Cervical spondylosis, which can present as radiculopathy and myelopathy, is common in people over the age of 50. Since evidence of radiological spondylotic change is frequently found in many asymptomatic adults, it is necessary to assess whether neurological symptoms result from cervical spondylosis or other neurological disorders. In order to avoid misdiagnosis, it is important to compare the levels of the lesions shown on imaging with the clinical findings. Differential diagnosis between amyotrophic lateral sclerosis and cervical spondylotic myelopathy is an issue of major clinical importance. Though the course of disease development and the ultimate prognosis for patients with cervical spondylosis is highly variable and extremely difficult to predict, many patients experience a relatively benign form of the disease.
A 16-year-old male was admitted to our hospital because of fever, altered consciousness and subsequent tonic convulsions of upper and lower extremities. A head CT scan revealed evidence of diffuse brain edema. Novel influenza H1N1 viral RNA was detected in nasopharyngeal specimens by specific PCR examination. Oseltamivir, steroid pulse and intravenous immunoglobulin were administered without any effect. On day 3 after admission, the patient died of complications of DIC and multiple organ failure. Autopsy revealed neuropathological changes of the central nervous system, including congestion and marked edema of the brain. However, inflammatory cell infiltration in the meninges or brain parenchyma was not observed. Extensive disruption of astrocytic projections (clasmatodendrosis), which is indicative of acute encephalopathy, was detected by anti-glial fibrillary acidic protein (GFAP) immunostaining of brain tissue. This is the first autopsy case report of pandemic (H1N1) 2009 influenza virus-associated encephalopathy. The clinical course, laboratory profiles and pathological findings were similar to those of conventional seasonal influenza encephalopathy in children that are reported previously.
Lymphomatosis cerebri (LC) is a rare form of primary central nervous system lymphoma characterized by subacute progressive dementia and unsteady gait. MRI study of LC typically reveals diffuse leukoencephalopathy without contrast enhancement. The clinical presentation and MRI features of LC can resemble infectious, inflammatory, toxic or vascular leukoencephalopathy. Hence diagnosis of LC is easily mistaken for other, more common diseases. In this report, we present a case of a 55-year-old man presenting with subacute progressive dementia and ataxic gait. Brain MRI showed diffuse hyperintense lesions in the cerebral white matter of both hemispheres, left amygdala, brainstem and cerebellar peduncles on FLAIR image. No contrast-enhanced lesion was observed. Cerebrospinal fluid analysis showed elevated levels of soluble interleukin-2 receptor and β2-microglobulin. Based on MRI findings and 123I-IMP SPECT, stereotactic biopsy targeting white matter of the left medial temporal lobe was performed (day 0). On the day after the brain biopsy, corticosteroid therapy was initiated and improved the patient's cognitive function and gait disturbance. Pathological diagnosis of large B-cell lymphoma was obtained on day 9. High-dose intravenous methotrexate chemotherapy was started on day 14 and led to complete remission by day 52. This case highlighted the importance of brain biopsy for diagnosis of LC. This report raises a possibility that timely and proper treatment leads to a favorable outcome of LC that has been regarded as an intractable disease with poor prognosis.
We report a case of a 67 year-old man with bilateral sensory ataxia of the upper extremities. He was diagnosed as having ANCA-related angitis and Sjögren syndrome at age 60. On admission to our hospital at age 67, he presented with severe sensory ataxia in his upper extremities, while his lower extremity neurological symptoms were limited to the absence of tendon reflexes. Cervical MRI showed an increased T2 signal intensity in an area limited to the bilateral cuneate fasciculus. Serum levels of vitamin B12 and folic acid were normal. Plasma homocysteine, serum and urine methylmalonic acid were also normal. Eight-week intramuscular administration of vitamin B12 did not improve either his disorder or the MRI findings. His sensory ataxia might be attributed to Sjögren syndrome-associated ganglionopathy at the cervical level, and the MRI findings might reflect centripetal Wallerian degeneration in the cuneate fasciculus. Gracilis fasciculus are well-known as vulnerable regions in Sjögren-associated myelopathy, whereas cervical myelopathy, limited to cuneate fascicules, can emerge as Sjögren-associated disorders.
