- Email: [email protected]
50. Neuromuscular involvement in chorea-acanthocytosis
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American Association of Neuromuscular & Electrodiagnostic Medicine / Clinical Neurophysiology 119 (2008) e27–e65
whether the patients had radiculopathy. All patients were asked to complete SF-36 for a measurement of quality of life (QOL). Demographic and clinical data of patients were collected and analyzed for possible correlation with radiculopathy. Result: Pain was reported as a problem in 54% (60 of 111) and was radiculopathic pain in 28.8% (32 of 111) of patients. The most commonly involved root was L5 (83.3%) followed by L4 (33.3%), C8 (26.7%), C7 (20%), S1 (13.3%), and C5–6 (6.7%). There were 15 of 32 patients with radiculopathic pain involved in more than 2 roots. Patients with radiculopathy had severe Parkinsonian symptoms and poor QOL score (p < 0.005). Conclusion: This study demonstrates high prevalence of radiculopathy in patients with Parkinson’s disease. It is probably related to increased shear force at the intervertebral disc by axial rigidity and flexed posture of spine. Radiculopathy should be considered by a physician as a possible deteriorating factor of QOL in patients with Parkinson’s disease. doi:10.1016/j.clinph.2007.11.098
49. Withdrawn doi:10.1016/j.clinph.2007.11.099
50. Neuromuscular involvement in chorea-acanthocytosis—S. Raasch, S. Hadjikoutis (West Glamorgan, United Kingdom) Introduction: Chorea-acanthocytosis is an autosomal recessive condition with clinical and radiological features similar to those seen in Huntington’s disease. Acanthocytosis on peripheral blood smear can confirm the diagnosis. However, in some cases, acanthocytes may be absent or appear late in the course of the disease. Neuropathic and myopathic involvement is common and may help with the diagnosis. We report a case of chorea-acanthocytosis and review the typical neuromuscular involvement of this disorder. Case report: A 37-year-old male presented with 3-year history of generalized chorea affecting his face, trunk, and limbs, dysarthria and dysphagia, and behavior/personality changes. On examination, his speech was dysarthric. There was chorea affecting all limbs, trunk, facial muscles, and tongue. Deep tendon reflexes were diminished in the upper limbs and absent in the lower limbs. Laboratory testing was significant for elevation in creatine phosphokinase (CPK) at 8560 IU/L (normal <200). Genetic tests for Huntington’s disease, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia 17 were negative. Magnetic resonance imaging of the brain showed bilateral caudate atrophy. Neurophysiology showed evidence of chronic sensory and motor axonal neuropathy and myopathy. Three peripheral blood smears failed to show acanthocytosis. However, a fourth sample 6 months later revealed >10% of acanthocytes. Myopathy and peripheral neuropathy are common in choreaacanthocytosis. Increased concentrations of CPK are observed in the majority of patients, even prior to other neurological manifestations. Rhabdomyolysis is a rare complication. Neurophysiological studies may show evidence of motor sensory axonal peripheral neuropathy and myopathy. Conclusions: The diagnosis of chorea-acanthocytosis should be considered in cases of a progressive chorea with clinical, biochemical, and neurophysiological evidence of neuromyopathy even in
cases where acanthocytes are not detected on the initial peripheral blood smears. doi:10.1016/j.clinph.2007.11.100
