Objective: To analyze the follow-up of idiopathic late onset cerebellar ataxia (ILOCA) patients. ... more Objective: To analyze the follow-up of idiopathic late onset cerebellar ataxia (ILOCA) patients. Background ILOCA patients represent a group of neurodegenerative diseases of unknown cause affecting the cerebellum and its afferent and efferent connections. Design/Methods: Clinical and laboratory observations of the course of 50 adult patients initially evaluated in an cerebellar ataxia outpatient clinic over 20 years, with a diagnosis of ILOCA, and followed up regularly. The presence of REM sleep behavior disorder (RBD) was evaluated as probable RBD, based on clinical validated criteria, or definite RBD, based on polysomnographic confirmation. Results: From a total of 50 patients with ILOCA (excluding all patients with acquired or genetically defined cerebellar ataxia), 24 subsequently developed criteria for MSA type-C. 26 patients remained with the diagnosis of ILOCA, among them 8 with a probable diagnosis of late cerebellar atrophy of Marie-Foix-Alajouanine syndrome (MFAS). The group of patients with late cerebellar atrophy of MFAS had an older mean age (72.8 years) than MSA-C patients (59.5 years). Neurological examination, including a thorough eye movement assessment did not differentiate patients with MSA-C and ILOCA. Clinically or definite RBD was diagnosed in 46 % of patients. However, patients who developed MSA type C had a highly percentage of probable and definite previously diagnosis of RBD (83.4%). On the other hand, among patients with ILOCA, the percentage of RBD was significantly lower (11.5%, p Conclusions: In this Brazilian series of ILOCA patients, MSA-C was clinically diagnosed in 48 % of cases and 52 % remained with the diagnosis of ILOCA, including a 12 % with the diagnosis of late cerebellar atrophy of MFAS. RBD diagnosis, either clinical or polysomnographic should included as an important tool in the differentiation of MSA type C and ILOCA. Disclosure: Dr. Teive has nothing to disclose. Dr. Munhoz has nothing to disclose. Dr. Arruda has nothing to disclose. Dr. Werneck has nothing to disclose.
The spectrum of clinical and electrophysiological features in hereditary neuropathy with liabilit... more The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. Median nerve in the carpal tunnel at the wrist, ulnar nerve in its groove at the elbow, fibular nerve in the head of the fibula at the knee, radial nerve in its groove of the humerus and suprascapular nerve in its notch at the supraspinous fossa were found as focal neuropathies. One patient presented with persistent writer's cramp after ulnar nerve palsy. Nerve conduction studies showed focal neuropathy in all patients and concomitant generalized symmetrical neuropathy in eight patients. Molecular analysis of the PMP22 gene detected deletion of the 1.5-Mb fragment in all patients.
OBJECTIVE: This was an open prospective study to determined clinical response to albuterol in Dok... more OBJECTIVE: This was an open prospective study to determined clinical response to albuterol in Dok-7 CMS. BACKGROUND: Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases which can have different management in specific subgroups. In CMS related to Dok-7 deficiency (Dok-7 CMS), treatment can be accomplished with cholinesterase inhibitors, or according to the response, associate at 3-4 DAP. The ephedrine can be used in the treatment of Dok-7 CMS, but it cannot be prescribed in USA. Albuterol, or salbutamol, is a selective B2-adrenergic agonist, which was previous described associated with improvement of Dok-7 CMS. However, more prospective studies are necessary to determinate the most effective dosing regimen and long-term response. DESIGN/METHODS: Albuterol was prescribed at dose of 2 mg three times daily (6mg/day) for all patients. The response was assessment by QMG score at baseline, 3, 6, 9 and 12 months; ADL-MG score and 6 minutes walking test at baseline and after 12 months in follow-up clinic visits. Tolerance to albuterol was evaluated. RESULTS: The sample population consisted of 5 patients (2 male and 3 female), with a mean age of 27 + 11.06 years, who presented CMS with c.1124_1127dupTGCC and/or p.S45L mutations in DOK7 gene. We noted a progressive response to treatment in QMG score since 3 months of albuterol treatment. In ADL-MG scores and 6 minutes walking test, comparison between baseline and after 12 months reveals an important beneficial response to albuterol treatment. The side effects of albuterol were well tolerated in all patients. CONCLUSIONS: Albuterol was an effective treatment to Dok-7 CMS. This study provides class IV evidence that albuterol given at dose 6 mg/day improves measured by the QMG score, ADL-MG score and 6 minutes walking test. The dose of albuterol was well-tolerated and lesser than previous described to treat patients with Dok-7 CMS. Disclosure: Dr. Lorenzoni has nothing to disclose. Dr. Scola has received personal compensation for activities with Merck Serono as scientific advisor board. Dr. Kay has nothing to disclose. Dr. Paranhos has nothing to disclose. Dr. Pinheiro has nothing to disclose. Dr. Filla has nothing to disclose. Dr. Lochmuller has nothing to disclose. Dr. Werneck has nothing to disclose.
