Inversion-mediated gene fusions involving NAB2-STAT6 in an unusual malignant meningioma.

BACKGROUND: Meningiomas are the most common primary intracranial tumours, with ∼3% meeting current histopathologic criteria for malignancy. METHODS: In this study, we explored the transcriptome of meningiomas using RNA-Seq. RESULTS: Inversion-mediated fusions between two adjacent genes, NAB2 and STAT6, were detected in one malignant tumour, creating two novel in-frame transcripts that were validated by RT-PCR and Sanger sequencing. CONCLUSION: Gene fusions of NAB2-STAT6 were recently implicated in the pathogenesis of solitary fibrous tumours; our study suggested that similar fusions may also have a role in a malignant meningioma with unusual histopathologic features.

Spinal intramedullary cysticercosis in a five-year-old child: case report and review of the literature.

Spinal intramedullary cysticercosis is rare and usually afflicts adults. We report the case of a 5-year-old Mexican girl with back pain who had a complex thoracic spinal intramedullary mass on magnetic resonance imaging and a positive immunoblot for Taenia solium. Surgery revealed a cystic mass containing a cysticercus. Cysticercosis should be suspected as the cause of an intramedullary spinal mass in a patient from an endemic area.

S-carboxymethylcysteine in the treatment of glue ear: quantitative systematic review.

OBJECTIVE: To establish the clinical relevance of S-carboxymethylcysteine in the treatment of glue ear in children using measures approximating those saving a child from operation for grommet insertion. DATA SOURCES: Cochrane Library, MEDLINE, EMBASE, PubMed, reference lists and reviews were used for randomised controlled trials comparing S-carboxymethylcysteine with placebo. Seven trials involving 283 children and 146 ears were found. REVIEW METHODS: Studies were randomised, double-blind comparisons of S-carboxymethylcysteine (any dose and duration) with placebo in otitis media with effusion. Quality of trial reporting and validity of methods were assessed and used in sensitivity analysis. Main outcomes were relative benefit and number-needed-to-treat to prevent one grommet operation compared with placebo. RESULTS: Successful outcomes were obtained in 17% of children given placebo (range 5% to 38% in individual studies) and in 35% of children given S-carboxymethylcysteine (range 22 to 80%). For combined data (children and ears) the relative benefit was 2.0 (95%CI 1.4 to 2.8) and number-needed-to-treat 5.5 (95% confidence interval 3.8 to 9.8). Pooled data from trials of higher reporting quality (4/7) or methodological validity (3/7) tended to have lower efficacy but were not statistically different from those of lower quality or validity. CONCLUSION: S-carboxymethylcysteine is effective in the treatment of children with glue ear. For every five or six children treated with S-carboxymethylcysteine over one to three months, one will not undergo surgery for grommet insertion who would have done had they been given placebo. The confidence in this conclusion is limited because studies included relatively few children.

Secondary amyloidosis as a life-ending event in multifocal motor neuropathy.

Multifocal motor neuropathy (MMN) is a disorder of peripheral nerve often associated with a high monosialoganglioside (GM1) antibody and multifocal conduction block. It has a chronic, indolent course with involvement of predominantly peripheral motor nerves, usually in an asymmetric fashion. There have been few reported cases of progression to frank quadriplegia. Secondary amyloidosis refers to the deposition of amyloid in various tissues due to an underlying chronic inflammatory state. We report the first case, to our knowledge, of a patient with MMN associated with high titer of GM1 antibody who developed acute paraplegia with both cranial nerve and worsening sensory involvement associated with multiorgan compromise due to a secondary amyloidosis involving the myocardium.

Drop metastasis from sinonasal undifferentiated carcinoma: clinical implications.

