Gadolinium-enhanced MR improved motion sensitized driven equilibrium (iMSDE) for intracranial vessel imaging in giant cell arteritis.

BACKGROUND: Giant cell arteritis (GCA) generally affects extracranial large and medium-sized vessels. It rarely causes intracranial vessel stenosis, presenting as cerebral infarction (CI). Consequently, accurate diagnosis of CI induced by GCA is often challenging. Improved motion-sensitized driven-equilibrium (iMSDE) is one of the advanced high-resolution magnetic resonance (MR) vessel wall imaging techniques that enables direct visualization of the vessel wall because of a strong reduction in blood flow artifacts, leading to higher quality images. Herein, we effectively used gadolinium-enhanced MR iMSDE imaging to diagnose a patient presenting with recurrent CI due to right intracranial internal carotid artery (ICA) stenosis as GCA. CASE DESCRIPTION: A 64-year-old man with polymyalgia rheumatica for several years and who had experienced CI due to moderate intracranial ICA stenosis one year ago, presented to the emergency room with dysarthria and left hemiparesis. Diffusion-weighted MR imaging showed high signals in the right centrum ovale, and MR angiography revealed severe stenosis of the right intracranial ICA. Gadolinium-enhanced MR iMSDE imaging showed marked concentric enhancement in the vessel wall of the right stenosed ICA, which led to a definitive diagnosis of GCA via biopsy from the right superficial temporal artery. The patient's symptoms gradually improved after initiation of steroid treatment. Three months later, gadolinium-enhanced MR iMSDE imaging revealed improvement in the contrast enhancement in the vessel wall and vascular stenosis. CONCLUSION: Gadolinium-enhanced MR iMSDE imaging is useful to diagnose and evaluate GCA with intracranial vessel involvement.

Characterization of Moyamoya and Middle Cerebral Artery Diseases by Carotid Canal Diameter and RNF213 p.R4810K Genotype.

OBJECTIVES: It is sometimes difficult to differentiate middle cerebral artery disease from moyamoya disease because the two can present similarly yet have different treatment strategies. We investigated whether the presence of a narrow carotid canal and the RNF213 mutation can help differentiate between the two phenotypes. POPULATION AND METHODS: We analyzed 78 patients with moyamoya disease, 27 patients with middle cerebral artery disease, and 79 controls from 2 facilities. The carotid canal diameter was measured using computed tomography. The p.R4810K mutation was genotyped by TaqMan assay. A receiver operating characteristics analysis was performed to assess the significance of the carotid canal diameter for the accurate diagnosis of moyamoya disease. RESULTS: The carotid canal diameter was significantly narrower in patients with moyamoya disease than in controls. The optimal cutoff values were 5.0 mm for adult males and 4.5 mm for adult females and children (sensitivity: 0.82; specificity: 0.92). Among the patients with middle cerebral artery disease, 18.5% and 25.0% of the affected hemispheres had the p.R4810K mutation and narrow canal (i.e., below the cutoff), respectively, whereas only 3.1% of those had both. Contrastingly, 68.8% of the affected hemispheres in patients with moyamoya disease had both these characteristics. Among the patients with moyamoya disease, those with the p.R4810K mutation tended to have narrower carotid canals. CONCLUSIONS: Although the presence of a narrow carotid canal or the p.R4810K mutation alone could not be used to distinguish those with moyamoya disease from those with middle cerebral artery disease, the combination of these factors could better characterize the two phenotypes.

The use of 5-aminolevulinic acid to assist gross total resection of pediatric astroblastoma.

PURPOSE: Astroblastoma is an uncommon pediatric neuroepithelial tumor. The prognosis and appropriate treatment of astroblastoma were not well understood. Previous reports suggested the best treatment for astroblastoma is surgical total resection. The authors report a case of pediatric astroblastoma that underwent gross total resection with the use of fluorescent guidance by 5-aminolevulinic acid (5-ALA). CASE REPORT: A 13-year-old girl presented with the tumor that was well-circumscribed cystic and solid mass with marked gadolinium enhancement in the right occipital lobe. At surgery, fluorescence of the tumor was clearly distinctive from the normal cerebral tissue. All fluorescent tissue including residual cyst wall was removed. Postoperative MRI showed gross total resection of the tumor. No serious side effect or complications occurred. The histopathologic diagnosis was suggestive of astroblastoma. The patients had no evidence of recurrence of tumor without adjuvant radiotherapy during the last 1 year of follow-up time. CONCLUSION: 5-ALA is useful to achieve gross total resection including cystic lesion of pediatric astroblastoma. A larger prospective study is warranted to establish the use of 5-ALA in pediatric brain tumor.