A lesão dos músculos esqueléticos na miastenia grave é objeto de controvérsiias, com respeito ao ... more A lesão dos músculos esqueléticos na miastenia grave é objeto de controvérsiias, com respeito ao significado dos achados 6,8,12. Alguns autores os valorizam em. demasia 12 e outros dão pouca importância na diferenciação das doenças neuromusculares 8 . A discrepância das interpretações pode estar relacionada com a fase da doença, métodos histológicos e o número de cortes examinados 1,
RESUMO -Foram estudadas as enzimas séricas (creatinaquinase, desidrogenase láctica, aldolase, asp... more RESUMO -Foram estudadas as enzimas séricas (creatinaquinase, desidrogenase láctica, aldolase, aspartato e alanina aminotransferase) de 817 pacientes e eletromiografias (EMG) de 588 casos de portadores de doenças neuromusculares. As enzimas e as EMG foram relacionadas utilizando testes de estatística descritiva e do quiquadrado. Foi encontrado aumento importante das enzimas séricas relacionadas com EMG de padrão miopático (mais importante com a creatinaquinase, seguido da aldolase, desidrogenase láctica, aspartato aminotransferase e alanina aminotransferase), e, inversamente, normalidade ou discreto aumento nas EMG normais ou com padrão de desinervação. As EMG com padrões de desinervação não têm qualquer relação com a elevação das enzimas séricas. SUMMARY-This study reports the relationship of the serum enzymes (creatinekinase 817 cases, lactic dehydrogenase 784 cases, aldolase 718 cases, aspartate aminotransferase 767 cases and alanine aminotransferase 760 cases) and electromyography (EMG) of 588 cases (20 normal, 299 with myopathic pattern, 209 with denervation and 69 with neuromyopathic pattern) in several neuromuscular disorders. The relationships were studied using descriptive statistic and chi-square tests. It was found a statistical significance with the increased serum enzyme level with the myopathic EMG pattern and an inverse relationship with the denervation EMG. This relation was more important with the creatinekinase, following aldolase and lactic dehydrogenase. The EMG denervation pattern did not have any relation with serum enzyme levels.
The chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an unusual but important ... more The chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an unusual but important complication of hematopoietic stem cell transplantation (HSCT) rarely reported to date. We describe a 17-year-old woman with a diagnosis of acute myeloid leukemia due to Fanconi's anemia who was submitted to allogeneic HSCT and developed CIDP as part of graft-versus-host disease. Investigation showed high cerebrospinal fluid protein; electrophysiological studies revealed sensory-motor demyelinating polyradiculoneuropathy; muscle and nerve biopsy were compatible with CIDP.
OBJECTIVE: We analyzed the recurrence rate and incidence of new thymoma in a series of patients w... more OBJECTIVE: We analyzed the recurrence rate and incidence of new thymoma in a series of patients with well-controlled MG. BACKGROUND: Thymoma screening is recommended at the onset of myasthenia gravis (MG) or when patients with MG present with clinical deterioration or a progressive increase of anti-acetylcholine receptor antibody. However, it is unknown if it is necessary to repeat the screening of thymoma at fixed intervals, even in the absence of MG deterioration, when the initial screening is negative. DESIGN/METHODS: We study MG patients with follow-up for more than five years, well-controlled disease, a first contrast-enhanced chest computerized tomography (CT) at the beginning of the disease and a second contrast-enhanced chest CT after five years. MG was considered well-controlled according to the Myasthenia Gravis Foundation of America (MGFA) classification and myasthenia gravis composite (MGC). RESULTS: The sample consisted of 53 patients (44 female and 9 male), aged 17 to 72 years (median 41.8 years). The follow-up in our hospital varied between 75 and 472 months, with a mean time of 182.2±96.99 months. The MGFA classification and MGC score demonstrated that our patients9 conditions were well controlled at the time the second chest CT was performed. The chest CT detected thymus abnormalities in 8 patients at the initial screening and no abnormalities in all patients at a second screening after 5 years. Twenty-one patients were thymectomized. The suspicion of thymoma based on the initial chest CT screening of 8 patients was confirmed by histopathological study in all cases. CONCLUSIONS: These findings indicate that routine screening for thymoma at fixed follow-up intervals is not needed for patients with well-controlled MG. The findings of this study support the classical opinion that screening for thymoma should be recommended only if there is clinical deterioration due to the disease. Disclosure: Dr. Lorenzoni has nothing to disclose. Dr. Augusto has nothing to disclose. Dr. Kay has nothing to disclose. Dr. Scola has received personal compensation for activities with Merck Serono as scientific advisor board. Dr. Werneck has nothing to disclose.