STUDY DESIGN: The first reported case of multiple intradural, extramedullary spinal metastasis from sinonasal undifferentiated carcinoma is presented. OBJECTIVES: To elucidate the mechanisms by which metastatic disease invades the spinal axis, and to discuss the possibility of spinal drop metastasis from head and neck tumors that invade the dura. SUMMARY OF BACKGROUND DATA: Sinonasal undifferentiated carcinoma is a rare yet aggressive neoplasm of the upper airways and anterior skull base. This neoplasm is known to invade the cranial vault and brain locally. However, it has not previously been reported to seed the cerebrospinal fluid or result in drop metastasis. Such drop metastasis may result in significant neurologic deficit if not diagnosed and treated in a timely manner. METHODS: This report is based on a single patient treated by a multidisciplinary team from the departments of neurosurgery, otolaryngology, and radiation oncology at the University of Southern California School of Medicine. RESULTS: This patient initially underwent resection and local radiation therapy for sinonasal undifferentiated carcinoma of the anterior skull base. At the time of surgery, the tumor was noted to violate the dura and arachnoid along the subfrontal plane. At 11/2 years after the initial treatment, a bandlike distribution developed at T2 as well as paresthesias and numbness below that level. Imaging of the spine showed an intradural, extramedullary tumor at T2 consistent with a schwannoma or meningioma. The patient underwent a laminectomy and tumor resection, which showed poorly differentiated sinonasal carcinoma. Local radiation therapy was administered, and the patient experienced complete recovery of neurologic function. Bilateral leg pain and weakness developed 14 months later. Magnetic resonance imaging of the spine showed a new intradural, extramedullary lesion at T12, remote from the first lesion. This second metastasis was managed with surgical resection and adjuvant radiation therapy. CONCLUSIONS: This is the first reported case of a sinonasal carcinoma leading to intradural extramedullary metastasis. The primary tumor likely seeded the cerebrospinal fluid, thus resulting in drop metastasis. Patients with sinonasal undifferentiated carcinoma that invades the dura should be monitored closely for evidence of metastasis before symptoms develop.

The role of Mucodyne in reducing the need for surgery in patients with persistent otitis media with effusion.

UNLABELLED: A recent meta-analysis suggested a possible beneficial effect of carboxymethylcysteine (Mucodyne) in resolving otitis media with effusion (OME), but the methodology in several of the included trials was flawed. A double-blind randomised controlled trial (RCT) involving 163 patients (78 randomised to Mucodyne and 85 to placebo) was therefore performed. MAIN OUTCOME MEASURE: operative intervention or not. Of the 28 patients with resolved OME, 17 were in the Mucodyne group and 11 in the placebo group. Although it appeared that patients treated with Mucodyne were 1.68 times more likely to undergo resolution of OME than patients receiving placebo, this did not reach statistical significance. [Risk ratio of 1.68 (95% C.I., 0.74-3.37)]. chi2 test (df = 162) = 2.24 (P = 0.134). The absolute risk difference in the study was 8.5% (95% C.I., -3-20). We cannot exclude the possibility that Mucodyne is as beneficial as a 20% additional resolution of OME, or as harmful as a 3% decrease in the resolution of OME.

Giant cell tumour of the hyoid--first reported case.

Giant cell tumours of bone are most commonly found in the epiphyses of weight-bearing long bones. They are rarely found in the head and neck and only 17 cases involving the laryngeal framework have been reported. To date, there have been no reports of a giant cell tumour arising from the hyoid bone. We present such a case which presented as a lump overlying the greater cornu of the hyoid, review the literature and discuss the management of this locally aggressive tumour.

A study of vestibular schwannomas using positron emission tomography and monoclonal antibody Ki-67.

OBJECTIVE: This study aimed to evaluate the role of positron emission tomography (PET) as an in vivo determinant of tumor aggressiveness and growth. STUDY DESIGN: The study design was a prospective pilot study. SETTING: Positron emission tomography was performed at the Clarke Institute of Psychiatry. All patients were treated at the Sunnybrook Health Science Centre. Both institutions are affiliated with the University of Toronto, Toronto, Canada. PATIENTS: The study consisted of five consecutive patients with vestibular schwannomas with tumor size of 1 cm or larger within the cerebellopontine angle. One was a recurrent tumor and four were primary tumors. INTERVENTIONS: Preoperative PET studies were conducted using 18-fluorodeoxyglucose (FDG) as a radionuclide tracer to measure glucose metabolism within tumors. Tumors were processed and immunostained against Ki-67 nuclear antigen; their proliferative potentials were quantified based on immunoreactivity of tumor cells. MAIN OUTCOME MEASURES: Tumor metabolic activity on PET was compared with that of contralateral cerebellum to arrive at an FDG index. This number was compared with clinical parameters and Ki-67 reactivity. RESULTS: On PET, all tumors showed less metabolic activity than the cerebellum. The FDG uptake varied greatly between tumors independent of clinical parameters. All the tumors had a low proliferative index (<5%) with immunohistochemistry; there were quite a bit of intralesional variations in proliferative activities. CONCLUSION: Large tumor size and recurrent disease did not correlate well with increased FDG uptake on PET. Similarly, they did not show increased cellular activities as expressed by Ki-67 immunostaining.

