Neuroimaging Findings in Children with Constitutional Mismatch Repair Deficiency Syndrome.

BACKGROUND AND PURPOSE: Constitutional mismatch repair deficiency is a hereditary childhood cancer predisposition syndrome characterized by brain tumors and colorectal and hematologic malignancies. Our objective was to describe the neuroimaging findings in patients with constitutional mismatch repair deficiency. MATERIALS AND METHODS: This retrospective study included 14 children with genetically confirmed constitutional mismatch repair deficiency who were referred to 2 tertiary pediatric oncology centers. RESULTS: Fourteen patients from 11 different families had diagnosed constitutional mismatch repair deficiency. The mean age at presentation was 9.3 years (range, 5-14 years). The most common clinical presentation was brain malignancy, diagnosed in 13 of the 14 patients. The most common brain tumors were glioblastoma (n = 7 patients), anaplastic astrocytoma (n = 3 patients), and diffuse astrocytoma (n = 3 patients). Nonspecific subcortical white matter T2 hyperintensities were noted in 10 patients (71%). Subcortical hyperintensities transformed into overt brain tumors on follow-up imaging in 3 patients. Additional non-neoplastic brain MR imaging findings included developmental venous anomalies in 12 patients (85%) and nontherapy-induced cavernous hemangiomas in 3 patients (21%). CONCLUSIONS: On brain MR imaging, these patients have both highly characteristic intra-axial tumors (typically multifocal high-grade gliomas) and nonspecific findings, some of which might represent early stages of neoplastic transformation. The incidence of developmental venous anomalies is high in these patients for unclear reasons. Awareness of these imaging findings, especially in combination, is important to raise the suspicion of constitutional mismatch repair deficiency in routine diagnostic imaging evaluation or surveillance imaging studies of asymptomatic carriers because early identification of the phenotypic "gestalt" might improve outcomes.

Risk factors and associated diseases among preterm infants with isolated lenticulostriate vasculopathy.

OBJECTIVE: To determine the prevalence, risk factors and diseases associated with isolated lenticulostriate vasculopathy (LSV) among preterm infants. STUDY DESIGN: Medical records of 84 preterm infants (gestational age (GA) 25 to 34 weeks) with isolated LSV in a case-control retrospective study over a period of 6.5 years were reviewed and compared with matched control infants. LSV was defined as 'early' if it was documented in head ultrasound (HUS) before or on the fifth day of life and 'late' if it was not present in the first HUS and recorded later during neonatal hospitalization. RESULTS: A 3.9% prevalence of LSV was recorded among preterm infants (GA⩽34 weeks). Study and control groups were similar for all maternal parameters, neonatal outcomes and length of hospitalization. Infants with late LSV had more neonatal complications than control infants and were born with younger GA and lower birth weight in comparison to infants with early LSV. More infants with late LSV needed mechanical ventilation, were diagnosed with bronchopulmonary dysplasia and were hospitalized longer in comparison to infants with early LSV. Urine cytomegalovirus was negative in the entire study group. CONCLUSIONS: No risk factors or specific associated morbidities were identified among preterm infants with early isolated LSV. Infants with late isolated LSV were younger and had overall increased associated morbidities. Long-term outcome studies are needed to determine LSV impact.

Urine sensor device for fluoroscopy time reduction in pediatric voiding cystourethrography.

PURPOSE: We evaluated the feasibility of a using urine sensor for voiding cystourethrography (VCUG) and its implications for fluoroscopy time reduction. MATERIALS AND METHODS: Institutional Review Board approved the study protocol. Study population included children less than 5 years old referred to our institution for VCUG. Patients with known vesicoureteral reflux or any pacing device were excluded from the study. The urine sensor consists of an electrode that senses the fluid, an electrical circuit and an indicator to provide visual signal. The urine sensor electrode was placed on the medial thigh in the proximity of the catheter close to the urethral opening, but without direct contact to it. A standard VCUG examination was performed with retrograde filling of the urinary bladder. Once the bladder was full, fluoroscopy of the voiding stage was initiated when the indicator blinked. Peak kV and fluoroscopy time were recorded. RESULTS: Seven patients underwent VCUG with urine sensor and 22 patients without urine sensor. The urine sensor provided a reliable indication of voiding onset. The fluoroscopy time was significantly shorter with urine sensor use (1.99 min) than without urine sensor use (4.33 min) (p=0.001). In patients with normal VCUG, fluoroscopy time was also significantly shorter with urine sensor use (2.13 min) than without urine sensor use (4.39 min) (p<0.001). CONCLUSION: VCUG studies with the help of the urine sensor are feasible and its use may result in significant reduction in fluoroscopy time.

