Corticobasal degeneration with deep white matter lesion diagnosed by brain biopsy.

Corticobasal degeneration (CBD) is a rare progressive neurodegenerative disorder characterized by asymmetric presentation of cerebral cortex signs, cortical sensory disturbance and extrapyramidal signs. Herein, we report a case of a 66-year-old Japanese woman who presented with apraxia of the right hand. She subsequently developed postural instability and cognitive impairments that rapidly worsened. One and a half years later, the patient was wheelchair-bound and severely demented. Brain magnetic resonance imaging revealed left dominant atrophy of the frontoparietal lobe. There was a hyperintense lesion in the deep white matter expanding toward the subcortical area on fluid-attenuated inversion recovery (FLAIR) images. In order to rule out the possibility of an intracranial tumor such as an astrocytoma or malignant lymphoma, we performed a brain biopsy of the left frontal middle gyrus. The patient became bedridden and showed akinetic mutism 1 year after biopsy. Pathological examination revealed a large amount of 4-repeat tau-immunoreactive neuropil threads scattered predominantly in the corticomedullary junction and tau-immunoreactive structures, consistent with CBD. Immunostaining for p53 showed no positive cells, and there were very few Ki-67-positive cells. On immunoblots of sarkosyl-insoluble brain extracts, a major doublet of 64 and 68 kDa full-length tau with two closely related fragments of approximately 37 kDa were detected. Based on these results, the patient was pathologically diagnosed as having CBD, excluding the possibility of tumor. Taken together with previous similar case reports, our findings indicate that a deep white matter hyperintense lesion on FLAIR images may be a useful clue to CBD, predicting rapid clinical progression with severe dementia based on severe white matter degeneration with a large amount of tau accumulation on pathological examination.

Two Cases of Severe Type 2 Respiratory Failure Associated with Diffuse Idiopathic Skeletal Hyperostosis.

Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory process characterized by hyperostosis at tendon insertions and around joint capsules and ossification of the anterior longitudinal ligament of the spine. The flexibility of the spinal column is reduced in DISH and affects the movement of the thorax, leading to restrictive ventilatory function. In this report, we describe the first two cases of severe type 2 (hypercapnic) respiratory failure associated with DISH. Two older men presented with histories of shortness of breath. Radiography of the spine revealed DISH with coexisting ankylosis of the costovertebral joints. The patients' thoracic motion was severely restricted, reducing the mechanism of lung expansion to diaphragm contraction only. Both patients required non-invasive positive-pressure ventilation therapy to cope with their conditions. Our report sheds light on the risk of potentially life-threatening respiratory manifestations of DISH among older adults.

Spontaneous Intracranial Hypotension with a Reversible Splenial Lesion after Swimming.

Spontaneous intracranial hypotension (SIH) is an important cause of headache mainly associated with spinal cerebrospinal fluid leakage. We herein report the case of a 51-year-old man who developed SIH after swimming. Brain magnetic resonance imaging (MRI) showed a transient high-intensity lesion in the splenium of the corpus callosum (SCC), in addition to bilateral subdural hematomas (SDH) and pseudo-subarachnoid hemorrhage on brain computed tomography. The splenial lesion disappeared and SDH improved after an epidural blood patch. This case emphasizes that transient SCC lesions could coexist with SIH and that SIH should be considered in the differential diagnosis of SCC lesions.

A central nervous system metastasis of melanoma with stroke-like onset of left-lower quadrantanopsia.

"Stroke mimics" mean diseases presenting with acute neurological impairments that are taken for stroke. Discriminating them is crucial to avoid improper treatment or delayed correct treatment. We describe a 48-year-old woman presenting with a sudden onset of scintillating scotoma and left-lower quadrantanopsia. Hyperacute cerebral infarction was suspected. However, brain magnetic resonance imaging (MRI) revealed a mass at the cortico-medullary junction in the right occipital lobe. We diagnosed her as metastatic melanoma. We suspected that neurological deficits can be attributed to seizure, and therefore introduced levetiracetam. She showed neurological improvement immediately. Our case demonstrated the importance of considering brain tumor as a differential diagnosis in patients presenting with acute-onset neurological deficits. In addition to appropriate treatment of tumor, the use of newer antiepileptic drugs resulted in good neurological prognosis in metastatic brain tumors.

Tumefactive multiple sclerosis which initially presented with brainstem encephalitis with a long-term follow-up.

