can catch and release suture materials and (2) an outer tube (17-G needle) with a cutting edge. The blunt-structured inner tube enables blunt separation. All actions (stabbing, separation, and catching) in the LPEC procedure that are required to close the hernia orifice using a thread are facilitated through a simple small incision by switching between the inner and outer tubes. SUBJECTS AND METHODS: From January 2013 to September 2015, 73 boys with inguinal hernia or hydrocele underwent LPEC, and the new device was used in 45 of these cases. We compared surgical results between cases wherein the new (group A) and conventional devices (LPEC needle; group B) were used. RESULTS: The mean surgery duration was 33.4 and 34.8 min for groups A and B, respectively. Neither group experienced complications during or after surgery. CONCLUSION: Our findings suggest that the newly developed needle device may improve the safety of the LPEC procedure for boys, although further investigation involving more cases and long-term follow-up is needed in the future.

Identification of novel ALK rearrangement A2M-ALK in a neonate with fetal lung interstitial tumor.

Fetal lung interstitial tumor (FLIT) is a recently reported type of congenital lung lesion comprising solid and cystic components. The pathological features include unique interstitial mesenchyme-based cell proliferation, and differ from other neoplasms represented by pleuropulmonary blastoma or congenital peribronchial myofibroblastic tumor. FLIT is extremely rare and its gene expression profile has not yet been reported. We provide the first report of a novel chromosomal rearrangement resulting in α-2-macroglobulin (A2M) and anaplastic lymphoma kinase (ALK) gene fusion in a patient with FLIT. The tumor cells contained a t(2;12)(p23;p13) and were mesenchymal in origin (e.g., inflammatory myofibroblastic tumors), suggesting the involvement of ALK in this case of FLIT. Break apart fluorescence in situ hybridization demonstrated chromosomal rearrangement at ALK 2p23. Using 5'-rapid amplification of cDNA ends, we further identified a novel transcript fusing exon 22 of A2M to exon 19 of ALK, which was confirmed by reverse-transcription polymerase chain reaction. The corresponding chimeric gene was subsequently confirmed by sequencing, including the genomic break point between intron 22 and 18 of A2M and ALK, respectively. Discovery of A2M as a novel ALK fusion partner, together with the involvement of ALK, provides new insights into the pathogenesis of FLIT, and suggests the potential for new therapeutic strategies based on ALK inhibitors.

Tracheal stenosis treated by division of the brachiocephalic artery: Report of a case.

Tracheal stenosis of the brachiocephalic artery (BCA) is rare, and no definitive treatment protocol has yet been established. Brachiocephalic artery compression of the trachea is also relatively rare. This report presents a case of tracheal stenosis treated by division of the BCA. A 29-year-old woman was admitted because of stridor. Computed tomography (CT) revealed tracheal stenosis caused by compression of the BCA. Brachiocephalic artery suspension or aortopexy was not indicated because she had a thoracic deformity. Therefore, the BCA was divided. The operation was achieved without complications such as ischemia of the right arm or stroke. The stenosis of the trachea was improved. Division of the BCA can be an effective alternative procedure when the tracheal stenosis is caused by the BCA.

Ganglion of the groin in a child: an unusual cause of soft-tissue swelling of the groin.

A case of groin ganglion with asymptomatic compression of the femoral vein is described. A 2-year-old girl was referred because of a symptomless groin mass. A mass was palpable in the right femoral triangle. Computed tomography and ultrasonography revealed a cystic lesion compressing the femoral vein ventrally. Prompt surgical removal of the cystic lesion was done without complications. Histopathological examination showed a benign structure similar to that of a ganglion.

Omphalocele associated with a large multilobular umbilical cord pseudocyst.

The prevalence of umbilical cord cysts at 7-13 weeks' gestation is approximately 3%. More than 20% of such cases are complicated by structural defects and/or chromosomal abnormalities such as trisomy 18. These cysts usually have a single cavity and are <5 cm in size. Therefore, when an umbilical cord cyst is detected in the 2nd trimester, the examination of fetal karyotype is recommended. Omphaloceles are also well known to be complicated by many anomalies, especially trisomy 18. We report a case of an omphalocele associated with a large multilobular umbilical pseudocyst (diameter >5 cm) in a patient with a normal karyotype, 46XY. These anomalies were diagnosed by fetal ultrasonography. However, the cyst was difficult to diagnose as an umbilical cord pseudocyst because it was very large and multilobulated. At 38.5 weeks of gestation, the patient was delivered by Cesarean section. The cyst was resected, and the omphalocele was closed by staged surgeries. Pathologic diagnosis of the cyst was the degeneration of Wharton's jelly. This diagnosis was made by the absence of epithelial lining inside the cyst wall, since the existence of epithelial cells correlates with true cysts.

Experimental study of the embryogenesis of gastrointestinal duplication and enteric cyst.

The theory of gastrointestinal duplication and enteric cyst embryogenesis was verified by examining the developmental process of this experimentally induced anomaly. In Cynopus pyrrhogaster (amphibian) embryos (stage 18), the dorsal midline structures (including the neural plate and notochord) were split regionally to induce partial separation of the notochord and gut anlage endoderm herniation between the split elements of the notochord. Following this procedure, the embryonic development was traced morphologically and histologically. Control embryos were cultured without the procedure. Following the incubation and breeding period, gastrointestinal duplication and enteric cysts were observed with vertebral anomaly, spina bifida, split cord malformation and subcutaneous manifestations in the mature animals. The combination of anomalies that was observed in these experimental animals is consistent with that found in "split notochord syndrome." No abnormal morphology or histology was observed in the control group. The embryogenetic theory of gastrointestinal duplication and enteric cysts was thus verified by simulating the partial separation of the notochord, which induced split notochord syndrome in laboratory animals. The results indicate that gastrointestinal duplication and enteric cysts may arise through a process of herniation of the gut anlage endoderm between split elements of the notochord.

Experimental split cord malformations.

OBJECTIVE: To induce experimental split cord malformations (SCMs) produced through the surgical induction of a dorsal midline fistula. METHODS: In addition, the theory of embryogenesis of SCMs was verified by examining the developmental process of this experimentally induced anomaly. In Cynopus pyrrhogaster (amphibian) embryos (stage 18), the neural plate and notochord were split regionally to construct a fistula that appeared to be the ectopic neurenteric canal. Following this procedure, the embryonic development was traced morphologically and histologically. RESULTS: Following the incubation and breeding period, split cord malformation was observed in some animals. Scoliosis, spina bifida, vertebral anomaly and subcutaneous manifestations were also observed with SCMs. CONCLUSIONS: The observations made in these experimentally induced SCMs are consistent with the findings in human SCMs. We report an experimental animal model of split cord malformation, in which double spinal cords were developed in the spinal canal. In addition, we examined the embryogenesis of SCMs. This study indicates that SCMs may arise through a process of dorsal midline fistula of the neural plate.