roradiological features beyond the typical cerebellar peduncle hyperintensities that were found m... more roradiological features beyond the typical cerebellar peduncle hyperintensities that were found minimal in this instance. FXTAS is expected to be less severe in females because of the presence of two X chromosomes, subject to random inactivation. It has been suggested that expression of the disease in women may be due to preferential inactivation of the X chromosome carrying the normal FMR1 allele and we have shown this to be the case for our patient in leukocyte DNA. However, this result does not necessarily represent the situation in other tissues, including the CNS. FXTAS can no longer be considered as a condition affecting only males but as an X-linked dominant condition with a milder clinical picture in females. Because the prevalence of the premutation is quite high (ϳ1 in 260 in females and 1 in 810 males), FXTAS may turn out to be much more frequent than currently appreciated, even in females. Until more is known about the incidence of FXTAS in female carriers, this disorder should be added to the differential diagnosis of a late-onset postural tremor, focal dystonia, or progressive cerebellar ataxia in females.
Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of ac... more Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of acquired myopathies. We present a series of 32 patients, predominance of young adult patients, diagnosed with toxic myopathy. The most common substances inducing myopathy were corticosteroids (56.2%) followed by the propoxyphene, neuroleptics, zidovudine and drug-induced hypokalemia. The investigation showed normal serum creatine kinase levels in 65.4%, myopathic pattern of the needle electromyography in 40% and the more frequent histological diagnosis of the muscle biopsy was type 2 fiber atrophy (59.3%). Clinical features, etiology, course of the disease, serum levels of muscular enzymes, electromyographic features and, especially, muscle biopsy features are discussed.
The involvement of skeletal striated muscle in leprosy is considered secondary due to peripheral ... more The involvement of skeletal striated muscle in leprosy is considered secondary due to peripheral neuropathy, but some studies point it to a primary muscle lesion. In order to investigate the muscle involvement in leprosy, we studied 40 patients (lepromatous 23, tuberculoid 13, borderline 2 and indeterminate 2). The motor nerve conduction of the peroneal nerves had a reduction of the velocity, decreased compound muscle action potential and sometimes absence of potentials. The electromyographic study of the anterior tibial muscle showed signs of recent and chronic denervation in 77.5% of the cases and no myopathic potentials. The anterior tibial muscle biopsy revealed denervation in 45% of the cases, interstitial inflammatory myopathy in 30% and mixed (myopathic and neuropathic) pattern in 12.5%. Acid fast bacillus was detected in 25% of the cases, always in the interstitial tissue. Inflammatory reaction was present in the interstitial space and in patients with the lepromatous type. The histological findings clearly defined the presence of the so-called "Leprous Interstitial Myositis" on the top of denervation signs.
RESUMO -Relatamos dois casos de malformação de Chiari do tipo 1, com apresentações clínicas pouco... more RESUMO -Relatamos dois casos de malformação de Chiari do tipo 1, com apresentações clínicas pouco usuais. O primeiro caso refere-se a uma paciente de 17 anos, com quadro agudo de insuficiência respiratória e o segundo caso a uma paciente com síndrome vestibular associada a síndrome cerebelar leve e cefaléia. Em ambos os casos o exame neurológico demonstrou a presença de nistagmo do tipo "downbeating". Enfatizamos a valorização da semiologia neurológica, determinando a investigação complementar adequada e o tratamento efetivo. PALAVRAS-CHAVE: Chiari, insuficiência respiratória, síndromes vestibular e cerebelar, nistagmo "downbeating". Type I Chiari malformation: report of two cases with unusual clinical presentation ABSTRACT -We describe two patients with Chiari type I malformation with unusual clinical presentation. The first one with clinical picture of acute respiratory insuficiency and the second one with vestibular and mild cerebellar syndrome and headache. In both cases the neurological examination demonstrated the presence of "downbeating nystagmus". We emphasize the value of neurological semiology, determining a correct complementary evaluation and effective treatment.