51. Peripheral neuropathy in inflammatory bowel disease— F.A. Gondim, B.C. Teles, G.R. Oliveira, E´.F. Brasil, A.C. Costa, P.S. Aquino, M.L. Souza, O.C. Vale, L.B. Braga, F.H. Rola (Fortaleza, Ceara, Brazil) Introduction: Different peripheral neuropathy (PN) subtypes were described in inflammatory bowel disease (IBD) patients, but their prevalence is unknown. Objectives: To describe the epidemiology of PN in a cohort of IBD patients. Methods: There were 37 patients with Crohn’s disease (CD) (19 women) and 65 with ulcerative colitis (UC) (35 women) who underwent standard neurological evaluation by neurologists with quantitative vibration assessment, electromyography, and testing for common PN causes. Descriptive statistics and t-test were used for group comparison. Results: Half of the CD patients (N = 19, 12 women) had PN or sensory complaints suggestive of small fiber neuropathy (SFN). Eight (6 women) had PN with large-fiber involvement: 1 demyelinating sensorimotor polyneuropathy (SM PN), 1 sensory PN, 3 axonal SM PN, 3 axonal SM PN and superimposed carpal tunnel syndrome (CTS), with borderline or low B12 (N = 4), and chronic metronidazole exposure (N = 1). Nine (5 women) had small-fiber neuropathy (SFN): with prolonged disease course and lower B12 levels than group 1 (6 with borderline or low B12). One patient had isolated CTS. Half of the UC patients (N = 31, 18 women) had PN or SFN-like syndrome. Fourteen (8 women) had PN with large-fiber involvement: 10 SM PN (3 pure axonal and 7 with superimposed CTS or demyelinating features), 4 sensory PN (1 also with CTS), 1 with diabetes. Seven patients had SFN (4 women), 2 with diabetes. Ten patients had isolated CTS. Conclusions: Mild clinical or subclinical PN, frequently cryptogenic, is common in IBD, especially in women. Symmetric, axonal SM PN with predominant sensory complaints and SFN like symptoms were the most common subtypes. Dr. Gondim is a speaker for Boehringer Ingelheim. Francisco De Assis Aquino Gondim, MD, MSc, Recipient of the 2007 IFCN Fellowship Award. doi:10.1016/j.clinph.2007.11.101
52. Liver transplantation for familial amyloidotic polyneuropathy—M. Cruz, M. Saporta, C. Andre´, S. Novis, J. Ribeiro (Rio de Janeiro, Brazil) Objectives: To describe the results of neurological and electroneuromyography (ENMG) evaluations done before and after liver transplantation (LT) in familial amyloidotic polyneuropathy (FAP) type I patients followed since April 1997. Methods: Patients were annually submitted to neurological and ENMG evaluations addressing the most relevant aspects of FAP type I before and after LT.
American Association of Neuromuscular & Electrodiagnostic Medicine / Clinical Neurophysiology 119 (2008) e27–e65
whether the patients had radiculopathy. All patients were asked to complete SF-36 for a measurement of quality of life (QOL). Demographic and clinical data of patients were collected and analyzed for possible correlation with radiculopathy. Result: Pain was reported as a problem in 54% (60 of 111) and was radiculopathic pain in 28.8% (32 of 111) of patients. The most commonly involved root was L5 (83.3%) followed by L4 (33.3%), C8 (26.7%), C7 (20%), S1 (13.3%), and C5–6 (6.7%). There were 15 of 32 patients with radiculopathic pain involved in more than 2 roots. Patients with radiculopathy had severe Parkinsonian symptoms and poor QOL score (p < 0.005). Conclusion: This study demonstrates high prevalence of radiculopathy in patients with Parkinson’s disease. It is probably related to increased shear force at the intervertebral disc by axial rigidity and flexed posture of spine. Radiculopathy should be considered by a physician as a possible deteriorating factor of QOL in patients with Parkinson’s disease. doi:10.1016/j.clinph.2007.11.098
49. Withdrawn doi:10.1016/j.clinph.2007.11.099
50. Neuromuscular involvement in chorea-acanthocytosis—S. Raasch, S. Hadjikoutis (West Glamorgan, United Kingdom) Introduction: Chorea-acanthocytosis is an autosomal recessive condition with clinical and radiological features similar to those seen in Huntington’s disease. Acanthocytosis on peripheral blood smear can confirm the diagnosis. However, in some cases, acanthocytes may be absent or appear late in the course of the disease. Neuropathic and myopathic involvement is common and may help with the diagnosis. We report a case of chorea-acanthocytosis and review the typical neuromuscular involvement of this disorder. Case report: A 37-year-old male presented with 3-year history of generalized chorea affecting his face, trunk, and