Concentric bladder wall thickening due to haemorrhage following suprapubic aspiration: ultrasound and CT features.

A 5-week-old baby with coagulopathy due to hepatic mitochondrial disorder developed a bladder haematoma secondary to suprapubic urine aspiration. Unlike previously reported cases, the haematoma manifested itself only as concentric thickening of the bladder wall without an intraluminal component. The ultrasound and CT features are described. Recognition of these findings is important when discussing the differential diagnosis of bladder wall thickening.

Video-assisted thoracoscopic surgery for recurrent spontaneous pneumothorax: the long-term benefit.

BACKGROUND: Management of recurrent primary spontaneous pneumothorax by open surgery was considered the treatment of choice until recently. The major drawbacks of this management are the prolonged postoperative pain and cosmetic results. In the last decade, video-assisted thoracoscopic surgery (VATS) has replaced the routine use of open surgery. Most papers that compared limited open surgery to VATS addressed the early postoperative results, and studies that assessed the long-term results focused primarily on the rate of recurrence and pulmonary function tests. The aim of this study was to compare the outcome of minithoracotomy and VATS with emphasis on patients' long-term, subjective perspective and satisfaction. METHODS: Medical records of patients with recurrent primary spontaneous pneumothorax were retrospectively reviewed. Patients who underwent surgical treatment by limited thoracotomy (63 patients) or VATS (58 patients) more than 3 years ago were enrolled. Hospital medical charts were used to compare the early postoperative results. Outpatient clinic records and a telephone questionnaire were employed to evaluate long-term results. RESULTS: There was no mortality or major morbidity in either group, and hospitalization time was similar. Patients in the thoracotomy group needed significantly higher doses of narcotic analgesia for a longer period. There were two cases of recurrence in the VATS group (3%). Seventy-eight percent of patients in the VATS and 21% in the thoracotomy group classified their pain as insignificant a month following the operation (P < 0.05). Three years following surgery, 97% of the VATS group patients considered themselves completely recovered from the operation compared with only 79% in the thoracotomy group (P < 0.05). Nineteen percent of the thoracotomy group and 3% of the VATS group suffered from chronic or intermittent pain necessitating use of analgesics more than once a month. Thirteen percent of patients from the open procedure group required services from the pain clinic. Patients in the VATS group were, in general, much more satisfied with their operation and with the surgical scars compared with patients from the thoracotomy group. CONCLUSION: We recommend video-assisted surgery as the first-line surgical treatment for patients with recurrent primary spontaneous pneumothorax. This recommendation is based on its somewhat favorable early postoperative course, the superior long-term outcome, and patient satisfaction.

Neonatal lenticulostriate vasculopathy: further characterisation.

BACKGROUND: Lenticulostriate vasculopathy (LSV) is sometimes detected on routine brain ultrasonography in neonates, and is often associated with various perinatal and neonatal abnormalities. However, most reports on LSV are retrospective with no controls. OBJECTIVES: To compare the perinatal and neonatal clinical characteristics of neonates with LSV with matched controls and to summarise all published reports of LSV. DESIGN: A prospective study that summarises the clinical, laboratory, and neurosonographic data of neonates with LSV. METHODS: Of 1184 neonates admitted to the neonatal intensive care unit (NICU) during a three year period, 857 had a routine head ultrasound examination. Twenty one had LSV, and were compared with 42 matched controls with regard to gestational, perinatal, neonatal, laboratory, and neurosonographic characteristics. RESULTS: LSV was detected in 21 of the 857 (2.45%) neonates. It was bilateral in 10 of the 21 cases and located in the thalamus (n = 14) and basal ganglia (n = 7). Infants with LSV were not significantly different from matched controls in most tested variables. However, compared with the control group, the LSV group included significantly more multiple births and more disturbances in amniotic fluid volume, but less meconial amniotic fluid. In addition, the patients with LSV required fewer blood transfusions and less phototherapy. CONCLUSIONS: Except for more multiple births, neonates with LSV did not display more adverse findings than their matched controls.

