1/212. Cervicomedullary astrocytoma simulating a neuromuscular disorder.A 12-year-old male developed progressive proximal upper extremity weakness over a 3- to 4-year period. The clinical findings of proximal upper extremity weakness and atrophy, prominent scapular winging, and no sensory deficits or upper motor neuron signs suggested a neuromuscular disorder. electromyography was consistent with a chronic denervating disorder involving the upper cervical anterior horn cells or their axons. A cervical magnetic resonance image revealed a large intramedullary mass extending from the inferior aspect of the fourth ventricle down to the level of T2. A biopsy of the lesion was consistent with a low-grade astrocytoma.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
2/212. Chronic hepatitis b and neurogenic muscle disease: case report.A 17 year-old boy with chronic hepatitis b who developed left-sided muscle wasting is reported. When other possible known diseases as the cause of the neurogenic muscle disease were excluded it was hypothesised that there was a relation between the chronic hepatitis b infection and the neurogenic muscle disease. An immunopathogenesis could be explained by the presence of HBsAg in the cerebral spinal fluid.- - - - - - - - - - ranking = 0.32836750700998keywords = spinal (Clic here for more details about this article) |
3/212. A case of McLeod syndrome with chronic renal failure.A 50-year-old man with the rare McLeod syndrome, associated with glomerular lesion to the end stage of chronic renal failure and death, is reported. McLeod syndrome is an X-linked recessive disorder on the basis of abnormal expression of the Kell blood group antigens and absence of erythrocyte surface Kx antigen. Most often the clinical and pathological findings are retinitis pigmentosa to blindness, progressive chronic neuropathy, cortical atrophy, dilated cardiomyopathy, and glomerular lesion with chronic renal failure. Among the laboratory parameters the most important are very low level of cholesterol and triglycerides, then various numbers of acanthocytes in peripheral blood smears and sometimes in urine (as in our case).- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
4/212. Subaxial cervical synovial cyst presenting with myelopathy. Report of three cases.Synovial cysts occur infrequently in the spinal canal and are most often associated with degenerative facet joints. Despite the prevalence of degenerative spinal disease, symptomatic synovial cysts are extremely uncommon. There have been only two previously reported cases of subaxial degenerative synovial cysts of the cervical spine in patients who presented with a clinical picture of spinal cord compression. The authors report three additional patients treated for degenerative cervical synovial cysts who presented with myelopathy. In all three patients the cyst was successfully excised and a good clinical outcome achieved.- - - - - - - - - - ranking = 0.98510252102993keywords = spinal (Clic here for more details about this article) |
5/212. A novel frameshift mutation in the McLeod syndrome gene in a Japanese family.We report a novel mutation in the XK gene (XK) in a Japanese patient with McLeod syndrome. A 50-year-old man showed progressive muscular atrophy, choreic movement, elevated level of serum creatinine kinase, and acanthocytosis. The expression level of all the Kell antigens in erythrocyte was decreased and molecular analysis revealed a single-base (T) deletion at the nucleotide position 1095 in XK. This deletion caused a frameshift in translation, leading to a premature stop codon at the amino acid position 408. We conclude this single-base deletion causes defective Kx protein, which is responsible for the McLeod phenotype in this patient.- - - - - - - - - - ranking = 88.201186276534keywords = muscular atrophy, atrophy (Clic here for more details about this article) |
6/212. A case of McLeod syndrome with unusually severe myopathy.A 51-year-old man developed weakness and muscle atrophy in the legs at the age of 41, later followed by choreiform involuntary movements. Neurological and laboratory examinations revealed severe muscle weakness and atrophy, and areflexia in all the extremities, acanthocytosis and an elevated serum creatine kinase level. Together with these findings, the weak expression of Kell blood group antigens and the absence of the Kx antigen led to a definite diagnosis of McLeod syndrome for his condition. brain magnetic resonance imaging revealed marked atrophy of the head of the caudate nuclei. Although immunocytochemical analysis of dystrophin in muscle specimens from our patient revealed normal staining, we found prominent fiber size variability, central nuclei, and connective tissue proliferation as well as necrotic and regenerating fibers, which are as a whole compatible with the myopathology of muscular dystrophy. Moreover, muscle computerized tomography of the lower extremities revealed the 'selectivity pattern' characteristically reported in muscular dystrophies including Duchenne type muscular dystrophy. The muscular symptoms and pathology in McLeod syndrome have been reported to be mild, but the present case clearly shows that the muscular features in this condition may be much more severe than previously thought.- - - - - - - - - - ranking = 3keywords = atrophy (Clic here for more details about this article) |
7/212. Progressive myelopathy caused by dural arteriovenous fistula at the craniocervical junction--case report.A 68-year-old male presented an unusual dural arteriovenous fistula (AVF) located at the craniocervical junction. magnetic resonance imaging revealed dilated perimedullary veins around the spinal cord at C-1 and C-2 levels, as well as high intensity signals in the spinal cord on T2-weighted images. Vertebral angiography identified an AVF at the point where the right vertebral artery penetrates the dura. The fistula was a single and direct communication between the vertebral artery and the spinal vein. Surgical interruption of the fistula at its venous side resulted in prompt improvement of both motor and sensory signs and symptoms.- - - - - - - - - - ranking = 0.98510252102993keywords = spinal (Clic here for more details about this article) |
8/212. Hereditary neuropathy and vocal cord paralysis in a man with childhood diphtheria.We present the case of a 37-year-old Afghani man with a history of childhood diphtheria, who was diagnosed with bilateral vocal cord paralysis at age 15 years. At about this time he developed progressive muscular wasting and distally predominant weakness, and subsequently developed respiratory insufficiency, necessitating nocturnal ventilatory support. His examination suggested a distal symmetric sensorimotor neuropathy, and his brother was similarly affected, although to a lesser degree. electromyography (EMG) and nerve conduction studies revealed this process to be purely axonal. A diagnosis of possible hereditary motor and sensory neuropathy (HMSN) type IIc, hereditary axonal polyneuropathy with vocal cord paralysis, is proposed, although the question of early diphtheritic involvement of the vocal cords and peripheral nerves is also considered.- - - - - - - - - - ranking = 0.0043911305303727keywords = childhood (Clic here for more details about this article) |
9/212. D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. cardiomegaly with aortic insufficiency was diagnosed. magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
10/212. Acute care pediatric electromyography.The recognition of uncommon pediatric motor unit disorders or unusual clinical presentations of common illnesses, such as guillain-barre syndrome (GBS), have increased the need for electromyography (EMG) in childhood critical care units. There are two different clinical sets, one appropriate to newborns and infants and the other to older children. Some illnesses that present as an acute floppy infant are not found in the differential diagnosis of motor unit disorders in the older child or adult. These include spinal muscular atrophy, postvaccine poliomyelitis, intrauterine GBS, infantile botulism, and severe myopathies, such as myotonia dystrophy, and some glycogen storage diseases. An appreciation of the neurophysiological maturational norms is essential to an effective pediatric EMG consultation for children ages 0-3 years. Additionally, the neuromuscular complications of extended intubation and sepsis in children are gaining broader recognition. An increased dialogue between clinical neurophysiologists and pediatric neurologists and intensivists in both neonatal and pediatric intensive care units is essential.- - - - - - - - - - ranking = 112.25437790279keywords = muscular atrophy, spinal muscular atrophy, atrophy, spinal, childhood (Clic here for more details about this article) |
| | Next -> |