Cytologic features of hemangioblastoma: comparison with meningioma, anaplastic astrocytoma and renal cell carcinoma.

OBJECTIVE: To compare the features of intraoperative smears of hemangioblastomas with those of tumors with which it is most likely to be confused: meningiomas, anaplastic astrocytomas and renal cell carcinomas. STUDY DESIGN: Examples of hemangioblastomas with high-quality intraoperative smears were retrieved from the files of University Hospital, University of Southern California and Los Angeles County-University of Southern California. The characteristics of these smears were compared to those of meningiomas, anaplastic astrocytomas and renal cell carcinomas by two observes. RESULTS: Smears of hemangioblastomas were cellular but remarkably cohesive. Cytoplasmic borders were indistinct. The nuclei were hyperchromatic and mildly pleomorphic and had a relatively evenly dispersed chromatin pattern. Hemosiderin was invariably present. Smears of meningiomas, anaplastic astrocytomas and renal cell carcinomas were more discohesive than those of hemangioblastomas. Smears of hemangioblastomas lacked the cytoplasmic fibrillarity of those of astrocytic neoplasms and distinct cytoplasmic borders seen in smears of renal cell carcinoma. The nuclear features of the four neoplasms studied also differed. CONCLUSION: Smears of hemangioblastomas have characteristic features that differ reliably from those of meningiomas, anaplastic astrocytoma and renal cell carcinoma, neoplasms that commonly enter the differential with hemangioblastoma. Thus, a cytologic smear preparation made at the time of frozen section may be an invaluable aid in the intraoperative diagnosis of hemangioblastoma.

The role of endoscopic stapling diverticulotomy in recurrent pharyngeal pouch.

Endoscopic stapling diverticulotomy is an increasingly popular treatment option for pharyngeal pouch. It has been our treatment of choice for the condition for over three years. Of the over 50 cases treated using the technique, three were performed for recurrent pouches--two following previous endoscopic stapling diverticulotomy and one following previous external excision. We describe these three cases to highlight the advantages and effectiveness of the technique in recurrence cases.

Fibrous dysplasia and ossifying fibroma of the paranasal sinuses.

Fibro-osseous lesions involving the paranasal sinuses, the mid-face and anterior skull base are uncommon. In addition, there appears to be no clear pathological or clinical classification that embraces the variety of lesions that exhibit such diverse pathological and clinical behaviour, yet may still be referred to as a fibro-osseous lesion. The diagnosis of fibrous dysplasia and ossifying fibroma is made on a combination of clinical, radiological and pathological criteria. This paper emphasizes the clinical and pathological differences between fibrous dysplasia and ossifying fibroma. The more aggressive clinical behaviour of the latter is highlighted and a more radical surgical approach is recommended. In contradistinction, fibrous dysplasia can exhibit a more benign behaviour and radical surgery is not always justified. A clinicopathological distinction between these two conditions is important from a management perspective despite the fact that they both may be encompassed under the 'umbrella' term fibro-osseous lesion.

Multiple sclerosis: a consideration in acute cranial nerve palsies.

OBJECTIVE: This study aimed to heighten the awareness of multiple sclerosis (MS) as a cause of multiple acute cranial nerve palsies. DATA SOURCES: The authors report on a case with audiovestibular and facial nerve deficits as the manifesting symptoms of MS. A literature review of brain stem-presenting clinical features of MS was carried out using key words in a Medline search from 1969 through 1996. In addition, relevant articles from earlier reports were obtained. CONCLUSION: Brain stem involvement occurs as the presenting feature of MS in up to 15% of cases. Prompt diagnosis and early treatment may reduce morbidity of this common neurologic condition, and a high index of suspicion needs to be maintained to avoid misdiagnosis.

