Serial Magnetic Resonance Imaging and Magnetic Resonance Angiographic Findings of Reversible Cerebral Vasoconstriction Syndrome Associated with Postpartum.

We report 2 cases of reversible cerebral vasoconstriction syndrome (RCVS) associated with postpartum. In case 1, a 26-year-old woman developed sudden-onset headache, nausea, and vomiting 1 h after an uncomplicated vaginal delivery. In case 2, a 27-year-old woman developed generalized seizures 9 days after an uncomplicated vaginal delivery. In both cases, initial angiographic studies showed no significant vasoconstriction; however, repeat studies revealed reversible vasoconstriction. Serial magnetic resonance imaging (MRI) revealed transient brain lesions during 6 months. RCVS remains poorly characterized, misdiagnosed, and under-recognized. Serial MRI and magnetic resonance angiographic findings may contribute to diagnosis of RCVS.

A Case of Miller-Fisher Syndrome with Syndrome of Inappropriate Secretion of Antidiuretic Hormone.

We report a 72-year-old woman with Miller-Fisher syndrome (MFS) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH). She developed diplopia and unsteady gait a week after an upper respiratory infection. Neurologic examination revealed ophthalmoplegia, ataxia, symmetrical weakness, numbness, and areflexia. She underwent intravenous immunoglobulin therapy. Her serum sodium concentration decreased to 119 mEq/L on day 12. She had low plasma osmolarity (254 mosm/kg), high urine osmolarity (457 mosm/kg), and high urine sodium level (73 mEq/L), while the blood level of antidiuretic hormone was normal. Anti-GD1b immunoglobulin G (IgG), -GQ1b IgG, -GT1a IgG, and -Gal-C IgM antibodies were positive. We diagnosed her with MFS overlapping with SIADH. Four weeks after onset, her symptoms recovered. The elevation of anti-GD1b, -GQ1b, and -GT1a antibodies that recognize disialosyl residue may be pathologically related to SIADH.

Two Cases of Probable Neuro-Behçet's Disease with Longitudinally Extensive Transverse Myelitis.

We report 2 cases of probable neuro-Behçet's disease (NBD) with longitudinally extensive transverse myelitis (LETM). In both cases, the patients presented paraplegia, as well as sensory, bladder, and rectal disturbances. Magnetic resonance imaging (MRI) of patient 1 showed continuous high signal intensity extending from the midbrain to the entire spinal cord in the central part of the cord on T2-weighted imaging (T2WI). Spinal MRI of patient 2 revealed high signal intensity extending from Th2 to Th10 in the central part of the cord on T2WI. Both patients received high-dose methylprednisolone. A continuous lesion from the midbrain to the entire spinal cord as in patient 1 has not been previously reported. Patient 2 dramatically improved by infliximab therapy. The present cases suggest that NBD should be considered as a differential diagnosis in patients with LETM.

Two Cases of Very-Late-Onset Neuromyelitis Optica Spectrum Disorder (NMOSD) in Patients over the Age of 80.

We report two cases of very-late-onset neuromyelitis optica spectrum disorder (NMOSD) in patients over the age of 80 with transverse myelopathy as the initial manifestation. In both cases, the patients presented with paraplegia and sensory, bladder, and rectal disturbances. Thoracic magnetic resonance imaging showed longitudinal high-intensity signals on a T2-weighted image. The patients received high-dose methylprednisolone. Their serum was positive for anti-AQP4 antibody (cell-based assay) during the clinical course. They were diagnosed with NMOSD and treated with immunoadsorption, plasmapheresis, and followed up with daily prednisolone. Very-late-onset NMOSD in patients over the age of 80 has only rarely been reported. The present cases suggest that NMOSD should be considered for elderly patients presenting with transverse myelitis. Early diagnosis and treatment are important.

Campylobacter fetus Meningitis and Pyogenic Spondylodiscitis in a Healthy Young Woman.