RESUMO -Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inf... more RESUMO -Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inferiores com predomínio distal com início há 7 anos. Na evolução apresentou fraqueza muscular nos membros superiores. O exame físico mostrava nervos cranianos sem alterações, hipotrofia bilateral de quadriceps e interósseos dos pés, redução da força muscular mais intensa em tibiais anteriores e interósseos dorsais dos pés e reflexos tendinosos globalmente hipoativos. Foi realizado teste de estimulação repetitiva que mostrou decremento maior que 10% no nervo fibular e ulnar. A dosagem de anticorpos anti-receptor de acetilcolina foi positiva. Tomografia computadorizada de tórax foi normal. Dosagem de hormônios tireoidianos mostrou evidências laboratoriais de hipertireoidismo, porém sem manifestações clínicas. Foi iniciado tratamento com piridostigmina havendo melhora importante do quadro clínico. A fraqueza distal é um sintoma inicial raro na miastenia grave (MG). Contudo, a MG deve entrar no diagnóstico diferencial de doenças que cursam com fraqueza muscular distal de membros superiores ou inferiores. PALAVRAS-CHAVE: miastenia grave, teste de estimulação repetitiva, músculos distais.
s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S165 P433 C... more s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S165 P433 Clinical electromyography correlation in patients admitted to a university hospital C. Kay, R. Scola, P. Lorenzoni, L. Werneck Universidade Federal do Paraná, Curitiba, Brazil Introduction: Electromyography (EMG) is indicated to neurophysiological assessment of the peripheral nervous system. The interpretation of the results depend on the clinical correlation, but its contribution to the diagnosis and management of inpatients is not often reported in the literature. The aim of this study was correlate the clinical hypothesis with the results found in EMG, of inpatients at the Hospital de Clinicas, Universidade Federal do Paraná, within one year, to evaluate the contribution of the examination in the diagnosis of patients. Methods: A retrospective review of all EMG examination and medical records of patients admitted to HC-UFPR during one year period. In the medical records was obtained demographic data, specialty who request the exam, indication for the EMG, topography, result of exam and number of exams done in the same patient in the same year. Clinical hypothesis were grouped in topography. The results of EMG were correlated with clinical hypothesis as: confirmatory correlation, new diagnosis, incidental diagnosis, inconclusive diagnosis and normal. Results: We performed 406 EMG in one year period (210 exams in 204 inpatients). There were 123 males and 81 females, with mean age 38 year (range 4 months–91 years old). Five patients were submitted to additional EMG, one of them twice. Discussion: Confirmatory correlation found was similar to described in literature. However this study had a greater number of normal EMG. It occurred because in myopathy suspicion, the EMG sampling could be normal. In patients with peripheral neuropathy and normal EMG, the main symptom was pain. Since pain is conducted by small fiber caliber, the routine nerve conduction studies were unable to detect abnormalities of these fibers. In patients with neuromuscular junction dysfunction, repetitive stimulation test was normal in 47% of cases. P434 Ultrasonography support during the electrical evaluation of the peripheral respiratory muscle dysfunction J.M. Corredera, M. Salinas, E. Montes, S. Garcia Urquiza, C. Quijada Hospital Fundación Jimenez Diaz, Neurofisiologia Clínica, Madrid, Spain Question: Weakness of respiratory muscles has been found to be a frecuent symptom in the medical history of patients in Intensive Care, wich precede to flaccid paraylisis in some severe cases. Phrenic nerve stimulation, electrical (ES) or from cervical magnetic stimulation (CME), is an uncommon technique, often consider difficult to perform. We try to improve technique’s reliabilty by adding ultrasonography assessment during the evaluation of the peripheral respiratory muscle dysfunction at our institution. Methods: We performed 10 hemidiaphragms studies on 5 in-patients with clinical respiratory muscle dysfunction. Each phrenic nerve was estimulated transcutaneously in the neck at the posterior border of the sternocleidomastoid muscles, trying to minimize co-stimulation of the brachial plexus, wich could cause activation of the upper limb musculature. Square-wave impulses of 0.1-ms duration were delivered, using a conventional bipolar electrode. Diaphragmatic muscle action potentials were recorded