Prognostic factors in intraoperative facial nerve monitoring for acoustic neuroma.

OBJECTIVES: To determine the predictive value of intraoperative threshold stimulus for facial nerve outcome and the prevalence and prognostic value of persistent trains of activity and frequent spontaneous or mechanically induced contractions during acoustic neuroma surgery. STUDY DESIGN: Prospective recording and subsequent review of facial nerve activity. SETTING: Tertiary referral centre. PATIENTS AND METHODS: Consecutive patients undergoing acoustic neuroma surgery. Intraoperative facial nerve activity was digitised and stored on a personal computer for future analysis. Operative events were flagged. Recordings were available in 27 patients. MAIN OUTCOME MEASURES: Frequent mechanically induced contractions (< 20), prolonged trains of facial nerve activity (total time > 199 seconds), and facial nerve brainstem stimulus threshold were correlated with facial nerve outcome. RESULTS: A brainstem stimulus threshold > 0.1 mA was significantly associated with intermediate or poor facial nerve function (House-Brackmann grade > 2) on the sixth postoperative day, at 1 month and 6 months. Patients with normal or near-normal facial function on the first day and a threshold of > 0.1 mA were significantly more likely to develop a delayed facial nerve palsy. Frequent contractions were noted in 74% of patients and persistent train activity in 59%. Neither was predictive of facial nerve outcome. CONCLUSIONS: An elevated brainstem threshold is helpful in predicting delayed facial nerve palsy and suboptimal facial nerve outcome. Persistent train activity and frequent contractions, do not have major prognostic significance.

Skin tethering after dilatational percutaneous tracheostomy.

Percutaneous tracheostomy is increasingly preferred for patients in the Intensive Care Unit. It is a convenient method with a low incidence of complications. Skin tethering has not previously been emphasized as a complication of this technique and, although primarily cosmetic, may result in significant morbidity.

Level of cytomegalovirus (CMV) DNA in cerebrospinal fluid of subjects with AIDS and CMV infection of the central nervous system.

The objective of this study was to correlate cytomegalovirus (CMV) DNA levels in the cerebrospinal fluid (CSF) of subjects with AIDS with clinical and pathologic findings attributable to CMV infection of the central nervous system (CNS). CMV polymerase chain reaction (PCR) was done on serial dilutions of CSF samples from 24 AIDS patients with autopsy-proven CNS disorders. CMV DNA was detected in CSF from 12 of 13 subjects with evidence of CMV infection of the brain or spinal cord but in none of 11 subjects without autopsy evidence of CMV CNS infection. Subjects whose CSF contained > 10(3) CMV DNA molecules/8 microL of CSF had severe CMV CNS disease (e.g., ventriculoencephalitis). PCR appears to be more useful than clinical and neuroradiologic findings for documenting CMV infection of the CNS in patients with AIDS. Quantitation of CMV DNA in CSF shows promise for evaluation of the extent of involvement.

Seeding of a parotid pleomorphic adenoma.

Recurrent pleomorphic adenoma of the parotid usually occurs in the distribution of the primary procedure. There are numerous reports of widespread local recurrence and a few reported cases of distant metastases. Extensive seeding throughout the entire ipsilateral neck is rare. Treatment involves a combination of radical surgery and radiotherapy. The potential for malignant transformation demands close follow-up of younger patients particularly.

Sjogren's cerebritis complicated by subarachnoid hemorrhage and bilateral superior cerebellar artery occlusion: case report.

We report a case of chronic Sjogren's cerebritis complicated by bilateral superior cerebellar artery occlusion and diffuse subarachnoid hemorrhage. Although primary Sjogren's syndrome with chronic leptomeningeal involvement has been well documented and a spectrum of central nervous system disease previously outlined, no case of intracranial subarachnoid hemorrhage with major intracranial vessel occlusion has been reported.

Hypothalamic chordoma. Case report.

The case is reported of a 51-year-old woman found to have a hypothalamic mass with the histological features typical of chordoma. This represents the first description of a chordoma arising within the brain.