后尿道瓣膜症

目的探讨后尿道瓣膜对上、下尿路的损害及治疗。方法回顾分析158例后尿道瓣膜病例。年龄14d～15岁，〈1岁59例（37．3％），平均3岁3个月。手术除经尿道内切开瓣膜外，曾做膀胱造口20例，输尿管皮肤造口5例以及睾丸固定3例。结果108例（68．4％）随访3个月～17年，平均2．5g。正常排尿54例，经常滴尿16例。因VUR或输尿管膀胱交界部梗阻需输尿管再植16例，肾切除5侧，肾造瘘4例，膀胱造瘘1例。死亡6例，生长发育落后2例。1例因并发前尿道瓣膜，2例尿道狭窄再次经尿道内切开，1例尿道闭锁做尿道吻合。结论后尿道瓣膜是男儿最常见的先天性下尿路梗阻性疾病，可致严重的上、下尿路损害，需尽早引流尿路，控制感染。减少肾功能损害。1岁以下婴儿如无合适切除镜时应先做膀胱造口。对排尿功能不良患儿应做尿动力学检查，以确定治疗方案。     

Right Ventricular Dysplasia with Massive Thromboemboli in Tuberous Sclerosis Complex

A 12-year-old boy visited the emergency room for severe dyspnea. He was diagnosed with tuberous sclerosis at 5 years of age, and right ventricular dysplasia was detected at 11 years of age. Thromboemboli in right ventricle and bilateral pulmonary arteries were confirmed with two-dimensional echocardiography and computed tomography. We report the case of a patient with tuberous sclerosis who presented with huge thrombi in a dysplastic right ventricle and massive bilateral pulmonary thromboemboli without evidence of a cardiac tumor.     

Retropharyngeal Synovial Sarcoma in an Infant: Report of a Case and of Its Response to Chemotherapy; Review of the Literature

Synovial sarcoma of the retropharynx is an extremely rare neoplasm. To date, only 10 cases have been reported in patients less than 15 years old. Our 15-month-old patient is, to our knowledge, the youngest ever reported with a retropharyngeal synovial sarcoma in the world literature. In the past, treatment usually consisted of surgery followed by radiotherapy or adjuvant chemotherapy, or both. In the case reported here, combination chemotherapy (ifosfamide, vincristine, and actinomycin D), used as the initial treatment modality, induced a dramatic decrease of the synovial sarcoma.     

Synovial sarcoma in young people: background, prognostic factors, and therapeutic questions

Synovial sarcoma represents 5% to 10% of all soft tissue sarcomas, with an estimated total of 800 new cases annually in the United States. The median age is 30 years; males and females are almost equally affected. About 70% of cases occur in patients more than 20 years old. Young people less than 20 years of age are mainly affected in the second decade of life. The majority of the tumors occur in para-articular structures in the extremities, and most of them are localized at diagnosis. A recent meta-analysis of 219 patients younger than 21 years old treated by the University of Texas M. D. Anderson Cancer Center's Division of Pediatrics, St. Jude Children's Research Hospital, the German Cooperative Group, and Istituto Nazionale dei Tumori, Milan, found that, as in older people, tumor size larger than 5 cm, residual local tumor or metastases at diagnosis, and progressive or recurrent disease all portended a poor outcome. There are currently no randomized studies of therapy for patients with synovial sarcoma, but such are needed to provide answers to the following questions: Is adjuvant chemotherapy useful in preventing recurrence in patients without visible residual disease after apparently complete surgical removal of localized tumor? Should local radiation therapy be given to all patients who have had complete removal of the primary tumor with clear margins at the time of diagnosis?     

Epilepsy surgery in Sturge-Weber syndrome

Abstract A patient with Sturge-Weber syndrome developed seizures at the age of 4 years. At 13 years of age, she had intractable complex partial seizures with marked visual symptomatology. Interictal encephalograms showed bilateral slow activity, more marked over the right hemisphere with epileptogenic activity maximal in the right temporal region. Serial computerized axial tomography scans demonstrated evoluton of bilateral occipital lesions with calcification and adjacent low density areas that were more marked on the right. Magnetic resonance imaging, angiography and neuropsychological evaluations were performed. An extensive resection of the right occipital lobe was achieved. One year after surgery, the patient has had seven brief seizures. Delineation of an epileptogenic focus and surgical removal of the lesion in patients with intractable seizures can now be considered in selected patients with bilateral central nervous system pathology.     

