Vascular malformations of the thalamus with normal angiograms

We describe two patients with fatal vascular malformations of the thalamus whom we thought had gliomas. They had progressive neurological impairment with subacute onset as adults. Computed tomography showed lesions of increased density with slight post-contrast enhancement; cerebral angiography was normal. Without biopsy, they received radiation therapy without benefit. Two other patients with similar radiological studies have done well with conservative treatment. We believe that these lesions have a distinctive appearance on CT, that vascular malformations can be diagnosed, even with normal cerebral angiograms, and distinguished with reasonable certainty from gliomas.     

Cranial dural arteriovenous malformation and fistula. Radiological diagnosis and management. Review of thirty four patients.

The clinical features, imaging and angiographic findings of thirty four patients with cranial dural arteriovenous malformations and fistulae are presented in four groups. Group 1 – Seven patients with anterior cavernous malformations, predominant superior ophthalmic vein drainage, and symptoms and signs of carotico-cavernous fistula. Group 2 – Twelve patients with malformations of the superior petrosal, transverse and sigmoid sinus regions, presenting predominantly with bruit. Group 3 – Seven patients with malformations of the basal sinuses and prominent cortical venous drainage, presenting with intracranial haemorrhage, headache and impaired cortical function. Intracranial haemorrhage never occured in the absence of cortical venous drainage. Group 4 – Eight patients with infrequent manifestations. Group 1 and 2 patients are readily recognized and diagnosed. Group 3 and 4 patients are often misdiagnosed. Treatment modalities comprised embolisation therapy, surgical excision, and carotid compression. Twenty patients were treated by one or more of these modalities with a successful outcome in thirteen patients. Group 1 patients are the most amenable to trans-arterial embolisation. Carotid compression as the sole modality of treatment was successful in four patients. Unless the fistula is successfully closed, Group 3 patients and patients who present with cervical or thoracic myelopathy carry a grave prognosis. There is need for greater radiologist awareness of Group 3 and the rarer presentations, particularly myelopathy. With the exception of one patient, the morphological features of our cases are consistent with the now-accepted view that these lesions are acquired arterio-venous fistulae and not congential malformations.     

Treatment guidelines of lymphatic malformations of the head and neck

Lymphatic malformations, traditionally called lymphangiomas, are diseases caused by development errors of the lymphatic system. About 90% of the cases occur within 2 years of age, except a few cases which occur in adulthood, and approximately 75% of the lesions are located in the head and neck region. The lesions can grow rapidly with infection, trauma or bleeding, resulting in disfigurement as well as severe impairment of respiration, swallow and speech. Although lymphatic malformations are benign lesions, they rarely resolve spontaneously, their infiltrating nature coupled with the difficulty in distinguishing involved vital structures of head and neck from adjacent normal tissues makes complete surgical resection even more difficult. The likelihood of postsurgical recurrence and complications is thus higher than other vascular lesions. Surgical resection, sclerotherapy and laser therapy are currently the main treatment modes of lymphatic malformations. Various treatment options have their advantages and disadvantages, the selection of treatment modalities should depend on the patient’s individual status and available technology and expertise. The treatment protocol should be individualized, comprehensive as well as sequential in order to obtain the best treatment outcome. Based on published literatures and clinical experiences, we devised the treatment guideline for management of head and neck lymphatic malformations. This protocol will be reviewed and updated periodically to include cutting edge knowledge to provide the best treatment options to benefit our patients.     

Pediatric primary lung adenocarcinoma in the absence of congenital pulmonary airway malformation

Primary lung adenocarcinoma is a rare entity in the pediatric population, especially in the absence of an underlying congenital pulmonary airway malformation. Primary lung malignancies in pediatric patients are rare and constitute 0.2 % of all childhood malignancies. EGFR mutations and congenital airway malformations have been identified as etiological factors in the development of precancerous lesions that eventually progress to malignancy. The availability of genome sequencing and advanced imaging has made it possible to associate primary lung adenocarcinoma with mutations and structural malformations. Early diagnosis with the help of these techniques may result in surgical resection during early stages of the disease and possibly provide definitive treatment. Development of lung adenocarcinoma in pediatric patients in the absence of the above factors has been recorded anecdotally. It is possible that these patients may harbor a yet unknown set of mutations and recording this cases and preserving their tissues is of vital importance in the detection of these yet unknown etiologies.     

