Diagnosing Corticobasal Syndrome Based on the Presence of Visual Hallucinations and Imaging with Amyloid Positron Emission Tomography.

A 61-year-old woman was admitted to our hospital due to memory difficulties, visual hallucinations, and slowly progressing motor difficulties in the limbs. A clinical examination revealed bradykinesia, gait disturbance, left-side-dominant rigidity, ideomotor apraxia, dressing apraxia, left-sided spatial agnosia, impaired visuospatial ability, and executive dysfunction. Her symptoms were unresponsive to levodopa, and corticobasal syndrome (CBS) was diagnosed. One year later, amyloid positron emission tomography revealed amyloid beta accumulation in the bilateral cerebral cortices; at this point, CBS with underlying Alzheimer's disease pathology (CBS-AD) was diagnosed. Visual hallucinations may help differentiate CBS with corticobasal degeneration (CBS-CBD) from other pathologies, including CBS-AD.

Sporadic adult-onset neuronal intranuclear inclusion disease with the main presentation of repeated cerebellar ataxia: a case study.

A 66-year-old woman suddenly experienced unsteadiness while walking; she had experienced the same symptom before, but it had resolved immediately. Her neurological findings showed cerebellar ataxia, absence of tendon reflex in the extremities, and orthostatic hypotension. MRI with DWI of the brain showed linear high-intensity areas at the white matter just below the cerebral cortex. Therefore, we suspected neuronal intranuclear inclusion disease (NIID). In her cutaneous skin biopsy, intranuclear inclusion bodies, which tested positive for an anti-ubiquitin antibody and anti-p62 antibody, were observed in sweat gland cells and fibroblasts; therefore, we diagnosed her with NIID. As no one in her family had similar symptoms, this was a case of sporadic NIID. Adult-onset NIID with the main presentation of cerebellar ataxia is rare; in our case, this repeated acute-onset symptom was a unique manifestation of the condition.

Cervical Posterior Spinal Artery Syndrome: A Case Report and Literature Review.

We report a case of left upper cervical posterior spinal artery (PSA) syndrome caused by atherosclerosis of the left vertebral artery. A 70-year-old female experienced sudden dizziness and paralysis of the left upper and lower limbs. Diffusion-weighted magnetic resonance imaging (DWI) of the brain showed high signal intensity at the vermis and lower left hemisphere of the cerebellum, and magnetic resonance angiography showed that the entire left vertebral artery was thin. The patient was treated with an intravenous infusion of tissue plasminogen activator 2 hours after symptom onset and made a full recovery. Repeat DWI, fluid-attenuated inversion recovery images, and T2-weighted images showed high signal intensity in the left upper cervical PSA area from the lower medulla oblongata to the C2 level in addition to the cerebellum. Previously reported cases of cervical posterior artery syndrome are reviewed.

[A case of posterior reversible encephalopathy syndrome associated with Takayasu's arteritis].

A 75-year-old woman presented with a 4-month history of repetitive loss of consciousness, dizziness, and ear fullness. Fluid attenuation inversion recovery magnetic resonance imaging showed high-intensity areas in the right occipital lobe, both frontal lobes, and parietal lobes, and the patient was therefore admitted to our department for further examination. Neurologic findings included a positive Barré sign (right upper extremity), impaired tandem gait, and positive left-sided Babinski reflex. The patient was diagnosed with Takayasu's arteritis owing to a difference in blood pressure between the left and right upper extremity, weakened pulse in the left upper extremity, as well as thickened arterial wall, and delayed enhancement on a contrast-enhanced computed tomography image. The head magnetic resonance imaging findings disappeared within 4 months and the patient was diagnosed with posterior reversible encephalopathy syndrome. Posterior reversible encephalopathy syndrome associated with elderly female Takayasu's arteritis is rare. ; the present case therefore offers valuable information.

[Anti-Hu antibody-positive paraneoplastic limbic encephalitis with acute motor sensory neuropathy resembling Guillain-Barré syndrome: a case study].

