1/179. Stereotactic pallidotomy in a child with Hallervorden-Spatz disease. Case report.The authors present a case of Hallervorden-Spatz disease (HSD) in a 10-year-old boy treated with stereotactic pallidotomy for control of severe dystonia. Hallervorden-Spatz disease is a rare type of neuraxonal dystrophy that can be familial or sporadic. This is the first case of HSD reported in the literature in which a pallidotomy was performed. The patient had progressively worsening dystonias and spasms that prevented useful function of his entire right side and eventually threatened his respiratory ability. Pre- and postoperative magnetic resonance images are presented along with electrophysiological recordings made in the globus pallidus at the time of surgery. Functional improvement in the use of the patient's limbs and relief from the painful dystonia were observed. Stereotactic pallidotomy should be considered as a potential treatment in the management of HSD.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/179. A case of reflex sympathetic dystrophy (complex regional pain syndrome, type I) resolved by cerebral contusion.We present a case of refractory reflex sympathetic dystrophy (RSD) (complex regional pain syndrome, type I) whose symptoms (ongoing pain, allodynia, hyperhydrosis and temperature abnormalities) were resolved after the patient suffered a traumatic cerebral contusion in the left temporal lobe, which caused no neurological deficit. This case suggests that symptoms of some RSD patients may largely sustained by a complex network involving the brain.- - - - - - - - - - ranking = 5keywords = dystrophy (Clic here for more details about this article) |
3/179. Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports.Clinical studies of facioscapulohumeral muscular dystrophy (FSHD) rarely report muscle pain as a significant feature of the condition. We report four adult patients with FSHD in whom muscle pain was a presenting complaint and remains their most disabling symptom. These four patients were investigated using a pain questionnaire and diary. Inflammatory and metabolic causes of muscle pain were sought by muscle biopsy and a range of biochemical investigations. All patients reported between three and seven different pains of varying site and nature. None of the group had more than one painfree day per month and all complained of disturbed sleep. While some pains could potentially be attributed to postural problems, others were clearly myalgic in nature, though most often not specifically exercise-related. These myalgic pains could be particularly difficult to control. Results of metabolic investigations and muscle biopsy revealed no clue to the pathogenesis of these pains and there was no evidence for any exceptional inflammatory response. We believe that pain in FSHD is an under-reported but significant symptom and that further work is necessary to determine its prevalence, understand its cause and provide effective treatment.- - - - - - - - - - ranking = 5keywords = dystrophy (Clic here for more details about this article) |
4/179. sympathetic nervous system and pain: a clinical reappraisal.The target article discusses various aspects of the relationship between the sympathetic system and pain. To this end, the patients under study are divided into three groups. In the first group, called "reflex sympathetic dystrophy" (RSD), the syndrome can be characterized by a triad of autonomic, motor, and sensory symptoms, which occur in a distally generalized distribution. The pain is typically felt deeply and diffusely, has an orthostatic component, and is suppressed by the ischemia test. Under those circumstances, the pain is likely to respond to sympatholytic interventions. In a second group, called "sympathetically maintained pain" (SMP) syndrome, the principal symptoms are spontaneous pain, which is felt superficially and has no orthostatic component, and allodynia. These symptoms, typically confined to the zone of a lesioned nerve, may also be relieved by sympathetic blocks. Since the characteristics of the pain differ between RSD and SMP, the underlying kind of sympathetic-sensory coupling may also vary between these cases. A very small third group of patients exhibits symptoms of both RSD and SMP. The dependence or independence of pain on sympathetic function reported in most published studies seems to be questionable because the degree of technical success of the block remains uncertain. Therefore, pain should not be reported as sympathetic function independent until the criteria for a complete sympathetic block have been established and satisfied.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
5/179. Musculoskeletal manifestations of osteomalacia: report of 26 cases and literature review.OBJECTIVE: This study was undertaken to describe the musculoskeletal manifestations in a selected population of 26 patients with biopsy-proven osteomalacia (OM) and provide a literature update. methods: The 26 patients with biopsy-proven OM were selected from a total number of 79 patients who underwent anterior iliac crest biopsy. The diagnosis of OM was confirmed by the presence of an osteoid volume greater than 10%, osteoid width greater than 15 microm, and delayed mineralization assessed by double-tetracycline labeling. RESULTS: OM was caused by intestinal malabsorption in 13 patients, whereas six other patients presented with hypophosphatemia of different causes. Five elderly patients presented with hypovitaminosis D, and in two patients the OM was part of renal osteodystrophy. Twenty-three patients presented with bone pain and