We report a rare case of Campylobacter fetus meningitis and pyogenic spondylodiscitis in a healthy young woman. A 35-year-old woman without significant medical history presented with fever, headache, and low back pain. C. fetus was detected from the blood culture. Cerebrospinal fluid analysis showed bacterial meningitis 2 days after onset. Although initial magnetic resonance imaging (MRI) did not reveal abnormal findings, repeated MRI showed a low-signal-intensity lesion on T1-weighted image (T1WI) and a high-signal-intensity lesion on T2WI between the L5 and S1 vertebral bodies 11 days after onset. The mode of infection was considered to be the consumption of raw chicken meat. After antibiotic treatment with 12 g/day ampicillin following 6 g/day meropenem, she was discharged 51 days after onset. As the inflammatory signs on MRI improved, oral antibiotic therapy was discontinued 85 days after onset. Although the initial MRI showed no abnormal findings, repeat MRI should be performed for patients who have persistent low back pain and fever.

Combined Hypertrophic Pachymeningitis and Cerebral Venous Thrombosis in a Case of Granulomatosis with Polyangiitis.

We report a rare case of hypertrophic pachymeningitis (HP) and cerebral venous thrombosis associated with proteinase-3-antineutrophil cytoplasmic antibody (PR3-ANCA)-positive granulomatosis with polyangiitis (GPA). A 58-year-old male developed left headache after exudative otitis media. The laboratory data were positive for PR3-ANCA. Brain magnetic resonance imaging revealed bilateral paranasal sinusitis, left frontal lobe edema, and a thick dura mater with abnormal enhancement in the frontotemporal lobe. Magnetic resonance venography detected stenosis of the superior sagittal sinus. The patient was successfully treated with glucocorticoid, cyclophosphamide, and apixaban. Contrast neuroimaging should be performed for patients who present with unexplained headache, especially with middle ear and paranasal inflammation. These symptoms should be considered as GPA-related HP and cerebral venous thrombosis.

Meningitis due to a Combination of Streptococcus mitis and Neisseria subflava: A Case Report.

We report a rare case of meningitis due to a combination of Streptococcus mitis and Neisseria subflava. An 80-year-old female had a 4-year history of type II diabetes mellitus (DM) and an 11-year history of rheumatoid arthritis, which was treated with prednisolone, tacrolimus, and methotrexate. One month after the removal of a dental implant, she complained of a disturbance of consciousness and suffered a convulsion. A cerebrospinal fluid culture was found to be positive for both S. mitis and N. subflava. After 14 days of antibiotic treatment with 4 g/day ceftriaxone, her stiff neck, somnolence, and laboratory data greatly improved, and she was successfully discharged at 27 days after admission. Although both S. mitis and N. subflava are generally considered to be benign bacteria, they can cause meningitis in patients with the following risk factors: older age, on immunosuppressive treatment, DM, or dental treatment.

Autologous Bone Marrow Transplantation for Polymyositis Combined with Myasthenia Gravis and Aplastic Anemia: A Case Report.

This is the first report about a patient with concomitant polymyositis (PM), myasthenia gravis (MG), and aplastic anemia (AA). A 54-year-old male developed myalgia and muscle weakness, which gradually progressed over 2 months. He was persistently affected by MG and AA. Brachium magnetic resonance imaging showed increased signal intensity in the left triceps and deltoid muscles on short tau inversion recovery images. A muscle biopsy examination revealed perifascicular atrophication and inflammatory myopathy. We diagnosed the patient with PM combined with MG and AA. He was successfully treated with an autologous bone marrow transplantation (BMT). The present case suggests that BMT is a therapeutic option for PM, MG, and AA.

Neuromyelitis Optica Spectrum Disorder Coinciding with Spinocerebellar Ataxia Type 31.

