[Spinal dural arteriovenous fistula presented with rapidly progressive myelopathy, longitudinally extensive spinal cord lesion, pleocytosis with polymorphonuclear predominance, and decreased cerebrospinal fluid glucose levels: a case report].

A 75-year-old woman developed low back pain, weakness of the lower extremities, and urinary retention. On day 7 after the onset of symptoms, she was brought to the emergency department of our hospital by an ambulance because of progressive weakness of both lower extremities. Spine MRI showed longitudinally extensive spinal cord lesion (LESCL) at the Th8-Th11 spinal cord level and flow voids around the lesions. Lumbar puncture revealed a normal opening pressure, yellowish appearance, pleocytosis with polymorphonuclear predominance, and decreased cerebrospinal fluid (CSF) glucose levels. Based on the rapidly progressing myelopathy, LESCL, and CSF findings, we initially diagnosed the patient with myelitis and administered acyclovir and high-dose intravenous immunoglobulin on day 7. Spine MRI with gadolinium-enhancement showed longitudinally extending flow voids of the thoracic cord, and digital subtraction arteriogram (DSA) revealed arteriovenous shunt on the dura with dilated and tortuous intradural veins. We finally diagnosed her with spinal dural arteriovenous fistula (SDAVF). Cases of SDAVF might be initially misdiagnosed as myelitis because of showing rapid progressive myelopathy, pleocytosis with polymorphonuclear predominance, and decreased CSF glucose levels. Lumbar puncture and steroid administration for the cases of SDAVF could aggravate the patient's neurological symptoms. Therefore, lumbar puncture and initiation of immunotherapy should be avoided until SDAVF is completely excluded in patients with suspected myelitis on spine MRI without gadolinium-enhancement, even if their neurological symptoms progress rapidly.

Hyperperfusion syndrome after trapping with high-flow bypass for a giant paraclinoid internal carotid artery aneurysm.

BACKGROUND: Hyperperfusion syndrome associated with aneurysm surgery is rare. The occurrence of the syndrome after trapping with high-flow bypass has not been described previously. Herein, we present a case of the syndrome that occurred after trapping with high-flow bypass of an unruptured giant paraclinoid internal carotid artery (ICA) aneurysm. CASE DESCRIPTION: The patient was a 68-year-old woman with progressive loss of vision in her left eye. After a diagnosis of left giant ICA aneurysm, she underwent successful trapping with high-flow bypass. No new neurologic deficits were observed after surgery. Computed tomography on the same day and magnetic resonance imaging on the next day revealed no hemorrhage or infarction. The patient had a headache and transit motor aphasia on postoperative day (POD) 8. Arterial spin-labeling magnetic resonance perfusion imaging on the same day and single photon emission CT on POD 10 demonstrated hyperperfusion in the left cerebral cortex. The symptoms gradually improved over a week, and she had no new neurologic deficits when discharged from hospital. CONCLUSIONS: This report suggests that hyperperfusion syndrome after trapping with high-flow bypass, although rare, should be considered in patients with giant aneurysm if they present with headache and neurologic deficits after a delay.

Radiation-induced gliomas: a report of four cases and analysis of molecular biomarkers.

Radiation-induced glioma (RIG) is a rare secondary glioma. The tumors morphologically resemble their sporadically arising counterparts. Recently, the WHO classification of tumors of the central nervous system was revised to incorporate molecular biomarkers together with classic histological features. The status of molecular biomarkers in RIG, however, remains unclear. The objective of this study was to investigate if commonly accepted glioma-specific biomarkers are relevant in RIGs. Among 269 gliomas diagnosed as WHO grade 2, 3 and 4 in our institution, four were diagnosed as RIGs. Immunohistochemical (IHC) staining for isocitrate dehydrogenase 1 (IDH1), p53, alpha thalassemia/mental retardation syndrome X-linked (ATRX), and H3K27M, and direct DNA sequencing of IDH1/2, telomerase reverse transcriptase (TERT) promoter, Histone H3.3 (H3F3A) and B-Raf (BRAF) genes was performed. All tumor specimens were IDH1-, p53- and H3K27M-negative. The nuclei of tumor cells in all cases exhibited positive staining for ATRX. In direct DNA sequencing analysis, no IDH1, IDH2, TERT promoter, H3F3A or BRAF mutations were found in any of the cases. Our findings suggest that these characteristic glioma-associated molecular mutations may be rare events in RIGs. More RIGs need to be tested for analysis of molecular biomarkers to clarify the clinical and histopathological spectra of this tumor.

Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation.

OBJECT: Although atypical teratoid/rhabdoid tumor (AT/RT) is known to generate through inactivation of the hSNF5/INI1 gene on chromosome 22q, the downstream molecular mechanism remains unclear. We histologically and molecularly reviewed our pediatric brain tumors for unrecognized AT/RTs and evaluated the role of cyclin D1, a potential molecular target of hSNF5/INI1. METHODS: We analyzed 16 tumors under three years of age: seven medulloblastomas, three anaplastic ependymomas (E IIIs), two each of supratentorial primitive neuroectodermal tumors (sPNETs) and choroid plexus carcinomas (CPCs), and one each of neuroblastoma and pineoblastoma. Immunohistochemistry for glial fibrillary acidic protein, vimentin, epithelial membrane antigen, smooth muscle actin and cyclin D1 was performed. Polymerase chain reaction (PCR)-single-strand conformation polymorphism analysis with direct sequencing, differential PCR and microsatellite analysis were conducted for hSNF5/INI1mutation, homozygous deletion and loss of heterozygosity (LOH) on 22q, respectively. Because of the presence of rhabdoid cells and the polyimmunophenotypic features, the diagnosis was revised to AT/RT in five (31%) tumors, namely, two E IIIs and one each of medulloblastoma, CPC and pineoblastoma. Three of them harbored such hSNF5/INI1 aberrations as germline single base deletion (492/6 delC) and missense mutation (C157T) together with LOH 22q or homozygous deletion. Cyclin D1 was overexpressed in those three tumors but not in the two that lacked hSNF5/INI1 inactivation. CONCLUSION: AT/RT can be misdiagnosed as a variety of tumors, including ependymoma that potentially harbors LOH 22q. Our data indicate that cyclin D1 is a target of hSNF5/INI1in primary tumors.

[The clinical effect of combination therapy with edaravone and sodium ozagrel for acute cerebral infarction].

Sodium ozagrel (ozagrel), a selective thromboxane A2 synthetase inhibitor, has been used for the treatment of various types of acute ischemic stroke, except cardioembolic stroke. Recently, edaravone, a novel free radical scavenger, has been approved for the treatment of acute ischemic stroke within 24 hours after onset. Since these two drugs differ in mode of action, we hypothesized that combination of both drugs would yield further improvement of the outcome of patients with acute ischemic stroke. The clinical efficacy of combination therapy with edaravone and ozagrel for acute ischemic stroke was studied retrospectively, and compared with that of ozagrel alone. A total of 62 patients who suffered acute ischemic stroke within 24 hours after onset during the 10-month period from June 2001 to March 2002, were treated with both edaravone and ozagrel (E-O group), while 76 patients during August 2000 to May 2001, were treated with ozagrel alone (O group). The rate of modified Rankin Scale (MRS) 0 and 1 at discharge in the total ischemic stroke and atherothrombotic stroke, was significantly higher in the E-O group than in the O group. The improvement in MRS also differed between E-O group and O group in total. The difference was significant in patients with atherothrombotic stroke but not in those with lacunar stroke. These results indicate that combination therapy with edaravone and ozagrel is more effective than mono-therapy with ozagrel for the treatment of acute ischemic, especially of atherothrombotic stroke.

Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification.

The authors report a case of the rhabdoid predisposition syndrome (RPS) secondary to a germline hSNF5/INI1 mutation, whose brain tumor was originally unclassified but finally diagnosed as an atypical teratoid/rhabdoid tumor (AT/RT) by molecular analysis. A 7-month-old infant presented with hydrocephalus secondary to a huge pineal tumor and subsequently developed a renal rhabdoid tumor. The histology of the brain tumor was initially undetermined; however, an AT/RT was strongly suspected because of her clinical course. Mutational screening of the hSNF5/INI1 gene by heteroduplex and direct sequence analysis detected a missense mutation at codon 53 (CGA --> TGA, arginine --> stop) in both tumors, as well as in normal tissue of the kidney. Polymerase chain reaction (PCR)-based microsatellite analysis showed in both tumors allelic loss on chromosome arm 22q to which the hSNF5/INI1 gene maps. c-myc amplification was examined by differential PCR but not detected. Histologic review of the brain tumor by immunohistochemistry confirmed focal expression of epithelial membrane antigen and smooth muscle actin. These findings suggest that the brain tumor was really an AT/RT as a component of RPS secondary to a germline hSNF5/INI1 mutation. The present mutation has never been reported in the literature.