diffuse demineralization, whereas three other patients had normal or increased bone density. Characteristic pseudofractures were seen in only seven patients. Six of the 23 patients with diffuse demineralization had an "osteoporotic-like pattern" without pseudofractures. Prominent articular manifestations were seen in seven patients, including a rheumatoid arthritis-like picture in three, osteogenic synovitis in three, and ankylosing spondylitis-like in one. Two other patients were referred to us with the diagnosis of possible metastatic bone disease attributable to polyostotic areas of increased radio nuclide uptake caused by pseudofractures. Six patients also had proximal myopathy, two elderly patients were diagnosed as having polymalgia rheumatica, and two young patients were diagnosed as having fibromyalgia. One of the patients who presented with increased bone density was misdiagnosed as possible fluorosis. CONCLUSION: OM is usually neglected when compared with other metabolic bone diseases and may present with a variety of clinical and radiographic manifestations mimicking other musculoskeletal disorders.- - - - - - - - - - ranking = 1.9397591695502keywords = dystrophy, myopathy (Clic here for more details about this article) |
6/179. reflex sympathetic dystrophy in children.reflex sympathetic dystrophy is a syndrome characterized by pain in one or more extremities, usually associated with vasomotor changes. Its occurrence in childhood has long been thought to be rare. We describe six cases of pediatric reflex sympathetic dystrophy and suggest that this syndrome could be underdiagnosed in children and adolescents. Psychologic problems frequently play a role in this disorder, which often can be treated conservatively. We also point out that the diagnosis is mainly clinical. An early diagnosis can avoid unnecessary tests and potentially can improve response to treatment, and prognosis.- - - - - - - - - - ranking = 6keywords = dystrophy (Clic here for more details about this article) |
7/179. Hemicrania continua: ocular discomfort heralding painful attacks.It is known that in a minority of patients attacks of hemicrania continua may be accompanied by ipsilateral ocular discomfort. This symptom mostly occurs during exacerbations and is regularly concurrent with the pain. The observations reported here suggest that in hemicrania continua, ocular discomfort may, in rare cases, precede by a considerable length of time the onset of pain. It is postulated that the asynchronous appearance of these clinical features may reflect either an extreme fluctuation of the intensity of the pain or a dissociation of the pain from the ocular discomfort.- - - - - - - - - - ranking = 1.6928276816609keywords = ocular (Clic here for more details about this article) |
8/179. Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness.The mitochondrial mutation A-->G at nucleotide position 3243 is associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and other mitochondrial encephalomyopathies. We found this mutation in a 61-year-old patient who developed at the age of 54 a myopathy with painful muscle stiffness as the predominant symptom. Additionally hypacusis, a mild hemisensory syndrome and impaired glucose tolerance were present. Muscle histopathology showed few ragged red fibers. The mutation was detected heteroplasmatically in dna from muscle and blood. So far painful muscle stiffness has not been a known phenotype of the 3243 mutation.- - - - - - - - - - ranking = 1.8795183391003keywords = myopathy (Clic here for more details about this article) |
9/179. 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 = dystrophy (Clic here for more details about this article) |
10/179. reflex sympathetic dystrophy in pregnancy: nine cases and a review of the literature.OBJECTIVE: To better understand the diagnosis of reflex sympathetic dystrophy of the lower extremities in pregnant women. SUBJECT: Disease analysis using a retrospective series of nine cases and a review of the literature (57 patients and 159 sites of reflex sympathetic dystrophy). RESULTS: This disorder should be considered in any painful pelvic girdle syndrome or lower extremity pain. The hip is involved in 88% of cases. Symptoms develop in the third trimester of pregnancy, between the 26th and the 34th weeks. magnetic resonance imaging (MRI) provides an early, accurate, and very specific diagnosis, although standard radiography continues to be the first-line diagnostic tool. Fracture occurs in 19% of patients. The etiology and pathophysiology remain unclear, although pregnancy itself appears to play a significant role in this disease. Although locoregional mechanical factors partly explain reflex sympathetic dystrophy. hypertriglyceridemia appears to be a risk factor. This disorder develops independently, but the conclusion of pregnancy appears to be necessary for cure. reflex sympathetic dystrophy does not appear to affect the course of the pregnancy. Indications for cesarean delivery remain obstetrical and should be discussed when a fracture is involved. Simple therapeutic management using gentle physical therapy provides rapid and complete recovery in 2-3 months. CONCLUSION: reflex sympathetic dystrophy during pregnancy remains poorly understood and underestimated. Only joints of the inferior limbs are involved. MRI appears to be the best diagnostic tool. Pathogenesis remains unclear. Fractures are not rare. Treatment should be non-aggressive.- - - - - - - - - - ranking = 9keywords = dystrophy (Clic here for more details about this article) |
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