with surface electrodes placed over the seventh intercostal space (active), at the costochondral juntion, and the xiphoid process (reference). Simultaneously ultranosography (Mmode traces) of the ipsilateral hemidiaphragm was performed. Results: Of the 10 studies, we obtained 5 normal hemidiaphragm potentials followed by normal motion (represented as a spikelike deflection) at the ultrasonography. In 3 cases, responses were markedly reduced in amplitude with increased latencies and decreased motion. One diaphragmatic response showed mild amplitude reduction but normal motion. We obtained no electrical response, with no motion in one study. Conclusion: Electrical stimulation can be difficult to accomplish as a consecuence of morphology of the subjet, anatomical variations of the nerve, and lack of uniformity establishing an standard protocol of recording and stimulation. Furthermore stimulation of many of the muscles of the upper thoracic cage, as well as other external artifacts, could be responsable for contaminating the electrical signal. We find ultranosonography support during electrical stimulation a realiable combination of techniques, that can helps to avoid false positive and negative results. P436 Assessing motor units with improved MUNIX A. Khomenko, I. Kobor, F. Stein, D. Baldaranov, S. Johannesen, T. Bruun, U. Bogdahn, W. Schulte-Mattler Department of Neurology, University Hospital Regensburg, Regensburg,
Objective: To analyze the follow-up of idiopathic late onset cerebellar ataxia (ILOCA) patients. ... more Objective: To analyze the follow-up of idiopathic late onset cerebellar ataxia (ILOCA) patients. Background ILOCA patients represent a group of neurodegenerative diseases of unknown cause affecting the cerebellum and its afferent and efferent connections. Design/Methods: Clinical and laboratory observations of the course of 50 adult patients initially evaluated in an cerebellar ataxia outpatient clinic over 20 years, with a diagnosis of ILOCA, and followed up regularly. The presence of REM sleep behavior disorder (RBD) was evaluated as probable RBD, based on clinical validated criteria, or definite RBD, based on polysomnographic confirmation. Results: From a total of 50 patients with ILOCA (excluding all patients with acquired or genetically defined cerebellar ataxia), 24 subsequently developed criteria for MSA type-C. 26 patients remained with the diagnosis of ILOCA, among them 8 with a probable diagnosis of late cerebellar atrophy of Marie-Foix-Alajouanine syndrome (MFAS). The group of patients with late cerebellar atrophy of MFAS had an older mean age (72.8 years) than MSA-C patients (59.5 years). Neurological examination, including a thorough eye movement assessment did not differentiate patients with MSA-C and ILOCA. Clinically or definite RBD was diagnosed in 46 % of patients. However, patients who developed MSA type C had a highly percentage of probable and definite previously diagnosis of RBD (83.4%). On the other hand, among patients with ILOCA, the percentage of RBD was significantly lower (11.5%, p Conclusions: In this Brazilian series of ILOCA patients, MSA-C was clinically diagnosed in 48 % of cases and 52 % remained with the diagnosis of ILOCA, including a 12 % with the diagnosis of late cerebellar atrophy of MFAS. RBD diagnosis, either clinical or polysomnographic should included as an important tool in the differentiation of MSA type C and ILOCA. Disclosure: Dr. Teive has nothing to disclose. Dr. Munhoz has nothing to disclose. Dr. Arruda has nothing to disclose. Dr. Werneck has nothing to disclose.
The spectrum of clinical and electrophysiological features in hereditary neuropathy with liabilit... more The spectrum of clinical and electrophysiological features in hereditary neuropathy with liability to pressure palsies (HNPP) is broad. We analyze a series of Brazilian patients with HNPP. Correlations between clinical manifestations, laboratory features, electrophysiological analyze, histological and molecular findings were done. In five cases, more than one episode occurred before diagnosis. Median nerve in the carpal tunnel at the wrist, ulnar nerve in its groove at the elbow, fibular nerve in the head of the fibula at the knee, radial nerve in its groove of the humerus and suprascapular nerve in its notch at the supraspinous fossa were found as focal neuropathies. One patient presented with persistent writer's cramp after ulnar nerve palsy. Nerve conduction studies showed focal neuropathy in all patients and concomitant generalized symmetrical neuropathy in eight patients. Molecular analysis of the PMP22 gene detected deletion of the 1.5-Mb fragment in all patients.