Tumefactive demyelinating lesions (TDLs) are rare in multiple sclerosis (MS). We herein report a case of tumefactive MS which initially presented with brainstem encephalitis with a long-term follow-up. The patient had experienced relapse mostly in the brainstem in the first twenty years, and then in the periventricular white matter afterwards. The patient responded well to steroid treatment recovered without sequalae. However, immunodeficiency due to the long-term use of oral prednisolone made aggressive therapy during the relapse impossible, so recovery after steroid therapy is incomplete. Our case is different from classical MS in clinical course and response to treatment. Our report offers rare information on long-term outcome of tumefactive MS.

Severe pleuritis and pericarditis associated with very-late-onset systemic lupus erythematosus.

Systemic lupus erythematosus (SLE) is a multisystem disorder, which occurs mostly in young women. However, late-onset SLE does exist and sometimes presents with an atypical, diversified course. We describe an 85-year-old woman who was admitted to our hospital for lower extremity edema and hand grip weakness. Chest computed tomography scan 4 days after admission demonstrated rapid accumulation of pleural and pericardial effusions, which did not exist on admission. She was diagnosed with pleuritis and pericarditis associated with very-late-onset SLE. Methylprednisolone pulse therapy resulted in a drastic improvement in serositis. Our case exemplifies the fact that patients with late-onset SLE sometimes follow an atypical course, which makes the clinical diagnosis difficult.

Paraspinal muscle involvement in herpes zoster-induced abdominal wall pseudohernia revealed by electrophysiological and radiological studies.

Segmental zoster paresis is an uncommon complication of herpes zoster, and abdominal wall pseudohernia is rare. Previous reports have emphasized the involvement of anterior rami of spinal nerves, while the involvement of posterior rami has been less frequently reported. We aimed to elucidate the involvement of posterior rami of spinal nerves in abdominal wall pseudohernia. Four patients with a diagnosis of abdominal wall pseudohernia underwent needle electromyography (nEMG) and magnetic resonance imaging (MRI). In three patients, nEMG of affected paraspinal muscles showed denervation potentials, and MRI showed hyperintensity of these muscles on short T1 inversion recovery imaging. These results suggested involvement of paraspinal muscles, and indicated that posterior rami of spinal nerves are also often affected in abdominal wall pseudohernia. MRI as well as nEMG could be useful for evaluating paraspinal muscle involvement and for the diagnosis.

Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH.

Minifascicular neuropathy (MN) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46XY gonadal dysgenesis (GD) was found to carry a mutation affecting the start codon in desert hedgehog (DHH). We identified an identical novel rearrangement mutation of DHH in two consanguineous families with MN, confirming mutations in DHH cause MN with 46XY GD. The patients with the 46XY karyotype developed GD, whereas a patient with the 46XX karyotype did not. These findings further support that DHH has important roles in perineural formation and male gonadal differentiation.

Syndrome of Inappropriate Antidiuretic Hormone Associated with Eosinophilic Granulomatosis with Polyangiitis.

A 78-year-old woman with a history of bronchial asthma presented with distal dominant sensory disturbance and weakness in the upper and lower extremities. A biopsy of the left peroneus brevis muscle showed active vasculitis with inflammation extending into muscle fascicles and fibrinoid necrosis of the vessel wall, consistent with eosinophilic granulomatosis with polyangiitis (EGPA). Despite her decreased serum osmolarity, her serum antidiuretic hormone level was not reduced, consistent with the syndrome of inappropriate antidiuretic hormone (SIADH). Intravenous and oral steroid therapy improved her neurological symptoms. Clinicians should consider EGPA as a concurrent, and potentially causative, disorder in cases of SIADH.

Hypertrophic Pachymeningitis as a Potential Cause of Headache Associated with Temporal Arteritis.

We herein describe a rare case of temporal arteritis associated with hypertrophic pachymeningitis. An 81-year-old man presented with a right temporal headache that had persisted for one month. A right superficial temporal artery biopsy revealed intimal hypertrophy with increased elastic fibers, consistent with temporal arteritis. Brain MRI using gadolinium enhancement showed thickened dura mater on the right frontal and temporal lobes, which led to the diagnosis of hypertrophic pachymeningitis. Intravenous methylprednisolone and oral prednisolone improved the patient's symptoms. According to our findings, hypertrophic pachymeningitis may be a potential cause of an ipsilateral temporal headache associated with temporal arteritis.

[A case of myasthenia gravis with invasive thymoma associated with diffuse panbronchiolitis, alopecia, dysgeusia, cholangitis and myositis].

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.

Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene.

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.

Successful treatment of infliximab-associated immune-mediated sensory polyradiculopathy with intravenous immunoglobulin.

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 1 month 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.

[A case of lateral medullary syndrome with neurogenic bladder].

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.