1/133. Cervical cord tethering mimicking focal muscular atrophy.spinal cord tethering rarely occurs in the cervical region. In adults, it usually results from previous operations. However, congenital origin is always diagnosed and treated early in the infant period. We report a 12-year-old boy with cervical spinal dysraphism which was erroneously diagnosed as focal muscular atrophy, a benign form of motor neuron disease. The patient was brought to our hospital because of rapid deterioration of symptoms. Careful evaluation disclosed a hairy dimple at the nuchal area, which led to the correct diagnosis. X-ray of the cervical spine showed spina bifida from C(4) to C(6) levels and fusion of the laminae of C(4) and C(5). spine MRI studies disclosed that the cervical cord was tethered caudally and dorsally, and the ventral nerve roots were markedly stretched, especially over the left side. Surgical intervention was undertaken and the patient's muscle power improved after untethering. The purpose of this report is to acquaint the reader with a surgically treatable condition that may appear to be benign focal amyotrophy. skin lesion at the nuchal area should be carefully looked for.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
2/133. motor neuron disease with predominantly upper extremity involvement: a clinicopathological study.We report two autopsy cases of motor neuron disease (MND) patients with an unusual type of muscular atrophy predominantly affecting the shoulder girdle and the upper extremities with proximal dominance. Both patients are considered to be clinically categorized into the El Escorial suspected form of amyotrophic lateral sclerosis (ALS). At autopsy, they showed marked loss of spinal anterior horn cells accompanied by astrogliosis positively immunostained with anti-glial fibrillary acidic protein antibody at the cervical level. At the lumbosacral level, anterior horn neurons were relatively well preserved and Bunina bodies, ubiquitin-positive skein-like inclusions and Lewy body-like inclusions were observed in the remaining neurons. In one patient, brain stem motor neurons (nerves V, VII, XII) and motor cortex, including Betz cells, were also affected and the corticospinal tracts were degenerated at the level of the thoracic and lumbar spinal cord. Pathological findings of this patient are consistent with those of ALS. In the other patient, the motor cortex, brain stem motor nuclei and the corticospinal tracts were well preserved, which is pathologically compatible with progressive spinal muscular atrophy. These patients with such a peculiar pattern of progressive muscular atrophy should be placed in a subgroup of ALS.- - - - - - - - - - ranking = 5keywords = spinal (Clic here for more details about this article) |
3/133. Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report.We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). The serum muscle enzymes were normal and the needle electromyography showed active and chronic denervation. The muscle biopsy demonstrated active and chronic denervation compatible with spinal muscular atrophy. Analysis of exons 7 and 8 of survival motor neuron gene through polymerase chain reaction did not show deletions. Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
4/133. Cervical spondylotic amyotrophy with intramedullary cavity formation.STUDY DESIGN: A case report. OBJECTIVE: To show that an intramedullary lesion was the cause of cervical spondylotic amyotrophy. SUMMARY OF BACKGROUND DATA: Cervical spondylotic amyotrophy is the clinical syndrome characterized by muscle wasting and weakness in the upper extremities without a remarkable sensory loss or spastic tetraparesis. It is still unclear whether the ventral roots or the anterior horn are selectively damaged. methods: magnetic resonance imaging and delayed computed tomographic myelography were performed on a patient who showed severe wasting of the left triceps muscle without any sensory disturbance or long tract sign. RESULTS: On sagittal magnetic resonance images, a linear area was noted within the spinal cord at C6 and C7 spinal segments, which showed low signal intensity on T1-weighted image and high signal intensity on T2-weighted image. On axial T1-weighted image intramedullary low signal intensity area was observed, which was located in the left anterior horn. On axial T2-weighted image the area showed high signal intensity. A delayed (6 hours) computed tomographic scan after intrathecal injection of metrizamide revealed intramedullary enhancement in the area corresponding to the left anterior horn, which would represent cavitation or cystic necrosis. CONCLUSIONS: This is the first case report of cervical spondylotic amyotrophy, in which intramedullary lesion was confirmed only at the affected side of the spinal cord.- - - - - - - - - - ranking = 3keywords = spinal (Clic here for more details about this article) |
5/133. An unusual form of spinal muscular atrophy with mental retardation occurring in an inbred population.Three sibs are described suffering from hereditary non-progressive spinal muscular atrophy with non-progressive mental retardation. One of them had in addition signs of pyramidal tract involvement. Muscular weakness was more pronounced proximally than distally and the neck muscles were severely involved. Th.ey all had small skulls and several associated congenital malformations were observed including syndactyly of the left hand in 1 patient. The patients belong to a small inbred community in the netherlands. Erythropoietic protoporphyria was also present in the family but segregated independently. This combination of "congenital" mental retardation with "congenital" non-progressive spinal muscular atrophy is believed to represent a new syndrome, caused by a rare recessive gene.- - - - - - - - - - ranking = 6keywords = spinal (Clic here for more details about this article) |