OBJECTIVE: This was an open prospective study to determined clinical response to albuterol in Dok... more OBJECTIVE: This was an open prospective study to determined clinical response to albuterol in Dok-7 CMS. BACKGROUND: Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases which can have different management in specific subgroups. In CMS related to Dok-7 deficiency (Dok-7 CMS), treatment can be accomplished with cholinesterase inhibitors, or according to the response, associate at 3-4 DAP. The ephedrine can be used in the treatment of Dok-7 CMS, but it cannot be prescribed in USA. Albuterol, or salbutamol, is a selective B2-adrenergic agonist, which was previous described associated with improvement of Dok-7 CMS. However, more prospective studies are necessary to determinate the most effective dosing regimen and long-term response. DESIGN/METHODS: Albuterol was prescribed at dose of 2 mg three times daily (6mg/day) for all patients. The response was assessment by QMG score at baseline, 3, 6, 9 and 12 months; ADL-MG score and 6 minutes walking test at baseline and after 12 months in follow-up clinic visits. Tolerance to albuterol was evaluated. RESULTS: The sample population consisted of 5 patients (2 male and 3 female), with a mean age of 27 + 11.06 years, who presented CMS with c.1124_1127dupTGCC and/or p.S45L mutations in DOK7 gene. We noted a progressive response to treatment in QMG score since 3 months of albuterol treatment. In ADL-MG scores and 6 minutes walking test, comparison between baseline and after 12 months reveals an important beneficial response to albuterol treatment. The side effects of albuterol were well tolerated in all patients. CONCLUSIONS: Albuterol was an effective treatment to Dok-7 CMS. This study provides class IV evidence that albuterol given at dose 6 mg/day improves measured by the QMG score, ADL-MG score and 6 minutes walking test. The dose of albuterol was well-tolerated and lesser than previous described to treat patients with Dok-7 CMS. Disclosure: Dr. Lorenzoni has nothing to disclose. Dr. Scola has received personal compensation for activities with Merck Serono as scientific advisor board. Dr. Kay has nothing to disclose. Dr. Paranhos has nothing to disclose. Dr. Pinheiro has nothing to disclose. Dr. Filla has nothing to disclose. Dr. Lochmuller has nothing to disclose. Dr. Werneck has nothing to disclose.
A lesão dos músculos esqueléticos na miastenia grave é objeto de controvérsiias, com respeito ao ... more A lesão dos músculos esqueléticos na miastenia grave é objeto de controvérsiias, com respeito ao significado dos achados 6,8,12. Alguns autores os valorizam em. demasia 12 e outros dão pouca importância na diferenciação das doenças neuromusculares 8 . A discrepância das interpretações pode estar relacionada com a fase da doença, métodos histológicos e o número de cortes examinados 1,
RESUMO -Foram estudadas as enzimas séricas (creatinaquinase, desidrogenase láctica, aldolase, asp... more RESUMO -Foram estudadas as enzimas séricas (creatinaquinase, desidrogenase láctica, aldolase, aspartato e alanina aminotransferase) de 817 pacientes e eletromiografias (EMG) de 588 casos de portadores de doenças neuromusculares. As enzimas e as EMG foram relacionadas utilizando testes de estatística descritiva e do quiquadrado. Foi encontrado aumento importante das enzimas séricas relacionadas com EMG de padrão miopático (mais importante com a creatinaquinase, seguido da aldolase, desidrogenase láctica, aspartato aminotransferase e alanina aminotransferase), e, inversamente, normalidade ou discreto aumento nas EMG normais ou com padrão de desinervação. As EMG com padrões de desinervação não têm qualquer relação com a elevação das enzimas séricas. SUMMARY-This study reports the relationship of the serum enzymes (creatinekinase 817 cases, lactic dehydrogenase 784 cases, aldolase 718 cases, aspartate aminotransferase 767 cases and alanine aminotransferase 760 cases) and electromyography (EMG) of 588 cases (20 normal, 299 with myopathic pattern, 209 with denervation and 69 with neuromyopathic pattern) in several neuromuscular disorders. The relationships were studied using descriptive statistic and chi-square tests. It was found a statistical significance with the increased serum enzyme level with the myopathic EMG pattern and an inverse relationship with the denervation EMG. This relation was more important with the creatinekinase, following aldolase and lactic dehydrogenase. The EMG denervation pattern did not have any relation with serum enzyme levels.
The chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an unusual but important ... more The chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an unusual but important complication of hematopoietic stem cell transplantation (HSCT) rarely reported to date. We describe a 17-year-old woman with a diagnosis of acute myeloid leukemia due to Fanconi's anemia who was submitted to allogeneic HSCT and developed CIDP as part of graft-versus-host disease. Investigation showed high cerebrospinal fluid protein; electrophysiological studies revealed sensory-motor demyelinating polyradiculoneuropathy; muscle and nerve biopsy were compatible with CIDP.