We report the unusual case of a 63-year-old man with spinocerebellar ataxia (SCA) type 31 who developed neuromyelitis optica spectrum disorder (NMOSD) 14 years after the onset of cerebellar symptoms. In addition to cerebellar atrophy, magnetic resonance imaging showed multiple high-intensity areas in the brain and a long thoracic cord lesion from Th1/2 to Th11. The combination of NMOSD and SCA31 is accidental. However, our case suggests that inflammatory processes could be involved in the pathogenesis of NMOSD and SCA31.

Parkinsonism in Association with Dihydropteridine Reductase Deficiency.

We report a 16-year-old man with disorders of tetrahydrobiopterin metabolism due to dihydropteridine reductase (DHPR) deficiency. He revealed moderate mental retardation, parkinsonism, and spastic paralysis with levodopa and 5-hydroxytryptophan (5-HTP) supplementation from the age of 2 months. Brain MRI showed high intensity areas in bilateral frontal and posterior deep white matter on fluid-attenuated inversion recovery (FLAIR). Coronal FLAIR image showed a high signal in bilateral pyramidal tracts. Single photon computed tomography (SPECT) imaging of the dopamine transporter was normal. This imaging indicates no dopaminergic cell loss. Our patient had no motor fluctuations or dyskinesias. Early diagnosis and replacement treatment might lead to a favorable outcome.

Estimation of the Presence of Small Dense Lipoprotein Cholesterol in Acute Ischemic Stroke.

Small dense low-density lipoprotein (sdLDL) is an established risk factor in ischemic heart disease. However, its clinical significance in acute ischemic stroke (AIS) is uncertain. This study evaluates the prognostic value of the presence of sdLDL in patients with AIS by determining whether it contributes to clinical outcome or not. We studied 530 consecutive patients admitted within the first 48 hours after onset of ischemic stroke and 50 corresponding controls. Serum lipid parameters were measured on admission by standard laboratory methods. The percentage of AIS patients with sdLDL was significantly higher than the one of matched controls with sdLDL. Concerning comparisons between AIS patients with or without sdLDL, the percentages of males and patients with histories of smoking, hypertension, and cardiovascular disease were significantly higher in AIS patients with sdLDL. Concerning the grade of severity, modified Rankin Scale (mRS) on discharge was significantly higher in AIS patients with sdLDL. On logistic regression analysis, age (OR=2.29, P<0.001), male gender (OR=0.49, P<0.01), history of atrial fibrillation (OR=3.46, P<0.001), and the presence of sdLDL (OR=1.59, P<0.05) were significantly associated with poor prognosis (mRS on discharge >3). Our study showed that the presence of sdLDL might be independently associated with a poor prognosis after AIS.

Combined ipsilateral oculomotor nerve palsy and contralateral downbeat nystagmus in a case of cerebral infarction.

We report a patient with acute cerebral infarction of the left paramedian thalamus, upper mesencephalon and cerebellum who exhibited ipsilateral oculomotor nerve palsy and contralateral downbeat nystagmus. The site of the infarction was considered to be the paramedian thalamopeduncular and cerebellar regions, which are supplied by the superior cerebellar artery containing direct perforating branches or both the superior cerebellar artery and the superior mesencephalic and posterior thalamosubthalamic arteries. Contralateral and monocular downbeat nystagmus is very rare. Our case suggests that the present downbeat nystagmus was due to dysfunction of cerebellar-modulated crossed oculovestibular fibers of the superior cerebellar peduncle or bilateral downbeat nystagmus with one-sided oculomotor nerve palsy.

A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathology.

We herein report a novel compound heterozygous mutation of the acid α-glucosidase (GAA) gene in a 23-year-old man with adult-onset Pompe disease. The patient was admitted for respiratory failure and a highly elevated serum level of creatine kinase (CK). His muscle pathology did not show typical vacuolated fibers; however, globular inclusion bodies with acid phosphatase (ACP) activity was observed. A molecular genetic analysis of the GAA gene revealed a novel compound heterozygous mutation, c.1544 T>A (M515K), combined with a previously reported mutation, c.1309 C>T (R437C). The presence of ACP-positive globular inclusion bodies is a useful diagnostic marker for adult-onset Pompe disease, even when typical vacuolated fibers are absent.