Effect of Bifidobacterium longum and inulin on gut bacterial metabolism and carcinogen-induced aberrant crypt foci in rats

The effect of Bifidobacterium longum (4 x 10(8) viable cells/g diet) and a derivative of inulin ('Raftiline HP'; 5% w/w in diet) on colonic aberrant crypt foci (ACF) induced by the colon carcinogen azoxymethane (AOM) has been studied. The concentration of ammonia, a putative tumour promoter produced by bacterial degradation of protein and urea, and the activities of certain bacterial enzymes thought to play a role in colon carcinogenesis, beta-glucuronidase and beta-glucosidase were also assayed. Consumption of either B. longum or inulin was associated with a decrease (26 and 41%, respectively) in AOM-induced small ACF (i.e. those comprising 1-3 aberrant crypts per focus). Combined administration of the bifidobacterium and inulin resulted in more potent inhibition of ACF than administration of the two separately, achieving 80% inhibition of small ACF. Furthermore, the combined administration significantly decreased the incidence (by 59%) of large ACF (>4 aberrant crypts per focus), which are considered to be predictive of eventual tumour incidence. Since the dietary treatments were started 1 week after the carcinogen dose, the results suggest that B. longum and inulin may be affecting the early promotion phase of the carcinogenic process. Consumption of diets containing B. longum, inulin or both were also associated with decreases in beta-glucuronidase activity and ammonia concentration in the caecal contents. Both these factors have been associated with carcinogenesis of the colon in experimental animal models. In rats given inulin-containing diets (with or without B. longum) an increase in caecal wt and beta-glucosidase activity and a decrease in caecal pH were observed. The results suggest that consumption of B. longum or inulin was associated with potentially beneficial changes in caecal physiology and bacterial metabolic activity in relation to tumour risk and in the incidence of putative preneoplastic lesions in the colon. The results also indicated that combined treatment with the two agents was more effective in reducing colonic lesions.      

Pulmonary arteriovenous malformation: a rare anterior mediastinal mass

Pulmonary arteriovenous malformations are rare pulmonary vascular lesions which are associated with Osler Weber Rendu syndrome (hereditary haemorrhagic telangectasia). They act as right‐to‐left shunts and have cardiovascular and embolic complications. We present a patient with an apparent anterior mediastinal mass secondary to a pulmonary arteriovenous malformations which was successfully treated percutaneously.     

Cranial base surgery. Results in 183 patients

Objective To learn about the effects of cranial base surgery.Design Cohort study with a mean follow-up of 30 months.Setting Population-based.Patients A consecutive sample of 183 patients who underwent cranial base surgery; 118 patients had malignant skull base tumors, majority were previously treated; 50 had benign tumors, 9 patients had congenital malformations of the skull base; 3 patients had inflammatory lesions, and 3 had traumatic defects of the skull base.Main outcome measures Disease-free interval and overall survival as well as rate of complications and functional statusIntervention Cranial base surgery was followed by radiotherapy (in previously untreated patients).Results After completion of follow-up (30 months, mean), 30 (25.4%) patients had died of their malignant tumors and 8 (6.8%) had died of other causes. One patient (0.84%) was lost to follow-up. The overall cancer survival without regard to histologic type was 67% (63% with no evidence of disease). Among the patients who were treated for benign neoplasm 72% were NED at a mean 39 months of follow-up. The group of patients with congenital malformations, inflammatory, and traumatic lesions demonstrated successful correction of their pre-surgical problem with skull base surgery. One patient (invasive aspergillosis) died of disease. The overall surgical/medical mortality was 2%, complication rate was 33% and Karnofsky performance scale was improved or unchanged postoperatively in 83% of patients. The average duration of surgery, number of blood transfusions used and the length of the hospital stay was 10 hours, 3 units, and 15 days respectively.Conclusions Cranial base surgery is a valid surgical technique for cranial base afflictions. In this study it was found to be beneficial in controlling benign as well as malignant disease and be the treatment of choice in selected congenital malformations, trauma, and inflammatory lesions.This article is reprinted with permission from Otolaryngology-Head/Necksurgery (MOSBY Publish.)     

Dose-dependent reduction of dietary protein-induced colonocyte DNA damage by resistant starch in rats correlates more highly with caecal butyrate than with other short chain fatty acids