OBJECTIVE: We analyzed the recurrence rate and incidence of new thymoma in a series of patients w... more OBJECTIVE: We analyzed the recurrence rate and incidence of new thymoma in a series of patients with well-controlled MG. BACKGROUND: Thymoma screening is recommended at the onset of myasthenia gravis (MG) or when patients with MG present with clinical deterioration or a progressive increase of anti-acetylcholine receptor antibody. However, it is unknown if it is necessary to repeat the screening of thymoma at fixed intervals, even in the absence of MG deterioration, when the initial screening is negative. DESIGN/METHODS: We study MG patients with follow-up for more than five years, well-controlled disease, a first contrast-enhanced chest computerized tomography (CT) at the beginning of the disease and a second contrast-enhanced chest CT after five years. MG was considered well-controlled according to the Myasthenia Gravis Foundation of America (MGFA) classification and myasthenia gravis composite (MGC). RESULTS: The sample consisted of 53 patients (44 female and 9 male), aged 17 to 72 years (median 41.8 years). The follow-up in our hospital varied between 75 and 472 months, with a mean time of 182.2±96.99 months. The MGFA classification and MGC score demonstrated that our patients9 conditions were well controlled at the time the second chest CT was performed. The chest CT detected thymus abnormalities in 8 patients at the initial screening and no abnormalities in all patients at a second screening after 5 years. Twenty-one patients were thymectomized. The suspicion of thymoma based on the initial chest CT screening of 8 patients was confirmed by histopathological study in all cases. CONCLUSIONS: These findings indicate that routine screening for thymoma at fixed follow-up intervals is not needed for patients with well-controlled MG. The findings of this study support the classical opinion that screening for thymoma should be recommended only if there is clinical deterioration due to the disease. Disclosure: Dr. Lorenzoni has nothing to disclose. Dr. Augusto has nothing to disclose. Dr. Kay has nothing to disclose. Dr. Scola has received personal compensation for activities with Merck Serono as scientific advisor board. Dr. Werneck has nothing to disclose.
roradiological features beyond the typical cerebellar peduncle hyperintensities that were found m... more roradiological features beyond the typical cerebellar peduncle hyperintensities that were found minimal in this instance. FXTAS is expected to be less severe in females because of the presence of two X chromosomes, subject to random inactivation. It has been suggested that expression of the disease in women may be due to preferential inactivation of the X chromosome carrying the normal FMR1 allele and we have shown this to be the case for our patient in leukocyte DNA. However, this result does not necessarily represent the situation in other tissues, including the CNS. FXTAS can no longer be considered as a condition affecting only males but as an X-linked dominant condition with a milder clinical picture in females. Because the prevalence of the premutation is quite high (ϳ1 in 260 in females and 1 in 810 males), FXTAS may turn out to be much more frequent than currently appreciated, even in females. Until more is known about the incidence of FXTAS in female carriers, this disorder should be added to the differential diagnosis of a late-onset postural tremor, focal dystonia, or progressive cerebellar ataxia in females.
Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of ac... more Several drugs and toxic substances can cause muscular abnormalities and are frequent causes of acquired myopathies. We present a series of 32 patients, predominance of young adult patients, diagnosed with toxic myopathy. The most common substances inducing myopathy were corticosteroids (56.2%) followed by the propoxyphene, neuroleptics, zidovudine and drug-induced hypokalemia. The investigation showed normal serum creatine kinase levels in 65.4%, myopathic pattern of the needle electromyography in 40% and the more frequent histological diagnosis of the muscle biopsy was type 2 fiber atrophy (59.3%). Clinical features, etiology, course of the disease, serum levels of muscular enzymes, electromyographic features and, especially, muscle biopsy features are discussed.
The involvement of skeletal striated muscle in leprosy is considered secondary due to peripheral ... more The involvement of skeletal striated muscle in leprosy is considered secondary due to peripheral neuropathy, but some studies point it to a primary muscle lesion. In order to investigate the muscle involvement in leprosy, we studied 40 patients (lepromatous 23, tuberculoid 13, borderline 2 and indeterminate 2). The motor nerve conduction of the peroneal nerves had a reduction of the velocity, decreased compound muscle action potential and sometimes absence of potentials. The electromyographic study of the anterior tibial muscle showed signs of recent and chronic denervation in 77.5% of the cases and no myopathic potentials. The anterior tibial muscle biopsy revealed denervation in 45% of the cases, interstitial inflammatory myopathy in 30% and mixed (myopathic and neuropathic) pattern in 12.5%. Acid fast bacillus was detected in 25% of the cases, always in the interstitial tissue. Inflammatory reaction was present in the interstitial space and in patients with the lepromatous type. The histological findings clearly defined the presence of the so-called "Leprous Interstitial Myositis" on the top of denervation signs.