Intravenous thrombolysis with neuroprotective therapy by edaravone for ischemic stroke patients older than 80 years of age.

BACKGROUND: Alteplase, a recombinant tissue plasminogen activator (tPA), was approved for patients with acute ischemic stroke within 3 hours of stroke onset in Japan in October 2005 at a dose of 0.6 mg/kg. The aim of this study was to assess the safety and efficacy of alteplase in elderly patients in Japan. METHODS: One hundred twenty-nine consecutive patients who were admitted to our 5 hospital groups and who received intravenous tPA within 3 hours of stroke onset between January 2010 and December 2011 were divided into 2 groups by age (<80 years of age [younger group] and >80 years of age [older group]) and by treatment with or without edaravone. Clinical backgrounds and outcomes were investigated. RESULTS: The National Institutes of Health Stroke Scale score on admission was not different in both groups, but the National Institutes of Health Stroke Scale scores 7 days after stroke onset were significantly higher in the older group (score 8; P < .05) than in the younger group (score 4), and the ratio of patients with a modified Rankin Scale score of 4 to 6 was significantly greater in the older group (41.7%; P < .05) than in the younger group (22.2%). However, there was no difference in asymptomatic and symptomatic intracerebral hemorrhage rates between the younger and older groups (asymptomatic 20.2% v 18.8%; symptomatic 2.6% v 2.1%). Patients with edaravone showed a higher recanalization rate (61.9%; P < .01) and a better modified Rankin Scale score at 3 months poststroke (P < .01) than the nonedaravone group. CONCLUSIONS: These data suggest that intravenous alteplase (0.6 mg/kg) within 3 hours of stroke onset was safe and effective, even for very old patients (≥ 80 years of age), but resulted in poor outcomes relating not to tPA but to aging. In addition, edaravone may be a good partner for combination therapy with tPA to enhance recanalization and reduce hemorrhagic transformation.

Intravenous tissue plasminogen activator therapy for an acute ischemic stroke patient with later diagnosed unilateral moyamoya syndrome.

We report the use of intravenous tissue plasminogen activator (t-PA) therapy in a 38-year-old patient who was later diagnosed with unilateral moyamoya syndrome. The patient had a sudden onset of unconsciousness, vomiting, dysarthria, and tetraparesis. A neurologic examination revealed consciousness disturbance, right central facial nerve palsy, dysarthria, and tetraparesis with bilateral exotropia and horizontal gaze palsy. A magnetic resonance imaging scan on admission did not reveal fresh cerebral infarction or hemorrhage, but magnetic resonance angiography revealed severe stenosis at the terminal portion of left internal carotid artery, the anterior cerebral arteries, and the right vertebral artery. We suspected infarction of brain stem. The patient was treated with intravenous t-PA approximately 2.5 hours after onset, and the patient demonstrated a remarkable recovery 1 day after onset and had only a minimal deficit at discharge (12 days after onset). Cerebral angiography 7 days after onset confirmed the diagnosis of moyamoya disease. The present case suggests that therapeutic intravenous t-PA may be applicable for an acute ischemic stroke patient coexisting with moyamoya disease after careful evaluation and discussion with patient and family.

Tissue plasminogen activator thrombolytic therapy for acute ischemic stroke in 4 hospital groups in Japan.

