Glanular Venous Malformation in Pediatric Age: An Uncommon Vascular Disorder.

Glanular venous malformations are uncommon in pediatric patients. The diagnosis can be easily achieved by observation, even if color Doppler ultrasound is useful for a better characterization. Abdomino-pelvic MRI is necessary to assess the extension of complex lesions and check for associated anomalies. Several therapeutic options are reported in literature. We report 3 paediatric cases successfully treated by surgery with no complications and functional sequelae. Cosmetic results were satisfactory, with minimal surgical scarring. In our opinion, surgery for small glanular venous malformations is indicated within puberty to prevent traumatic bleeding and psychological impact.

Combined kidney and vascularized total bladder transplantation: experience in an animal model.

BACKGROUND: Few reports have described a partial bladder graft with an en bloc kidney transplantation, mainly to facilitate reconstruction of the urinary tract, but also to augment the native bladder. The present study assessed the feasibility to graft vascularized total bladder in association with a renal transplantation. METHODS: The right kidney, in continuity with the ureter and the entire bladder, was retrieved from three female pigs weighing 20 g. The visceral bloc was transplanted to three recipient pigs of the same weight. The entire bladder was transplanted with its vascular connection to ensure a better blood supply. After 3 days of observation, one recipient was humanely killed to examine the bladder graft. Oxygen saturation in the bladder graft monitored for 8 hours was compared with the native bladder in the other two recipients. All three bladder grafts were examined by a pathologist. RESULTS: All bladder grafts seemed to be macroscopically well-perfused upon removal of the vascular clamps. In case 1, the recipient was clinically well with good urinary output over the first 2 days of observation; is contrast, on day 3 the animal displayed an acute reduced urinary output. Laparotomy on day 3 of observation showed recent thrombosis of the bladder and renal graft vessels. In cases 2 and 3, oxygen saturations of the bladder graft were normal during the 8-hour observation period, without any difference between the graft and the native bladder. CONCLUSIONS: According to our results, vascularized total bladder transplantation is feasible. In combination with renal transplantation, it could be applied as an alternative to bladder augmentation or total bladder replacement.

Association between gastroesophageal reflux and endobronchial carcinoid: a case report.

Children with neurological disorders may suffer from gastroesophageal reflux disease (GERD). Typical symptoms are vomiting, regurgitation and hematemesis. Patients present with respiratory symptoms only in cases with swallowing disorders causing chronic airway aspiration. We report the case of a patient affected by chromosome 8 p deletion syndrome with mental retardation, referred to our unit for suspected GERD. Chest X-ray, performed at admission for coexisting respiratory complaints, showed left lower lobe pneumonia; esophageal pH monitoring and upper endoscopy were normal for GERD. To rule out chronic airway aspiration, gastroesophageal 99 mTc scintigraphy with lung scan 18 to 24 h after a test meal and video fluoroscopy swallowing study were performed, both negative. Two months later, a second episode of left lower lobe pneumonia occurred. A chest CT scan was performed and showed an endobronchial mass; the biopsy taken during the broncoscopy was not conclusive. Surgical excision resulted in a diagnosis of pulmonary carcinoid. Bronchial carcinoids, although rare, should be taken into consideration as a potential cause of recurrent pneumonia even in the presence of demonstrated GERD where severe respiratory infections only occur with coexisting chronic pulmonary aspiration, even in neurologically impaired people.

Unusual bladder mass in a 14-year-old boy: bladder paraganglioma.

A 14-year-old boy presenting headache crisis, sweating and palpitation was observed. On ultrasound scan, a 3 × 2.5 cm hypoechoic mass, highly vascularized, was observed arising from the left bladder wall. Magnetic resonance imaging confirmed the mass situated close to the ureteral orifice, with intense peripheral enhancement and a central non-enhanced portion. Left partial cystectomy was performed. Large clear cells, presenting cytoplasmatic granules positive for S100 and chromogranin, were observed at histology. Bladder paraganglioma derives from chromaffin tissue of the sympathic system and it is uncommon in children. The estimated prevalence is very low (0.06% of bladder tumors). Symptomatology is related to the catecholamine production. In pediatrics, prognosis is usually good but long-term follow-up is required.

Parapharyngeal neuroglial heterotopia in Pierre Robin sequence: MR imaging findings.

Heterotopic neuroglial tissue is a rare lesion, occurring more frequently in the nasal cavities. Other rare locations are the orbit, the scalp, the palate, the pharynx, the parapharyngeal space and the lungs. They are usually detected occasionally because they are often asymptomatic, but sometimes they might present with dyspnoea, feeding difficulty, snorting and nasal flaring. Respiratory symptoms occur when heterotopic neuroglial tissue is located in the parapharyngeal space. We report a case of an infant affected by Pierre Robin sequence (PRS) who was admitted to our Institution for a worsening respiratory distress that was not explainable only by PRS.

A single-institution Wilms' tumor and localized neuroblastoma series.