Non-surgical treatment for post pneumonectomy empyema.

We describe an alternative treatment for postpneumonectomy empyema in patients for which Claggett procedure is inappropriate. During the years 1990-2002 eight patients with postpneumonectomy empyema were treated by continuous soft tube thoracostomy, intrapleural fibrinolysis and antibiotics. The medical records of these patients were reviewed retrospectively. The procedure was well tolerated by all patients and there were no significant complications during the treatment period. One patient died 9 months postpneumonectomy due to metastatic disease. The remaining patients have successfully completed the treatment with no recurrence of empyema. Continuous soft tube drainage with intrapleural fibrinolysis and antibiotics is a safe treatment for postpneumonectomy empyema in patients who are not appropriate candidates for operative management.

Elevated carbohydrate antigen 19-9 in patients with true (epithelial) splenic cysts--Rare or undiscovered?

Carbohydrate antigen 19-9 is a well known marker for pancreatic adenocarcinoma. However, its limitation is its nonspecificity, because elevated levels may be encountered in other gastrointestinal disorders, both benign and malignant. The following case is a patient with a true (epithelial) splenic cyst with elevated serum levels of carbohydrate antigen 19-9.

[Solid and papillary pancreatic neoplasm].

Solid and papillary neoplasm of the pancreas is an interesting and rare malignant tumor. It occurs most commonly in young women. It was first described in 1959 and since then has been referred to by different names, including solid and cystic tumor, solid and cystic epithelial neoplasms, and others. Its malignant potential is low and metastasis is very rare. Treatment includes partial pancreatectomy with full resection of the tumor. The prognosis is generally very good. We present 3 women (aged 17, 19, 39) diagnosed and treated for solid and papillary neoplasm of the pancreas. The unique clinical, histological, and epidemiological characteristics of this tumor are detailed.

Gastric tube gastrectomy.

The incidence of esophageal adenocarcinoma has increased significantly in recent years. Early detection of a small mucosal tumor by endoscopy is occurring more frequently. This, together with improved results of surgical treatment, has created a new population of patients with prolonged post-esophagectomy survival. Adenocarcinoma in the reconstructed gastric tube is no longer a rare finding and is expected to be even more common in the future. We report a case of a patient treated for metachronous gastric tube carcinoma and discuss the steps of the surgical procedure.

Celiac artery aneurysm: diagnosis by color Doppler sonography and three-dimensional CT angiography.

Celiac artery aneurysms are rare vascular lesions that are sometimes found incidentally during abdominal imaging. Their significance is in their potential to rupture, which can lead to death. We present the case of a celiac artery aneurysm diagnosed by color Doppler sonography and 3-dimensional CT angiography.

[Trichobezoars].

Trichobezoars are accumulations of hair casts in the stomach associated with trichophagia. The typical patient is an adolescent female who presents with alopecia and an upper abdominal mass which on moving can cause intermittent gastric outlet obstruction. Only a minority of patients have severe psychiatric disorders. When hair strands extend from the main mass in the stomach, all along the small bowel and reaching the cecum, the condition is termed the Rapunzel syndrome. In about 5% of patients there are separate hair masses in the stomach. The clinical presentation includes abdominal pain, loss of appetite, weight-loss, vomiting, loose stools, pancreatitis, jaundice, anemia and hypoalbuminemia. These signs and symptoms raise the suspicion of malignancy. Complications of bezoars include ulcers, perforation of the bowel, obstruction and intussusception. Diagnosis can be established either by barium swallow or by CT scan. Ultrasound might suggest the diagnosis, but sonographic features are definitely not pathognomonic. Treatment is surgical, as endoscopic removal is usually unsuccessful. We present 2 children in whom trichobezoars were found.

[Carcinoma of the appendix--rare but important].

Villous adenoma of the vermiform appendix is very rare; the treatment of choice is appendectomy. We report a 72-year-old woman with a villous adenoma and a single focus of invasive, colonic adenocarcinoma. This finding required changes in diagnostic procedures and treatment, and altered the prognosis. The purpose of this report is to increase awareness of this phenomenon and to indicate correct management.