In October 2005 in Japan, the recombinant tissue plasminogen activator (tPA) alteplase was approved for patients with acute ischemic stroke within 3 hours of onset at a dose of 0.6 mg/kg. The present study was undertaken to assess the safety and efficacy of alteplase in Japan. Between October 2005 and December 2009, a total of 114 consecutive patients admitted to 4 hospitals received intravenous tPA within 3 hours of stroke onset. Clinical backgrounds and outcomes were investigated. The patients were divided into 2 chronological groups: an early group, comprising 45 patients treated between October 2005 and December 2007, and a later group, comprising 69 patients treated between January 2008 and December 2009. The mean time from arrival at the hospital to the initiation of treatment was significantly reduced in the later group, from 82.6 minutes to 70.9 minutes. Intracerebral hemorrhage (ICH) occurred in 26 patients (22.8%); compared with patients without ICH, these patients had a significantly higher prevalence of cardiogenic embolism (88.5% vs 58.0%); greater warfarin use (26.8% vs 6.8%); higher mean National Institutes of Health Stroke Scale (NIHSS) scores on admission (16 vs 10), at 3 days after admission (14 vs 5), and at 7 days after admission (13.5 vs 3); and a lower Diffusion-Weighted Imaging-Alberta Stroke Program Early CT Score (7.8 vs 9.1). Patients who received edaravone had a higher prevalence of cardiogenic embolism (70.9% vs 36.4%), a higher recanalization rate (77.7% vs 36.4%), and lower NIHSS scores on admission and at 3 and 7 days after admission compared with those who did not receive edaravone. Our data suggest that administration of intravenous alteplase 0.6 mg/kg within 3 hours of stroke onset is safe and effective, that the NIHSS and Diffusion-Weighted Imaging-Alberta Stroke Program Early CT Score are useful predictors of ICH after tPA administration, and that warfarin-treated patients are more likely to develop symptomatic ICH despite an International Normalized Ratio <1.7.

Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.

We report novel compound heterozygous mutations of the UDP-N-acetylglucosamine-2-epimerase and N-acetylmannosamine kinase (GNE) gene, c.302G>A (p.R101H) and c.617-4A>G, in a Japanese family with distal myopathy with rimmed vacuoles (DMRV) presenting with slow progression. The three patients could stand and walk even 36, 34, and 39 years after onset, respectively, although affected individuals become wheelchair bound on average 12 years after onset of the disease. The clinical spectrum of DMRV seems to be wider than previously thought in terms of both the clinical course and the severity of the disease.

Two cases of possible neuro-Sweet disease with meningoencephalitis as the initial manifestation.

We report 2 cases that were considered to be neuro-Sweet disease. They initially manifested with meningoencephalitis and no skin lesions, and rapidly improved with corticosteroid therapy. In both cases, patients complained of meningitic symptoms such as fever and headache, and HLA-B54 and -Cw1 turned out to be positive over the clinical course. Cerebrospinal fluid analysis showed increased levels of lymphocytes and protein. In case #1, fluid-attenuated inversion recovery (FLAIR), magnetic resonance imaging (MRI) and diffusion-weighted images (DWI) showed high-intensity signals in the right dorsal medulla oblongata, bilateral dorsal midbrain, and left thalamus. In case #2, FLAIR and DWI showed high-intensity signals in the bilateral cerebellar cortex and left caudate nucleus. Symptoms and MRI images were markedly improved in both cases after corticosteroid pulse therapy. According to published diagnostic criteria, these 2 cases were considered possible neuro-Sweet disease. These cases suggest that the combination of meningoencephalitis and HLA specificity is important to consider the possibility of neuro-Sweet disease, even without skin lesions.

Scheie syndrome diagnosed after cerebral infarction.

We report a 41-year-old woman with Scheie syndrome diagnosed after cerebral infarction. She presented with acute onset dysarthria and right upper limb weakness. The neurologic findings revealed dysarthria, right central facial paralysis, mild right hemiparesis, and mild sensory impairment in the right arm and leg. Diffusion-weighted magnetic resonance imaging (MRI) showed subtle high signal lesions in the left corona radiata and posterior limb of the internal capsule. The diagnosis was made by a coarse facial appearance, claw hands, pigmentary degeneration of the bilateral retinas, and a deficiency of the enzymatic activity of lysosomal α-L-iduronidase. The patient was successfully treated with intravenous recombinant tissue plasminogen activator (rtPA) followed by enzyme replacement therapy. The prognosis of this disease would improve with enzyme replacement therapy. It is necessary to be aware of cerebral infarction in patients with Scheie syndrome.