A 69-year-old man experienced general malaise, weight loss, amnesia, gait disturbance, and restlessness a month prior to admission. Brain MRI showed high intensity areas in the bilateral medial temporal lobes and insular cortices on FLAIR images, and therefore, he was diagnosed with limbic encephalitis. After admission, quadriplegia and respiratory failure progressed rapidly, and he needed ventilatory management. A nerve conduction study revealed low compound muscle action potential amplitude with loss of sensory nerve action potential, which indicated axonal sensorimotor neuropathy. We administered intravenous immunoglobulin and methylprednisolone pulse therapy, but he did not recover. Although no tumor was found on CT, his serum was positive for anti-Hu antibody; therefore, we diagnosed him with paraneoplastic neurological syndrome. An FDG-PET study showed accumulation at lesions on two hilar lymph nodes. Small cell lung carcinoma was detected by endobronchial ultrasound-guided transbronchial needle aspiration. Although paraneoplastic acute sensorimotor neuropathy with respiratory failure resembling Guillain-Barré syndrome is rare, identification of antibodies and servey of tumors aids accurate diagnosis.

Cerebral venous thrombosis as a complication of neuropsychiatric systemic lupus erythematosus.

A 51-year-old woman undergoing steroid treatment for systemic lupus erythematosus (SLE) was admitted to our hospital after developing a fever, consciousness disturbance and seizures, leading to a diagnosis of SLE-induced meningoencephalitis. Although steroid therapy improved her symptoms, she complained of post-lumbar puncture thunderclap headaches during follow-up, and cerebral venous thrombosis (CVT) was subsequently diagnosed on magnetic resonance venography and cerebral angiography. This is a rare case of neuropsychiatric SLE complicated by CVT during treatment for aseptic meningoencephalitis. The onset of aseptic meningoencephalitis and administration of the lumbar puncture and steroid therapy may have induced the development of the patient's CVT symptoms.

[Varicella zoster virus-induced meningoencephalitis complicated with orbital apex syndrome: a case report].

A 69-year-old male was admitted to hospital with clouded consciousness and abnormal behavior. His body temperature was 38.2 degree Celsius upon admission and he was somnolent. Herpes zoster was observed along the first division of the trigeminal nerve on the right side of the face. The right palpebra was severely swollen, and the right eye showed a dilated pupil, loss of light reflex, and total ophthalmoplegia. A spinal tap revealed pleocytosis and increased proteins, and a DNA-PCR test for varicella-zoster virus (VZV) was positive. Optic neuritis was diagnosed based on fundoscopy. Following acyclovir administration, the patient regained full consciousness and the rash was alleviated; however, visual acuity did not recover. VZV-induced meningoencephalitis complicated with orbital apex syndrome is rarely observed. We suspect that VZV initially infected the nasociliary nerve at the distal end of the first division of trigeminal nerve and spread to the adjacent optic, oculomotor, trochlear, and abducens nerves, resulting in VZV-induced meningoencephalitis complicated with orbital apex syndrome.

Venous congestive myelopathy of the cervical spinal cord: an autopsy case showing a rapidly progressive clinical course.

We report a rapidly progressive myelopathy in a 74-year-old Japanese man who was admitted to our hospital with a 4-month history of progressive gait disturbance and died of pneumonia followed by respiratory failure on the 22nd day of admission. During the course of his illness, magnetic resonance imaging (MRI) revealed intramedullary lesions with edematous swelling from the medulla oblongata to the spinal cord at the level of the fourth vertebra. After administration of contrast medium, the ventral portion of the lesion was mildly and irregularly enhanced and a dilated vessel was recognized along the ventral surface of the upper cervical cord. At autopsy, ischemic changes were observed in the upper-to-middle cervical cord segments, with so-called arterialized veins in the subarachnoid space. No neoplastic lesions were found within or outside the brain and spinal cord. These pathological findings were essentially those of venous congestive myelopathy (VCM) associated with dural arteriovenous fistulae (AVF), formerly known as Foix-Alajouanine syndrome. VCM associated with dural AVF, which is now considered to be treatable in the early stages, is rare found in the cervical spinal cord. The present autopsy case, with MRI findings, provides further information that might be useful for recognition and diagnosis.

