[Show abstract][Hide abstract] ABSTRACT: We report a case of adult-onset neuronal intranuclear inclusion disease (NIID) associated with recurrent cerebral infarct-like lesions. A 65-year-old man presented with slowly progressing cognitive impairment and parkinsonism. Brain magnetic resonance imaging revealed leukoencephalopathy with persistent high-intensity on diffusion-weighted imaging in areas including corticomedullary junctions. Nerve conduction studies showed sensorimotor polyneuropathy. Biopsies of skin, peripheral nerve, and skeletal muscle revealed eosinophilic hyaline intranuclear inclusions immunopositive for ubiquitin and p62 in various cells included in each specimen, which confirmed the diagnosis of NIID. The patient had repeated small lesions seemingly considered to be acute cerebral infarctions without obvious causes such as cardiovascular abnormalities or coagulation abnormalities. Infarct-like lesions recurred even after the antithrombotic therapy. Considering the lack of abnormal findings related to cerebral infarction risk, we suggest that NIID itself might show lesions mimicking cerebral infarctions in this case.This article is protected by copyright. All rights reserved.
[Show abstract][Hide abstract] ABSTRACT: AbstactA 75-year-old man was admitted for disturbance of consciousness. Three months earlier, he had been found to have cognitive dysfunction and gait disturbance. Magnetic resonance imaging (MRI) of the brain revealed disseminated hyperintense lesions in fluid attenuated inversion recovery and diffusion weighted images, which were enhanced with gadolinium (Figure 1 a-e). Laboratory results showed white blood cell count of 5200 /μL (neutrophils 55.1%, lymphocytes 33.6% and monocytes 8.2%), and CD4 T-cells of 943 /μL. Cerebral spinal fluid was normal.This article is protected by copyright. All rights reserved.
[Show abstract][Hide abstract] ABSTRACT: A 43-year-old man was admitted to our hospital because of diplopia, ptosis, and dysphagia that had begun three years previously. He was diagnosed with myasthenia gravis (MG) and invasive thymoma and treated with corticosteroid, thymectomy, and radiation therapy. Ten years after the thymectomy, computed tomography (CT) showed metastasis of the thymoma in the left lower lobe of the lung. Two years after this recurrence, when the patient was 55, respiratory symptoms such as wheezing, persistent cough, and dyspnea appeared. Chronic sinusitis, diffuse centrilobular opacities on CT, and positivity for HLA-B54 led to a diagnosis of diffuse panbronchiolitis (DPB). Despite treatment with clarithromycin, the respiratory symptoms worsened. The patient developed alopecia and body hair loss at the age of 56 followed by dysgeusia, cholangitis, and myositis with positivity for anti-Kv1.4 antibodies. Although treatment with an increased dose of corticosteroid improved hair loss, dysgeusia, cholangitis, and myositis, he died of progression of DPB and serious respiratory infection at the age of 58. In this case, various autoimmune disorders occurred together with MG as complications of thymoma. Although alopecia, dysgeusia, and myositis are already known as complications of MG associated with thymoma, cholangitis is not well-recognized since there have been few reports suggesting a causal relationship between cholangitis and thymoma. Furthermore, DPB caused by immunodeficiency and respiratory tract hypersensitivity associated with thymoma and HLA-B54, respectively, is the distinctive feature of our case. Neurologists should be aware that various organs can be damaged directly and indirectly by abnormal T cells from thymoma in patients with MG.
[Show abstract][Hide abstract] ABSTRACT: Infliximab, a tumor necrosis factor-alpha antagonist, is used to treat many inflammatory diseases. Various forms of demyelinating neuropathies have been reported as neurological complications associated with infliximab use. There have been few reports of pure sensory neuropathy associated with infliximab. We report the clinical, electrophysiological, and pathological findings of a patient with subacute sensory polyradiculopathy 1month after infliximab therapy for psoriasis vulgaris. Immune-mediated pathogenesis was suggested by positive anti-ganglioside antibodies and rapid response to intravenous immunoglobulin. This is the first reported case of sensory polyradiculopathy with positive anti-ganglioside antibodies following infliximab therapy. Our findings suggest the clinical importance of immunological investigations and treatment in demyelinating neuropathies following infliximab therapy.
[Show abstract][Hide abstract] ABSTRACT: This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery images. Central motor conduction time was prolonged both in the upper and the lower extremities, while central sensory conduction time was normal. The reduced lymphocyte galactocerebrosidase (GALC) activity and two novel mutations in the GALC gene, p.G496S and p.G569S, proved the diagnosis of Krabbe disease. Our findings show that adult-onset Krabbe disease is characterized by isolated pyramidal tract impairment in the central nervous system, both neurophysiologically and radiologically.
Brain & development 09/2012; 35(6). DOI:10.1016/j.braindev.2012.08.004 · 1.88 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: CASE REPORT: A 45-year-old man came to our hospital with a chief complaint of occipital pain followed by gait disturbance and developing hypohidrosis on the right side 6 days after the onset. Brain MRI revealed an acute infarction in the dorsolateral part of right medulla. Bladder catheter was inserted because of dysuria. 8 days after the onset, the bladder contraction and desire to urinate were normal, by cystometry. However, micturition was still impossible without a catheter. His dysuria was considered to be due to Detrusor-Sphincter Dyssynergia (DSD). 19 days after the onset, he was able to urinate without a catheter. We found only 5 reported cases of lateral medullary infarction with dysuria, all of which had abnormal bladder contraction. This is the first case report of lateral medullary infarction with dysuria in spite of normal bladder contraction.