limbs, dysarthria and dysphagia, and behavior/personality changes. On examination, his speech was dysarthric. There was chorea affecting all limbs, trunk, facial muscles, and tongue. Deep tendon reflexes were diminished in the upper limbs and absent in the lower limbs. Laboratory testing was significant for elevation in creatine phosphokinase (CPK) at 8560 IU/L (normal <200). Genetic tests for Huntington’s disease, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia 17 were negative. Magnetic resonance imaging of the brain showed bilateral caudate atrophy. Neurophysiology showed evidence of chronic sensory and motor axonal neuropathy and myopathy. Three peripheral blood smears failed to show acanthocytosis. However, a fourth sample 6 months later revealed >10% of acanthocytes. Myopathy and peripheral neuropathy are common in choreaacanthocytosis. Increased concentrations of CPK are observed in the majority of patients, even prior to other neurological manifestations. Rhabdomyolysis is a rare complication. Neurophysiological studies may show evidence of motor sensory axonal peripheral neuropathy and myopathy. Conclusions: The diagnosis of chorea-acanthocytosis should be considered in cases of a progressive chorea with clinical, biochemical, and neurophysiological evidence of neuromyopathy even in
cases where acanthocytes are not detected on the initial peripheral blood smears. doi:10.1016/j.clinph.2007.11.100
51. Peripheral neuropathy in inflammatory bowel disease— F.A. Gondim, B.C. Teles, G.R. Oliveira, E´.F. Brasil, A.C. Costa, P.S. Aquino, M.L. Souza, O.C. Vale, L.B. Braga, F.H. Rola (Fortaleza, Ceara, Brazil) Introduction: Different peripheral neuropathy (PN) subtypes were described in inflammatory bowel disease (IBD) patients, but their prevalence is unknown. Objectives: To describe the epidemiology of PN in a cohort of IBD patients. Methods: There were 37 patients with Crohn’s disease (CD) (19 women) and 65 with ulcerative colitis (UC) (35 women) who underwent standard neurological evaluation by neurologists with quantitative vibration assessment, electromyography, and testing for common PN causes. Descriptive statistics and t-test were used for group comparison. Results: Half of the CD patients (N = 19, 12 women) had PN or sensory complaints suggestive of small fiber neuropathy (SFN). Eight (6 women) had PN with large-fiber involvement: 1 demyelinating sensorimotor polyneuropathy (SM PN), 1 sensory PN, 3 axonal SM PN, 3 axonal SM PN and superimposed carpal tunnel syndrome (CTS), with borderline or low B12 (N = 4), and chronic metronidazole exposure (N = 1). Nine (5 women) had small-fiber neuropathy (SFN): with prolonged disease course and lower B12 levels than group 1 (6 with borderline or low B12). One patient had isolated CTS. Half of the UC patients (N = 31, 18 women) had PN or SFN-like syndrome. Fourteen (8 women) had PN with large-fiber involvement: 10 SM PN (3 pure axonal and 7 with superimposed CTS or demyelinating features), 4 sensory PN (1 also with CTS), 1 with diabetes. Seven patients had SFN (4 women), 2 with diabetes. Ten patients had isolated CTS. Conclusions: Mild clinical or subclinical PN, frequently cryptogenic, is common in IBD, especially in women. Symmetric, axonal SM PN with predominant sensory complaints and SFN like symptoms were the most common subtypes. Dr. Gondim is a speaker for Boehringer Ingelheim. Francisco De Assis Aquino Gondim, MD, MSc, Recipient of the 2007 IFCN Fellowship Award. doi:10.1016/j.clinph.2007.11.101
52. Liver transplantation for familial amyloidotic polyneuropathy—M. Cruz, M. Saporta, C. Andre´, S. Novis, J. Ribeiro (Rio de Janeiro, Brazil) Objectives: To describe the results of neurological and electroneuromyography (ENMG) evaluations done before and after liver transplantation (LT) in familial amyloidotic polyneuropathy (FAP) type I patients followed since April 1997. Methods: Patients were annually submitted to neurological and ENMG evaluations addressing the most relevant aspects of FAP type I before and after LT.