Association between metallothionein genes polymorphisms and sporadic amyotrophic lateral sclerosis in a Japanese population.

Amyotrophic lateral sclerosis (ALS) is a progressive, lethal neurodegenerative disease that selectively affects motor neurons. Reactive oxygen species (ROS) are assumed to be involved in the pathogenesis of ALS. Metallothioneins (MTs) are self-protective, multifunctional proteins that scavenge ROS. In particular, metallothionein-III (MT-III) has a strong scavenging effect on hydroxyl radicals. MTs have been suggested to have important roles in the pathophysiology of ALS. Therefore we investigated single nucleotide polymorphisms (SNPs) of the MT-III and the metallothionein-IIA (MT-IIA) promoter region in 37 Japanese SALS cases and 206 sex-matched healthy controls using polymerase chain reaction (PCR)-direct sequencing or PCR-temporal temperature gradient gel electrophoresis (TTGE). We detected no SNPs of the MT-III gene in SALS cases and controls, and no detectable association between SALS phenotypes and a SNP of the MT-IIA promoter region. We conclude that gene polymorphisms of MT-IIA promoter region and MT-III gene are not associated with SALS phenotypes in a Japanese population.

[A case of non-herpetic acute encephalitis with autoantibodies for ionotropic glutamate receptor delta2 and epsilon2].

We report a 45-year-old woman admitted to our hospital due to fever, consciousness disturbance, and severe seizures. Based on her signs and symptoms and clinical course, a diagnosis of non-herpetic acute encephalitis was made. She received antibiotic drugs, acyclovir, gamma-globulin, and steroid pulse therapy (methylprednisolone 1 g/day, 3 days). The patient's signs, symptoms and severe seizure showed marked improvement, but she still showed monthly seizure attacks and both anterograde and retrograde amnesia Viral infection and autoimmune response after viral infection may have been involved in non-herpetic acute encephalitis in our patient. Recently, autoantibodies to GluRepsilon2 and VGKC were reported in cases of non-herpetic acute limbic encephalitis (NHALE). In our patient, we detected IgM type autoantibody to GluRdelta2 and epsilon2 in both the CSF and serum, and these antibodies normalized in the CSF with the clinical course. Autoantibodies to GluRdelta2 and epsilon2 may be involved in the clinical symptoms and pathogenesis of non herpetic acute limbic encephalitis. This is the first report of MRI-positive non-herpetic acute encephalitis with autoantibodies to GluRdelta2 and epsilon2.

[Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears].

Niemann-Pick disease, type C (NPC) is a neurometabolic genetic disorder that is distinguished from other types of Niemann-Pick disease by its later onset, more insidious progression, variable visceromegaly, and abnormalities of intracellular cholesterol metabolism. We report cases in 18-year-old and 20-year-old brothers who presented with disinhibition and involuntary movement of their hands. Both brothers presented various signs such as dementia, vertical supranuclear ophthalmoplegia (VSO), dysarthria, axial and limb dystonia, hyperreflexia, pathologic reflex, cerebellar ataxia, as reported. They also presented startle response. Brain MRI showed diffuse cerebral atrophy and abdominal CT reveals hepato-splenomegaly in both patients. These cases were suspected to be NPC based on dementia, VSO, cerebellar ataxia, hepato-splenomegaly and foam cells in the bone marrow. Generally, the diagnosis of NPC is based on deficient cholesterol esterification and excessive lysosomal filipin staining in cultured skin fibroblasts. However, culture of fibroblasts obtained from a biopsied skin samples is slow. We have rapidly made the diagnosis of NPC in our patients by filipin staining of foam cells from bone marrow. This diagnostic process using a bone marrow smear is more convenient and rapid than previous methods using cultured skin fibroblasts.