Since January 1980, 120 children affected by Wilms' tumor have been treated at Bambino Gesù, mostly with multimodality treatment according to Société Internationale d'Oncologie Pediatrique (SIOP) protocols, including chemotherapy, surgery and radiotherapy in selected cases. This treatment approach emphasizes the role of preoperative (neoadjuvant) chemotherapy as opposed to the approach favored by the National Wilms' Tumor Study, which is focused on optimizing postoperative chemotherapy after primary surgery. Thus, using SIOP guidelines, staging occurs at the time of surgery, after chemotherapy administration. These differences will constitute the baseline for a comparison between the two experiences. Bilaterality, nephroblastomatosis, partial nephrectomy in unilateral Wilms' tumor and thrombosis of the vena cava are the main topics discussed. For the present study, the analysis was restricted to 98 consecutive cases diagnosed until December 1999, for whom at least 24 mo of follow-up is available. The more recent experience of treating resectable neuroblastoma in cooperative studies dates back to 1979, when the first Italian Cooperative Group Neuroblastoma protocol was introduced. This experience was continued within the frame of the first Localized Neuroblastoma European Study Group protocol (LNESG 94), and will be compared to North American Cooperative Group approaches and outcomes. Preoperative evaluation of surgical risk factors, intraoperative complications and their management, and long-term outcome will be discussed.

Acquired cystic kidney disease following long-term peritoneal dialysis for congenital nephrotic syndrome.

We describe here the clinicopathological findings in a child with congenital nephrotic syndrome (CNS) non-responsive to medical therapy who developed acquired cystic kidney disease (ACKD) in both native kidneys after long-term peritoneal dialysis. This case indicates that CNS is a further pathologic condition related to the development of ACKD.

Paratesticular pilomatricoma: a new location.

The first case of pediatric paratesticular pilomatricoma is reported. Differential diagnosis with other more common lesions in such a site is the main issue. Conservative surgery is the treatment of choice. Follow-up is recommended, since most pilomatricomata are benign, but rarely malignant transformation may occur.

[Mandibular mediastinal cyst. Report of a case with probable odontogenic origin]. / Cisti mediana della mandibola descrizione di un caso di probabile origine odontogena.

The Authors report a case of an incidentally discovered mandibular cyst in a 40-year-old man. X-ray examination revealed an intramandibular symmetric radiolucency extending from the right II molar to the left II one; it was not connected to the root apices of residual teeth, but contained three sopranumerary tooth buds in incisive area. Histology showed a cyst lined-up by stratified squamous epithelium, with focal orthokeratinization. The clinico-radiographic and histologic findings were consistent with a median mandibular cyst, unusually large; the presence of medially located denticles inside the cyst strongly suggested an odontogenic origin.

[Desmoids associated with multiple familial polyposis: description of a clinical case]. / Desmoidi associati alla poliposi familiare multipla: descrizione di un caso clinico.

The Authors report a case of great desmoid tumor of the abdominal wall with intestinal adhesions and enterocutaneous fistula, in a patient with Gardner's syndrome, who underwent total colectomy with ileorectal anastomosis. The patient was treated at first with non steroidal antiinflammatory drugs, then with local chemotherapy. The Authors performed a second surgical procedure resecting the tumor and opening a temporary ileostomy. Despite of these treatment patient showed a local recurrence. Desmoid tumor is a neoplastic benign lesion arising from aponeurotic muscle tissue. Local infiltration and post-operative recurrence are very common. Several surgical and medical treatments are proposed, but they are not totally effective. Surgical treatment might be radical, with wide resection to reduce local recurrences. Radiotherapy and chemotherapy are second choice treatments.

[Aggressive angiomyxoma in men. Clinicopathological presentation of a new case and differential diagnosis considerations]. / Angiomixoma aggressivo nell'uomo. Presentazione clinicopatologica di un nuovo caso e considerazioni sulla diagnosi differenziale.

A further case of aggressive angiomyxoma in men is reported. This is a rare benign locally invasive soft tissue tumor, that should be properly differentiated from other benign myxoid tumors, because it needs, for its high tendency to recur, a wide-margin surgery. On the other hand, it should be distinguished from malignant myxoid tumors, because it lacks metastatic potential and thus any adjunctive therapy results useless. With a prevalent incidence in women, we retain that it merits a wider recognition also in male urologic pathology.

[Indications for splenectomy in Gaucher's disease. Case report]. / Indicazioni alla splenectomia nella malattia di Gaucher. Caso clinico.

Gaucher's disease is a rare metabolic disorder characterized by the lack of beta-glucocerebrosidase enzyme. In this case report a 26-year-old male patient was, first diagnosed as having splenomegaly and a huge haemangioma, therefore managed by total splenectomy. Histologic examination and specific colouring techniques using PAS and Black Sudan dyes allowed the diagnosis of Gaucher's disease. Preoperative diagnosis is hence fundamental to establish the correct management procedure, which currently may be surgical or medical and/or combined. In fact, following the diagnosis the second step includes the decision-making about splenectomy. Other therapeutic approaches are enzyme replacement therapy and genic therapy. The first may be combined to partial splenectomy, while the latter still needs further evaluations.