Epilepsy surgery in Sturge-Weber syndrome

A patient with Sturge-Weber syndrome developed seizures at the age of 4 years. At 13 years of age, she had intractable complex partial seizures with marked visual symptomatology. Interictal encephalograms showed bilateral slow activity, more marked over the right hemisphere with epileptogenic activity maximal in the right temporal region. Serial computerized axial tomography scans demonstrated evolution of bilateral occipital lesions with calcification and adjacent low density areas that were more marked on the right. Magnetic resonance imaging, angiography and neuropsychological evaluations were performed. An extensive resection of the right occipital lobe was achieved. One year after surgery, the patient has had seven brief seizures. Delineation of an epileptogenic focus and surgical removal of the lesion in patients with intractable seizures can now be considered in selected patients with bilateral central nervous system pathology.     

Orbital sarcoma with metastases at diagnosis: A report from the soft tissue sarcoma committee of the Children's Oncology Group

We reviewed clinicopathologic features and treatment outcomes in seven patients diagnosed with Stage 4/Group IV orbital sarcoma and treated on IRSG protocols I–III. Three patients had embryonal rhabdomyosarcoma (RMS), and two patients each had alveolar RMS or unclassified sarcoma. Median age at diagnosis was 1.8 years (range 0.2–6.9 years). All patients had bone marrow involvement, including six with normal complete blood count at diagnosis. Cerebrospinal fluid was normal in six patients. Three patients survived >5 years, including one with local recurrence. In conclusion, further study is needed to determine necessity of bone marrow and CSF examination in orbital sarcoma patients. Pediatr Blood Cancer 2010;54:1045–1047 © 2010 Wiley‐Liss, Inc.     

Undifferentiated embryonal sarcoma of the liver in a child complicated by haemorrhage

Undifferentiated embryonal sarcoma (UES) of the liver is a rare malignant neoplasm that mostly affects children younger than 15 years of age. We report a patient with UES in the right lobe that was complicated by haemorrhage after needle biopsy. The tumour was managed by embolization of the right hepatic artery and treated successfully with chemotherapy and surgical resection. Prophylactic embolization of the feeding artery should be undertaken before a biopsy procedure if there is the possibility of tumour rupture, in the presence of signs of intratumoral or peritumoral bleeding, or in the presence of a vascular liver mass.     

Synovial sarcoma in the neck of an eleven month old girl

Synovial sarcomas are rare primary tumors of the head and neckin any age group. We present a case of primary synovial sarcoma arising in the neck of an 11-month-old girl.     

A CHILD WITH UNDIFFERENTIATED SARCOMA OF THE LIVER COMPLICATED WITH BRONCHOBILIARY FISTULA AND DETECTED BY HEPATOBILIARY SCINTIGRAPHY

Undifferentiated (embryonal) sarcoma of the liver (USL) is a rare malignant mesenchymal tumor principally affecting patients of pediatric age. Bronchobiliary fistula is a very rare complication in patients with liver tumor. To the authors' knowledge, this is the first report of a bronchobiliary fistula resulting from tumor invasion in a child with liver sarcoma. A 12-year-old boy was diagnosed to have USL of the right liver lobe, invading the diaphragm. An extended right hepatectomy and total resection of the mass was performed, leaving patchy tumoral invasion of the anterior diaphragmatic surface followed by combined chemotherapy regimen. Six months after the operation, the presence of bilious sputum suggested a bronchobiliary fistula, which was confirmed by hepatobiliary scintigraphy. The patient underwent a right thoracotomy and fistula division. Although bronchobiliary fistula is a very rare complication in patients with hepatic tumors, suspicion in the appropriate clinical setting is necessary to recognize this problem. Hepatobiliary scintigraphy is the useful diagnostic procedure to define bronchobiliary fistula in children with liver tumor and clinical suspicion of bronchobiliary fistula.     

