Limbic encephalitis associated with antibodies against the α-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic acid receptor: a case report.

We report a case of a 51-year-old man with limbic encephalitis (LE) associated with antibodies against the α-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic acid receptor (AMPAR). The patient presented with anterograde memory loss for 2 months. Cranial magnetic resonance and electroencephalogram were normal. AMPAR antibodies were found in blood serum and cerebrospinal fluid. All other test results were unremarkable. CT scans found a tumor in the right lobus superior pulmonis. A CT-guided needle biopsy was performed and pathological results showed small cell lung cancer (SCLC). The patient was diagnosed with LE associated with AMPAR antibodies and SCLC. Three months after immunotherapy and tumor removal, patient's memory was partially restored. We recommend that AMPAR antibodies should be detected in patients with classic LE with or without tumor. Prompt treatment of the tumor and immunotherapy are important.

Central nervous system involvement in primary Sjogren`s syndrome manifesting as multiple sclerosis.

Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old woman who was first diagnosed with multiple sclerosis in 2010, but who was subsequently diagnosed with primary Sjogren`s syndrome 2 years later after showing signs of atypical neurologic manifestations. Therefore, primary Sjogren`s syndrome should be suspected in patients who present with atypical clinical and radiologic neurologic manifestations.

Psychiatric symptoms and limb tremors associated with central pontine myelinolysis: A case of alcoholism without hyponatremia.

Central pontine myelinolysis (CPM), also known as osmotic demyelination syndrome, is a rare demyelinating disorder characterized by the loss of myelin in the center of the basis pontis. In this case report, an alcoholic patient with CPM and acquired demyelinating lesion of the basis pontis is described. The patient is a 70 year-old woman who presented with intermittent psychiatric symptoms and limb tremors following two months of alcohol abuse. During admission, magnetic resonance imaging (MRI) revealed hyperintensity on T2 weighted images and fluid-attenuated inversion-recovery imaging in the central pons without contrast enhancement. The patient's symptoms gradually improved following conservative treatment with vitamins B1 and B12. The one month follow-up MRI showed a significant reduction of the pontine injury.

Superficial siderosis of the central nervous system: A case report.

Superficial siderosis of the central nervous system (SSCNS) is a rare syndrome resulting from hemosiderin deposits in neuronal tissues close to the cerebrospinal fluid. SSCNS is characterized by sensorineural deafness, cerebellar ataxia and signs of pyramidal tract dysfunction. The present study describes a patient with SSCNS that did not suffer from hearing loss, which is the most common symptom of SSCNS. The patient was a 48-year-old male, presenting with dizziness, ataxia and slurred speech. The patient's ataxia was characterized by dizziness, nystagmus, dysarthria, abnormal finger-nose pointing and heel-knee-shin tests and a positive Chaddock sign. The patient had suffered from a pontine hemorrhage two years prior to the study. Audiometric tests showed normal hearing during the hospital stay and at the two-month follow-up examination. The diagnosis of SSCNS was made based on magnetic resonance images, which showed areas of linear hypointensity on the surface of the pons with mild cerebellar atrophy. However, a long-term follow-up is required to monitor the hearing of the patient. Improved understanding of SSCNS is important for clinicians to identify SSCNS patients who present without typical clinical symptoms.

A case of primary systemic necrotizing vasculitis presenting primarily with neurologic involvement.

Systemic necrotizing vasculitis (SNV) is a type of vasculitis that presents with necrosis, predominantly involving large, medium-sized and small arteries. Peripheral neuropathy is a major clinical feature of the primary and secondary systemic vasculitides, and is often observed during the early phases of the disease, causing axonal neuropathy. The prevalence of central nervous system (CNS) involvement ranges from 4% to 45%. Encephalopathy, focal neurological deficits, and seizures are the most common manifestations and usually occur late during the course of SNV. In this report, we describe a 61-year-old woman with SNV who had both CNS and peripheral nervous system vasculitic involvement. We also discuss the pathophysiology of nervous system involvement in patients with SNV.

Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family.

Familial amyloidotic polyneuropathy (FAP) is characterized by extracellular deposition of amyloid fibrils caused by a point mutation in the transthyretin (TTR) gene. TTR amyloidosis is linked to a vast number of mutations with varying phenotype and tissue distribution. Several Chinese kindred with FAP type 1 have been reported in Beijing, Hong Kong, Taiwan, and elsewhere. Here, histopathological features and TTR gene polymorphism were analyzed by using autopsy and blood specimens from a Chinese proband of a family with FAP. This proband is a 34-year old man with FAP type 1 who developed motor, sensory and autonomic impairments with neuropathy, gastrointestinal dysfunction, and orthostatic hypotension. Genetic findings of TTR revealed a T to C transition in codon 30 causing the mutation TTR Ala30. This patient died of respiratory and circulatory failure 7 years after onset. Autopsy showed heavy amyloid deposition in the peripheral nerves, liver, testes, thyroid, pancreas and muscles. There was moderate deposition in the heart, kidneys, bladder, gastrointestinal tract, tongue, lung, blood vessels, and gall bladder. The spleen showed only slight deposition, and none was observed in the central nervous system. TTR amyloidosis was confirmed by immunochemical staining with a specific TTR antibody. These results indicate that the distribution of amyloid deposition, (i.e., heavy in the liver, testes and slight in the spleen), is a characteristic feature and reflects the severity of FAP with TTR Val30Ala.