Previous studies have shown increased levels of colonocyte DNA damage (as measured by the comet assay) and thinning of the colonic mucus layer in rats fed higher dietary protein as casein or red meat with highly digestible starch. Feeding resistant starch (RS) as high amylose maize starch (HAMS) opposed these changes. However, the dietary level of HAMS was relatively high (48% by weight) so this study was conducted to establish whether HAMS had the same effects at lower dietary levels. Adult male rats were fed a diet containing 25% casein with 0%, 10%, 20%, 30% or 40% HAMS for 4 wk. DNA single strand breaks and 8-hydroxyguanosine levels were measured in isolated colonocytes by the comet assay. As expected, comet tail moment was greatest and the mucus barrier thinnest in rats fed 0% HAMS. DNA damage was reduced and the mucus barrier thickened in a logarithmic dose-dependent manner by HAMS. There was no significant difference in 8-hydroxyguanosine between dietary groups. Caecal and fecal short chain fatty acid (SCFA) pools rose with the increased level of dietary HAMS. DNA damage of colonocytes correlated negatively with caecal SCFA but the strongest correlation was with caecal butyrate, which is consistent with the proposed role of this SCFA in promoting a normal cell phenotype. These data show that HAMS prevents protein-induced colonic DNA damage in a dose-dependent manner. Inclusion of 10% HAMS was found to be sufficient to oppose colonocyte DNA damage, and to increase caecal and fecal SCFA pools.     

Clinicopathological profile of cervicofacial masses in pediatric patients

Four hundred pediatric patients (0-12 years of age) who presented with cervicofacial masses were evaluated clinically and pathologically. Infl ammatory lesions were the commonest (48%) followed by congenital and developmental malformations (26%). In infl ammatory lesions, reactive lymphadenopathy was the commonest (16%) followed by tubercular lymphadenitis (11.5%). In congenital and developmental malformations hemangiomas were the commonest (12%) followed by TG cyst (6.5%). Cystic lesions (non-developmental) constituted 19%, benign neoplastic lesions 7% and malignant neoplastic lesions 2% of the cases. Males predominated the series (53.5%) and commonest age group involved was 10–12 years (20.5%). FNAB was performed in 93% of cases and HPE was available in 51.5% of cases. Sensitivity of FNAB in our series was 87.4%.     

Cystic hygroma of the breast: a rare lesion

Lymphangiomas are congenital malformations of lymphatic vessels. More than 50% of these lesions are present at birth; 90% are diagnosed by the age of 2. These lesions do not expand very rapidly but they tend to infiltrate surrounding tissues; their degeneration into malignant tumors is an extremely rare occurrence. They are mostly located in the neck region and the axilla; breast lymphangioma is very rare. Surgery is usually performed for aesthetic reasons and in order to make a differential diagnosis with other, more common lesions. The surgical procedure involves the excision of the mass; other methods, such as radiotherapy and sclerotherapy, have proved to be completely ineffective.     

Radiosurgery for Intracranial Malignancies

Radiosurgery was historically designed as a technology to be used for the treatment of functional disorders, benign tumors, and vascular malformations. In the last 5 years, malignant lesions have become an increasingly common target for the radiosurgeon. In fact, by 1994 the most common disease treated with radiosurgery in the United States was metastatic disease. Published data suggest that radiosurgery offers excellent local control for intracranial metastatic lesions regardless of location or histology with the majority of patients demonstrating an improved quality of life. Recent information from the Joint Center for Radiation Therapy suggests that radiosurgery compares favorably with interstitial brachytherapy for both recurrent as well as in newly diagnosed patients with malignant gliomas in terms of improved survival and the need of surgery and steroid support for symptomatic radiation changes. Prospective studies (Phase I through III) are ongoing to determine the ultimate role of radiosurgery in the management of patients with newly diagnosed and recurrent malignant gliomas, recurrent pediatric brain tumors disease, and patients with single or multiple intracranial metastases.     

Sensitivity of patients with familial cerebral cavernous malformations to therapeutic radiation

Familial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two‐hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the radiation ports, supporting radiation as an accelerator of lesion formation and suggesting implications for risks of radiation in this disease.     

Radiosurgery at the Royal Adelaide Hospital: The first 41/2 years’ clinical experience

Radiosurgery refers to the treatment of small lesions localized by stereotactic technology using highly focused radiation. This review utilizes prospectively gathered data from the Royal Adelaide Hospital Radiosurgery unit to summarize experience with the first 62 patients (65 lesions) treated between November 1993 and May 1998. This experience included acoustic neuromas (23 patients), arteriovenous malformations (18), brain metastases (12), meningiomas (6), and glomus tumour, subependymoma, dural arteriovenous fistula (1 each). Although follow up is relatively short, the outcome in terms of morbidity and tumour control is thus far comparable with results reported in the literature. Radiosurgery provides a viable alternative to neurosurgery and conventional external beam radiotherapy for several benign and malignant intracranial lesions.     