A child with undifferentiated sarcoma of the liver complicated with bronchobiliary fistula and detected by hepatobiliary scintigraphy

Undifferentiated (embryonal) sarcoma of the liver (USL) is a rare malignant mesenchymal tumor principally affecting patients of pediatric age. Bronchobiliary fistula is a very rare complication in patients with liver tumor. To the authors' knowledge, this is the first report of a bronchobiliary fistula resulting from tumor invasion in a child with liver sarcoma. A 12-year-old boy was diagnosed to have USL of the right liver lobe, invading the diaphragm. An extended right hepatectomy and total resection of the mass was performed, leaving patchy tumoral invasion of the anterior diaphragmatic surface followed by combined chemotherapy regimen. Six months after the operation, the presence of bilious sputum suggested a bronchobiliary fistula, which was confirmed by hepatobiliary scintigraphy. The patient underwent a right thoracotomy and fistula division. Although bronchobiliary fistula is a very rare complication in patients with hepatic tumors, suspicion in the appropriate clinical setting is necessary to recognize this problem. Hepatobiliary scintigraphy is the useful diagnostic procedure to define bronchobiliary fistula in children with liver tumor and clinical suspicion of bronchobiliary fistula.     

BCOR‐CCNB3 fusion‐positive clear cell sarcoma of the kidney

Clear cell sarcoma of the kidney (CCSK) is the second most common malignant pediatric renal tumor. Two of the recurrent somatic alterations reported in CCSK are BCL‐6 corepressor (BCOR) internal tandem duplication (ITD) and YWHAE‐NUTM2B/E gene fusion. A minority of patients with CCSKs have other rare somatic alterations. We report two patients with CCSK showing BCOR‐CCNB3 (where CCNB3 is cyclin B3) fusion, who had similar clinical presentation of a large renal mass with tumor thrombus extending through the inferior vena cava into the right atrium and a favorable response to chemotherapy. We recommend BCOR‐CCNB3 fusion testing for all patients with CCSK who lack BCOR‐ITD or YWHAE‐NUTM2B/E gene fusions.     

Wilms’ Tumor: A 24-year Retrospective Study from a Single Center

Medical records of 71 children with Wilms’ tumor at Sisli Etfal Education and Research Hospital between 1990 and 2014 were reviewed. Mean age at diagnosis was 3.11 years (2 days–7 years). Male to female ratio was M/F = 6/10. The incidence of associated anomaly was 16.9%. Clinical manifestations included abdominal mass (89%), hematuria (30%), hypertansion (25%), abdominal pain (15%), fever (5%), restlessness (2%), weight loss (2%), varicocele (1%). Ultrasound (USG) was the most often initial study in a child presenting with abdominal mass. Doppler USG was also made to evaluate the inferior vena cava (IVC) for the presence of tumor extension in children with renal mass. The left kidney was affected in 33 patients (46.5%), the right was affected in 31 patients (43.7%). Two patients was extrarenal (2.8%). And 5 patients (7.04%) were bilateral on the presentation. Preoperative chemotheraphy was done in 14 cases. In 63 patients with unilateral Wilm tm, unilateral radical nefrectomy is performed. In one patient with solitary kidney, nephron sparing surgery (NSS) is performed. In 3 patients with bilateral tm NSS is performed and in 2 patients with bilateral Wilms’ tm NSS is performed in one side and nefrectomy on the other side. Out of 71 Wilms tumor (WT) patients, 17 of them has been out of our follow. And 4 of them are died. Ten of them has metastases. Forty children are under follow with no metastases. Patients with WT needs a multimodal, multidisiplinary treatment with the cooperation of pediatric oncologist and pediatric surgeon and needs close follow-up.     

Fibromyxoid sarcoma in a four-year-old child: Case report and review of the literature

We present a child with a rare and chemotherapy-resistant form of soft-tissue cancer, low-grade fibromyxoid sarcoma, first noted when he was 4 years old. He is the youngest patient reported to date. An 11-year-old white male presented to The University of Texas M. D. Anderson Cancer Center's Department of Pediatrics with a 7-year history of right thigh mass and pulmonary nodules, confirmed on examination. He had undergone extensive prior chemotherapy and surgery. He received chemotherapy with high-dose cyclophosphamide (7 g/m²) and later etoposide (150 mg/m²/day × 5), with only slight shrinkage of the thigh mass and none in the lungs. Subsequently the tumor in his proximal thigh and his lung metastases were resected, and radiation therapy was administered to the thigh. His disease remained stable for 12 months, but he then developed a pleural-based metastasis on the left side and new, bilateral lung metastases also. The tumors on the left side were removed; residual disease is stable after treatment for 6 months with subcutaneous alpha-interferon-2b. Low-grade fibromyxoid sarcoma is very uncommon in children. It grows slowly and metastasizes to distant organs, chiefly to the lungs. It is resistant to conventional chemotherapy, and thus far only surgery seems to have a life-prolonging effect. Newer chemotherapeutic and possibly biologic agents should be tried in future patients, in order to find an effective way to control the disease. © 1996 Wiley-Liss, Inc.     