6/133. autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology.An autopsied case of autosomal recessive hereditary spastic paraplegia with severe neurogenic muscular atrophy is described herein. This patient, a 16-year-old woman, presented with gait disturbance. She developed progressive spastic paralysis of the upper and lower limbs and mental deterioration. She became bedridden at approximately 40years of age. dysarthria worsened at 45 years of age. She died of pneumonia at 50 years of age. Her younger sister has shown similar clinical symptoms and became bedridden at 37 years of age. Their parents were second cousins. autopsy revealed a severely atrophic brain, weighing 720 g. The cerebral cortex was thin, and the white matter was extremely reduced in volume. Microscopically, neuronal loss and variable astrogliosis with diffuse spongy changes were evident at the cerebral cortex, thalamic nuclei, basal ganglia and hippocampus. The remaining neurons were atrophied with heavy deposition of lipofuscin. In the spinal cord, the pyramidal tracts as well as the dorsal spinocerebellar tracts were degenerated. In addition, marked loss of the anterior horn cells was seen. Severe neuronal loss of the nucleus gracilis was also detected. In contrast, only mild degeneration of the ventral spinocerebellar tracts and fasciulus cuneatus in the spinal cord were observed. In the frozen sections of skeletal muscle, severe neurogenic atrophy and fatty infiltration were evident. In addition, several rimmed vacuoles were observed in the atrophic fibers, and cytochrome coxidase-deficient fibers were present in part. Reduced nicotinamide adenine dinucleotide (NADH)-tetrazolium reductase reaction revealed abnormal accumulation of mitochondria around the center of the non-atrophic muscle fibers. It is suggested that an analysis of mitochondrial function of Japanese autosomal recessive hereditary spastic hemiplegia may provide additional information to clarify the pathogenesis.- - - - - - - - - - ranking = 2keywords = spinal (Clic here for more details about this article) |
7/133. Progressive spinal muscular atrophy in a case of hypokalamic periodic paralysis.A 47-year-old man with well-documented hypokalemic periodic paralysis demons-rated permanent myopathy as shown by biopsy. In addition there was clinical and biopsy evidence of progressive spinal muscular atrophy. The feature of the combination of these diseases is reported in a case and discussed.- - - - - - - - - - ranking = 5keywords = spinal (Clic here for more details about this article) |
8/133. Axial myopathy--an unrecognised entity.Axial myopathy (AM) is a rare neuromuscular disorder characterised by selective involvement of the spinal muscles with a bent spine and/or drooping head as leading clinical features. We here report the results of clinical, histopathological, MRI, molecular genetics and electrophysiological investigations carried out on six patients affected by pure axial myopathy. Symptoms appeared within an age range of 35 to 56 years. The first symptoms were difficulty in keeping the trunk and head in an upright position. Both bent spine and dropped head were reduced in a supine position. The disease was slowly progressive. muscle strength examination and muscle imaging revealed involvement of the spinal and neck extensor muscles only. serum CK was normal to slightly increased. EMG and muscle biopsy specimens obtained from spinal muscles showed an advanced chronic myopathic pattern. We conclude that axial myopathy may be much more common than previously thought, because gradual progression of cervical kyphosis may often be explained as a feature of normal ageing or as an associated sign of several neurological disorders and vertebral degeneration diseases.- - - - - - - - - - ranking = 3keywords = spinal (Clic here for more details about this article) |
9/133. Cervical myelopathy due to a "tight dural canal in flexion" with a posterior epidural cavity.A 41-year-old man noticed weakness and atrophy in his right hand and forearm resembling the non-progressive juvenile muscular atrophy of unilateral upper extremity (Hirayama's disease). MRI showed an abnormal cavity in the posterior epidural space which appeared on neck flexion communicating with the subarachnoid space in addition to the flattening of the lower cervical spinal cord on neck flexion. When evaluating atypical cases of Hirayama's disease, the pathomechanism demonstrated in the present case should be taken into consideration.- - - - - - - - - - ranking = 1.0272700102409keywords = spinal, canal (Clic here for more details about this article) |
10/133. gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations.A case of gyrate atrophy of the choroid and retina associated with hyperornithinemia has been subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acid was unique to this 28-year-old male, being absent in parents and siblings. He presented with progressive visual loss, and was found to have cataracts and large areas of peripheral lacunar atrophy. Clinically there was no other abnormality. However, he was hyperuricemic and has an abnormal EEG. Despite otherwise normal biochemical indices of hepatic, renal, and muscle function; selective catheterization of an artery, the hepatic vein, the renal vein, and a deep forearm vein showed all of these circulatory beds to be producing ornithine according to arteriovenous difference measurements. cerebrospinal fluid and urine contained increased amounts of ornithine. Though electromyography was normal, the muscle biopsy was abnormal. Clinical tests including arginine loading, glucose tolerance testing, and other measurements of blood variables provided inferences as to the metabolic locus of the abnormality. The syndrome is a systemic multiorgan disorder in which the choroid and retina would appear to be target organs and the hyperornithinemia to be of, as yet, undetermined cause and pathogenic significance.- - - - - - - - - - ranking = 1keywords = spinal (Clic here for more details about this article) |
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