Cowden syndrome: a major indication for extensive cancer surveillance

Cowden syndrome (CS) or multiple hamartoma syndrome is a rare genetic disorder related to increased cellular proliferation of ectodermal, mesodermal, and endodermal tissues. It is characterized by multiple hamartomas and malignant neoplasms. Cancers of the breast, thyroid, endometrium, and skin are the most prevalent ones. Although close surveillance for cancer is required, many cases are undiagnosed or diagnosis comes at a late stage, partly due to the variable phenotype of the disease. Detection of multiple skin lesions of different characteristic in a patient with other local and systemic pathologies prompts further evaluation for CS. A case of CS, whose diagnosis is based upon skin lesions, alimentary tract polyposis, mental dullness, and history of spinal arteriovenous malformations, is discussed in this report.     

Cerebral Venous Malformations

Cerebral venous malformations (CVM) are increasingly being recognised with the widespread use of CT scanning. Five cases are presented which demonstrate typical angiographic features and CT findings. These lesions when located in the cerebral hemispheres are benign and have been distinguished from the better known arteriovenous malformations on the basis of their characteristic angiographic features. CT findings have been considered nonspecific but our early post contrast CT scans demonstrate characteristic features suggesting that in many cases the diagnosis of cerebral venous malformations may be made on the CT scan alone.     

Special issues in the management of gliomas in children with neurofibromatosis 1

Neurofibromatosis 1 (NF1) is a common multisystem disorder that is frequently associated with neoplastic and non-neoplastic lesions within the central nervous system. Improvements in neuroimaging have led to increased detection of both types of lesions. Focal areas of increased T2 signal represent the most common abnormalities detected. The vast majority of such lesions are non-neoplastic and fluctuate in number and size during childhood. Optic pathway tumors are second in frequency and generally manifest an indolent natural history, although some lesions will increase in size over time and lead to progressive visual impairment. A smaller percentage of patients will develop gliomas within the cerebral and cerebellar hemispheres of brain-stem. This article will review areas of controversy in the evaluation and follow-up of patients with NF1 and will present our approach to these issues. We will also discuss therapeutic considerations in these patients that take into account the unique features of the underlying disorder.     

Arterio venous malformation of the nose and forehead

Congenital arterio-venous malformations of the head and neck are uncommon lesions encountered in clinical practice. They can have a range of clinical effects from mild disfigurement to cardiac failure. Treatment of these lesions poses a challenge to the surgeon due to their extreme vascularity and high incidence of recurrence. Highly selective arterial embolization and surgical resection offer the best chance for cure. The ease presented is that of a congenital a v malformation of the face, which was treated successfully by surgical excision.     

Pregnancy outcome after treatment for Wilms tumor: a report from the National Wilms Tumor Study Group.

PURPOSE: This study was undertaken to determine the effect, if any, of prior treatment with radiation therapy or chemotherapy for Wilms tumor diagnosed during childhood or adolescence on live births, birthweight, and the frequency of congenital malformations. PATIENTS AND METHODS: We reviewed pregnancy outcomes among survivors of Wilms tumor treated with or without irradiation to the flank or tumor bed on National Wilms Tumor Studies 1, 2, 3, and 4 using a maternal questionnaire and review of both maternal and offspring medical records. RESULTS: We received reports regarding 427 pregnancies with duration of 20 weeks or longer, including 409 liveborn singletons for whom 309 sets of medical records were reviewed. Malposition of the fetus and early or threatened labor were more frequent among irradiated women. Both were more frequent among women who received higher radiation therapy doses. The offspring of the irradiated female patients were more likely to weigh less than 2,500 g at birth and to be of less than 36 weeks gestation, with both being more frequent after higher doses of radiation. An increased percentage of offspring of irradiated females had one or more congenital malformations. CONCLUSION: Women who receive flank radiation therapy as part of their treatment for Wilms tumor are at increased risk of fetal malposition and premature labor. The offspring of these women are at risk for low birthweight, premature (< 36 weeks gestation) birth, and the occurrence of congenital malformations. These risks must be considered in the obstetrical management of female survivors of Wilms tumor.     

First Branchial Cleft Anomalies: Avoiding the Misdiagnosis

First branchial cleft anomalies are a very rare entities accounting for less than 1 % of all branchial cleft malformations. They are often misdiagnosed for other cystic lesions occurring in parotid gland and inadequately treated (incision and drainage or incomplete excision) leading to multiple recurrences. We report a series of four patients who were previously operated (incision and drainage) for misdiagnosed first branchial cleft anomalies with subsequent recurrences. All patients underwent superficial parotidectomy with complete tract excision using facial nerve monitoring to prevent iatrogenic injury because of extensive fibrosis. We discuss the literature pertaining to first branchial cleft anomalies, their varied presentations and their relationship to facial nerve in parotid gland and importance of facial nerve monitoring in revision surgery.