Successful complete resection of Ewing sarcoma arising from the bladder in a 10-year-old boy after chemotherapy

Ewing sarcoma (ES) of the bladder is extremely rare. Here we report the successful treatment of the youngest case of ES arising from bladder encountered to date and a literature review. A 10-year-old boy who presented with polyuria and lower abdominal swelling was found to have a 13 cm mass arising from the bladder localized to the center of the lower abdomen. Biopsy confirmed ES. Following chemotherapy, the mass shrank to 5 cm and was found to be localized to the right side of the bladder with invasion of the right vas deferens. One-third of the right side of the bladder and part of the right vas deferens were resected. No viable cancer cells were detected in the resected specimen, and the surgical margins were reported to be negative. The patient is currently well with no recurrence or metastases after 11 months. There are 12 cases of Ewings sarcoma arising from the bladder reported in the English literature; two cases in children. Our case will be the third pediatric case and the youngest.     

Sirolimus therapy for fibromatosis and multifocal renal cell carcinoma in a child with tuberous sclerosis complex

A male with tuberous sclerosis complex (TSC) developed a chest wall fibromatosis and bilateral multifocal renal cell carcinoma (RCC). The fibromatosis tumor was initially resected during infancy but recurred 5 years later. At that time, bilateral RCC was also detected, leading to the resection of the more extensively affected right kidney. In an attempt to avoid bilateral nephrectomies, the patient was treated with the mTOR inhibitor sirolimus. Within 6 months of therapy, the fibromatosis and remaining RCC tumors responded substantially with minimal adverse effects. Pediatr Blood Cancer 2010;54:1035–1037 © 2010 Wiley‐Liss, Inc.     

Renal cell carcinoma in a child presented as bilateral femur neck fractures caused by severe vitamin D deficiency

An Ethiopian girl 14 years and 11 months of age presented with bilateral transcervical hip fractures. Workup revealed severe vitamins D and C deficiencies with secondary hyperparathyroidism. Imaging studies showed bilateral radiolucent metaphyseal bands with multiple lytic lesions in long bones. A mass in the right flank was found to be renal cell carcinoma (RCC). Currently, 9 months postsurgery and supplemental therapy, the patient is fully ambulatory and free of pain. This first report of asymptomatic RCC in severely vitamin D deficient child highlights the relation of RCC to vitamin D deficiency and emphasizes the importance of careful evaluation of these children.     

Spontaneous closure of perimembranous ventricular septal defect after school age

Background: The number of studies of long‐term follow up to adolescence is very low on spontaneous closure (SC) of perimembranous ventricular septal defects (P‐VSD) in children not undergoing surgical closure because of small left‐to‐right shunting. Methods: Seventy patients with a P‐VSD with pulmonary‐to‐systemic flow ratio (Qp/Qs) < 1.7 underwent cardiac catheterization at the age of 2–10 years (mean, 5.1 years). Excluding 22 patients who dropped out by 15 years, 48 were selected. Qp/Qs ranged from 1.00 to 1.68 (mean, 1.17). The average follow‐up period of 37 patients excluding the SC patients was 17.8 years. They were classified according to Qp/Qs into three groups: group I, 1.4 ≤ Qp/Qs < 1.7; group II, 1.2 ≤ Qp/Qs < 1.4; and group III, 1.0 ≤ Qp/Qs < 1.2. Results: SC occurred in 11 patients (23%). SC rates in group I and II were lower than those in group III (I, 0/8 0%; II, 1/10 10%; III, 10/30 33%). In 23 patients (48%), an aneurysm of the ventricular membranous septum (AVMS) was detected, but no significant relationship was found between the presence of AVMS and SC rate. Conclusions: SC occurred in 23% of patients with a P‐VSD of Qp/Qs < 1.7 up to adolescence. But a P‐VSD of Qp/Qs ≥ 1.2 showed no tendency to close spontaneously. The factor most influencing SC of P‐VSD after school age seemed to be the shunt ratio.     

Hemihypertrophy in a boy with polycystic kidney

Ultrasonographic and radiological examination of a male newborn with a mass in the left lumbar region revealed bilateral polycystic kidneys. At the age of 6 months, a moderate hemihypertrophy of the left side was detected and confirmed with 2 1/2 years. Growth, development and renal functions are normal. The association of hemihypertrophy with nephroblastoma is well known, with polycystic kidneys, however, very rare.