Bilateral Chronic Subdural Hematoma is Associated with Rapid Progression and Poor Clinical Outcome.

Chronic subdural hematoma (CSDH) has been recognized as a benign disease, but its clinical outcome is not well documented. This study aims to expand the knowledge base regarding the outcome of CSDH. We retrospectively reviewed clinical characteristics of CSDH operated in the Kobe City Medical Center General Hospital between June 2005 and June 2012. Variants included age at onset, sex, laterality, presence of headache, consciousness level, and risk factors for hemorrhage such as malignancy or intake of anticoagulants. A total of 368 cases were analyzed. Six patients (1.4%) had a poor outcome, defined as any morbidity or mortality at 7 days postoperatively. Bilateral hematoma was significantly associated with a poor outcome (p = 0.041). Warfarin use and malignancy, albeit statistically not significant, were more frequently observed in patients with a poor outcome. Bilateral CSDH was observed in 53 patients (14.4%). Age at onset, sex, history of malignancy, anticoagulant use, and antiplatelet use did not differ between bilateral and unilateral CSDH. Recurrence rate was not different between bilateral and unilateral CSDH (14.2% vs. 11.3%), but poor outcome as a result of brain herniation was significantly higher in bilateral than in unilateral hematomas (5.7% vs. 0.3%, p = 0.01). Bilateral CSDH was associated with rapid progression and showed worse outcome as a result of brain herniation in comparison with unilateral CSDH. Urgent trephination surgery for decompression of hematoma pressure may be recommended for bilateral CSDH.

Familial schwannomatosis with a germline mutation of SMARCB1 in Japan.

Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically. He had a family history of multiple schwannomas for his father and sister. Systemic examinations of these family members ruled out a diagnosis of NF1 or NF2, and thus schwannomatosis was suspected. Genetic analysis revealed a germline mutation (c. *82C > T) of SMARCB1, and a somatic mutation of NF2 without loss of heterozygosity at the chromosome 22 locus. This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country.

[Cryptococcus Neoformans Var. Gattii meningoencephalitis with cryptococcoma in an immunocompetent patient successfully treated by surgical resection].

Cryptococcosis is a fungal infection, which mainly invades the lungs and central nervous system. In Japan, most cases of cryptococcosis are caused by Cryptococcus neoformans(C. neoformans). Until now, only three cases which the infectious agent was Cryptococcus neoformans var. gattii(C. gattii)have been reported. As compared with cryptococcosis caused by C. neoformans, which is often observed in immunocompromised hosts, cryptococcosis caused by C. gattii occurs predominantly in immunocompetent hosts and is resistant to antifungal drugs. Here, we report a case of refractory cerebral cryptococcoma that was successfully treated by surgical resection of the lesions. A 33-year-old man with no medical history complained of headache, hearing disturbance, and irritability. Pulmonary CT showed a nodular lesion in the left lung. Cerebrospinal fluid examination with Indian ink indicated cryptococcal meningitis, and PCR confirmed infection with C. gattii. C. gattii is usually seen in the tropics and subtropics. Since this patient imported trees and soils from abroad to feed stag beetles, parasite or fungal infection was, as such, suspected. Although he received 2 years of intravenous and intraventricular antifungal treatment, brain cryptococcomas were formed and gradually increased. Because of the refractory clinical course, the patient underwent surgical resection of the cerebral lesions. With continuation of antifungal drugs for 6 months after the surgeries, Cryptococcus could not be cultured from cerebrospinal fluid, and no lesions were seen on MR images. If cerebral cryptococcosis responds poorly to antifungal agents, surgical treatment of the cerebral lesion should be considered.