We report a 28-year-old male with dysferlinopathy, who has remained asymptomatic for 10 years from a rhabdomyolysis-like episode. He had been in good health since birth, but felt difficulty in walking after a month and a half of manual labor at 18 years old (at the year 2000). Rhabdomyolysis was suspected because of muscle weakness and elevated serum CK of 28,094U/L. He was hospitalized and his muscle weakness improved. He was referred to us, because his serum CK remained around 2,000U/L. Histological analysis of muscle, when anti-dysferlin antibody was unavailable, was not informative but later analysis at the age of 23 using preserved specimen showed loss of dysferlin immunoreactivity. Subsequently, a missense mutation (c.2997G>T) and a deletion (c.3373delG) of the dysferlin gene, both of which are common in Miyoshi myopathy in Japanese, were identified. He continuously showed hyper-CKemia, but no apparent muscle weakness emerged for more than ten years. Reports on asymptomatic dysferlinopathy over such a long duration are rare. This case may suggest that genetic factors, environmental factors such as intensity of work-load, or both, might affect the clinical course of dysferlinopathy. Further follow-up is necessary.
Hereditary hemorrhagic telangiectasia (HHT) is characterized by systemic vascular diseases mainly shown as arterio-visnous fistula (AVF). Here, we presented a 29-year-old woman with HHT complicated with migraine with aura (MWA) and vertigo. At the age of twelve years, she developed migraine with visual aura. At that time, migraine attacks were seen three times a year. At the age of 29 years, she also developed speech disturbance as migraine aura. At the ages of 20 and 29 years, she repeatedly suffered from positional vertigo attacks for a month. Physical examination revealed dilation of the capillary vessels at tongue, soft palate, and nasal mucosa and AVFs were located in the upper cervical cord, parietal lobe, and bilateral lungs. These clinical findings were consistent with the diagnostic criteria of HHT. Embolization of pulmonary AVF decreased the frequency of migraine attacks during 2-year follow-up after the embolization. The frequency of migraine in patients with HHT is higher than that of general population as well as the prevalence of vertigo. Therefore, MWA and vertigo presented in the patient with HHT suggests that there is a common pathological mechanism of dysfunction of endothelial cells and R-L shunt, among HHT, MWA, and vertigo.
We report a 33-year-old woman with myasthenia gravis (MG) who developed optic neuritis after the treatment of MG for 22 years. At 10 years of age, she was diagnosed with generalized MG (MGFA V) and at 11 years, she underwent thymectomy. She had been treated successfully only with anti-cholinesterase inhibitors for 22 years despite lasting high titer of anti-acetylcholine receptor antibody. She could manage everything in her life and had two children. At 33 years of age, she experienced acute visual loss in her left eye. Laboratory examination showed positive anti-acetylcholine receptor, antinuclear, anti-ssDNA, anti-dsDNA, anti-SS-A, and anti-aquaporin 4 (AQP4) antibodies. Brain MRI showed an enlarged left optic nerve with enhancement by gadolinium. Three courses of steroid pulse therapy did not show any effect on her visual acuity. However, plasma exchange therapy mildly ameliorated her visual acuity. Her MG symptoms were not exacerbated during the course of the optic neuritis. Furthermore blephalopstosis caused by MG has disappeared completely after the treatment with steroid pulse and plasma exchange. This case had 23 years of immunosuppressive treatment free durations with stable condition. The cause of development of optic neuritis would be her predisposed tendency other than thymectomy or treatment with immunosuppressive therapies.
We reported a 60 year-old man with Churg-Strauss syndrome (CSS). Three months later, he presented with dysarthria, dysphagia and severe headache. We detected glossopharyngeal and vagal nerve palsy, and made a diagnosis of cranial nerve involvement comorbid with CSS. Intravenous administration of methypredonisolone was effective for alleviating clinical signs and symptoms. Two months later, he complained of headache and facial numbness, but symptoms improved with an escalating dose of prednisolon. As compared to previously reported cases, our case was characteristic because of involvement of lower cranial nerve with CSS, which has been reported previously in only one case.