1/8. syringomyelia and complex regional pain syndrome as complications of multiple sclerosis.OBJECTIVE: To describe a patient from Southeast asia with the optic-spinal phenotype of multiple sclerosis who developed syringomyelia and resultant complex regional pain syndrome (formerly named reflex sympathetic dystrophy). DESIGN: Case report. SETTING: Department of neurology at a tertiary care hospital in the Republic of singapore. PATIENT: A 53-year-old Chinese woman with a history of optic neuritis developed an episode of left hemiparesis leading to a diagnosis of multiple sclerosis. Serial neuroimaging studies revealed an active demyelinating plaque in the cervical area that later progressed into a syrinx. Over a period of 1 year she also developed signs of sympathetic dysfunction including horner syndrome of the left eye and complex regional pain syndrome in the left hand. CONCLUSIONS: A case of the optic-spinal phenotype of multiple sclerosis that is commonly observed in Southeast asia is described. This characteristically tissue-destructive form of multiple sclerosis resulted in syringomyelia complicated by a complex regional pain syndrome. Possible pathogenic mechanisms for these associations are discussed.- - - - - - - - - - ranking = 1keywords = multiple sclerosis, sclerosis (Clic here for more details about this article) |
2/8. multiple sclerosis and non-communicating syringomyelia: a casual association or linked diseases?Non-communicating syringomyelia (NCS) can be associated with different disease processes such as arachnoidytis, trauma or tumor. Approximately 12 cases, documented radiographically, of the association of non-communicating syringomyelia and multiple sclerosis (MS) have been described but their relationship remains obscure. In 3 patients with laboratory supported MS spinal magnetic resonance imaging (MRI) revealed a central cystic cavity. In 2 patients lesions on the spinal cord above the cavity were demonstrated. At 3-year follow-up in 1 patient, no change in the cavity was detected. Although 3 cases are insufficient for providing a definitive conclusion on the relationship between these two diseases, we suggest that demyelinating lesions have to be regarded as possible causes of spinal, asymptomatic cavities.- - - - - - - - - - ranking = 0.17155555557506keywords = multiple sclerosis, sclerosis (Clic here for more details about this article) |
3/8. multiple sclerosis with secondary syringomyelia. An autopsy report.We report an elderly woman with multiple sclerosis who showed an extensive cavity formation in the midthoracic cord in addition to multiple abnormal intensity signals in the central nervous system on magnetic resonance imaging (MRI). The cavity decreased in size in response to corticosteroid therapy with an improvement in neurological symptoms. The autopsy demonstrated a slit-like cavity lined with no ependymal cells on the luminal surface in the lower cervical to midthoracic cord, with circumferentially distributed demyelinative lesions, leading to the pathological diagnosis of secondary syringomyelia. In this patient a limited necrosis formed in the spinal cord might have developed into a cavity formation with edematous fluid leading to subsequent episodes of neurological exacerbation.- - - - - - - - - - ranking = 0.17155555557506keywords = multiple sclerosis, sclerosis (Clic here for more details about this article) |
4/8. A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of tangier disease.tangier disease is a rare autosomal recessive disorder caused by mutations in the recently identified ATP-binding cassette transporter 1 gene (ABC1). A typical clinical manifestation of tangier disease is peripheral neuropathy. Former studies differentiated between two manifestations: the more frequent mono- or polyneuropathic form and a syringomyelia-like type. It is unknown whether specific mutations in the ABC1 gene or a particular genetic background are responsible for either of these forms. A family is presented comprising a case with a severe syringomyelia-like phenotype of tangier disease and absence of cardiovascular disease. Sequencing analysis of the ABC1 gene was performed. A new homozygous C-->T transition in exon 18 was found in the index patient. This mutation results in a stop codon at position 909 (R909X) leading to premature termination of translation. Her clinically asymptomatic daughters, her sister and one of her nieces were heterozygous. sural nerve biopsies were studied in the index patient at the age of 45 and 54 years; both revealed a severe neuropathy, characterized by a subtotal and finally complete loss of nerve fibres. The entire loss of schwann cells resulted in an extraordinary form of endoneurial sclerosis. Only rare capillaries, lipid-laden macrophages and fibroblasts had survived in the endoneurium. This case appears to be unique in respect to the underlying novel mutation in the ABC1 gene and its association with complete endoneurial sclerosis of all fascicles in the sural nerve and absence of cardiovascular disease.- - - - - - - - - - ranking = 0.02327777778753keywords = sclerosis (Clic here for more details about this article) |
5/8. tuberous sclerosis complex and hydrosyringomielia: Report of two cases.Two patients with typical tuberous sclerosis complex (TSC) associated with cervical or dorsal-lumbar hydrosyringomielia are described for the first time. Syringomielic cavities are small in extension in both cases, leading to significant clinical symptoms as bilateral pes cavus and scoliosis in one patient only. So far, tuberous sclerosis had not been reported to involve primarily the spinal cord, and other factors directly linked to syringomiely are not present in both these patients.- - - - - - - - - - ranking = 0.069833333362591keywords = sclerosis (Clic here for more details about this article) |
6/8. Noncommunicating syringomyelia in multiple sclerosis: detection by magnetic resonance imaging.We report 3 patients in whom multiple sclerosis appeared to be complicated by noncommunicating syringomyelia. Despite modest or minimal signs of myelopathy, each patient had cavitary spinal cord lesions detected with MRI. MS may be associated with noncommunicating syringomyelia.- - - - - - - - - - ranking = 0.625keywords = multiple sclerosis, sclerosis (Clic here for more details about this article) |
7/8. Keyhole aqueduct syndrome.Communicating syringes confined to the brain stem are extraordinarily rare. Two patients, presenting with signs and symptoms of cerebellar dysfunction, later developed evidence of brain-stem disease with dysarthria, nystagmus, deafness, and internuclear ophthalmoplegia. The condition of both patients had been diagnosed clinically as multiple sclerosis, but at autopsy they had a striking keyhole-shaped syrinx in the midbrain and upper pons, which communicated with the aqueduct and fourth ventricle without associated syringomyelia. In addition, both patients had marked atrophy and gliosis of the cerebellum, one with extension of the syrinx into cerebellar folia. The unique character of these lesions coupled with the similarity of the clinical features of the cases prompted us to name this disorder--"keyhole aqueduct syndrome."- - - - - - - - - - ranking = 0.125keywords = multiple sclerosis, sclerosis (Clic here for more details about this article) |
8/8. Radiographic type I autosomal dominant osteopetrosis with syringohydromyelia.A case of radiographic type I benign osteopetrosis with syringohydromyelia is presented. MRI revealed diffuse sclerosis of the bone marrow in the thick cranial bones and narrowing of the foramen magnum and subarachnoid spaces, especially in the posterior cranial fossa, and syringohydromyelia.- - - - - - - - - - ranking = 0.011638888893765keywords = sclerosis (Clic here for more details about this article) |