RESUMO -Relatamos dois casos de malformação de Chiari do tipo 1, com apresentações clínicas pouco... more RESUMO -Relatamos dois casos de malformação de Chiari do tipo 1, com apresentações clínicas pouco usuais. O primeiro caso refere-se a uma paciente de 17 anos, com quadro agudo de insuficiência respiratória e o segundo caso a uma paciente com síndrome vestibular associada a síndrome cerebelar leve e cefaléia. Em ambos os casos o exame neurológico demonstrou a presença de nistagmo do tipo "downbeating". Enfatizamos a valorização da semiologia neurológica, determinando a investigação complementar adequada e o tratamento efetivo. PALAVRAS-CHAVE: Chiari, insuficiência respiratória, síndromes vestibular e cerebelar, nistagmo "downbeating". Type I Chiari malformation: report of two cases with unusual clinical presentation ABSTRACT -We describe two patients with Chiari type I malformation with unusual clinical presentation. The first one with clinical picture of acute respiratory insuficiency and the second one with vestibular and mild cerebellar syndrome and headache. In both cases the neurological examination demonstrated the presence of "downbeating nystagmus". We emphasize the value of neurological semiology, determining a correct complementary evaluation and effective treatment.
RESUMO -Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inf... more RESUMO -Relatamos o caso de uma mulher de 30 anos com quadro de fraqueza muscular nos membros inferiores com predomínio distal com início há 7 anos. Na evolução apresentou fraqueza muscular nos membros superiores. O exame físico mostrava nervos cranianos sem alterações, hipotrofia bilateral de quadriceps e interósseos dos pés, redução da força muscular mais intensa em tibiais anteriores e interósseos dorsais dos pés e reflexos tendinosos globalmente hipoativos. Foi realizado teste de estimulação repetitiva que mostrou decremento maior que 10% no nervo fibular e ulnar. A dosagem de anticorpos anti-receptor de acetilcolina foi positiva. Tomografia computadorizada de tórax foi normal. Dosagem de hormônios tireoidianos mostrou evidências laboratoriais de hipertireoidismo, porém sem manifestações clínicas. Foi iniciado tratamento com piridostigmina havendo melhora importante do quadro clínico. A fraqueza distal é um sintoma inicial raro na miastenia grave (MG). Contudo, a MG deve entrar no diagnóstico diferencial de doenças que cursam com fraqueza muscular distal de membros superiores ou inferiores. PALAVRAS-CHAVE: miastenia grave, teste de estimulação repetitiva, músculos distais.
s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S165 P433 C... more s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S165 P433 Clinical electromyography correlation in patients admitted to a university hospital C. Kay, R. Scola, P. Lorenzoni, L. Werneck Universidade Federal do Paraná, Curitiba, Brazil Introduction: Electromyography (EMG) is indicated to neurophysiological assessment of the peripheral nervous system. The interpretation of the results depend on the clinical correlation, but its contribution to the diagnosis and management of inpatients is not often reported in the literature. The aim of this study was correlate the clinical hypothesis with the results found in EMG, of inpatients at the Hospital de Clinicas, Universidade Federal do Paraná, within one year, to evaluate the contribution of the examination in the diagnosis of patients. Methods: A retrospective review of all EMG examination and medical records of patients admitted to HC-UFPR during one year period. In the medical records was obtained demographic data, specialty who request the exam, indication for the EMG, topography, result of exam and number of exams done in the same patient in the same year. Clinical hypothesis were grouped in topography. The results of EMG were correlated with clinical hypothesis as: confirmatory correlation, new diagnosis, incidental diagnosis, inconclusive diagnosis and normal. Results: We performed 406 EMG in one year period (210 exams in 204 inpatients). There were 123 males and 81 females, with mean age 38 year (range 4 months–91 years old). Five patients were submitted to additional EMG, one of them twice. Discussion: Confirmatory correlation found was similar to described in literature. However this study had a greater number of normal EMG. It occurred because in myopathy suspicion, the EMG sampling could be normal. In patients with peripheral neuropathy and normal EMG, the main symptom was pain. Since pain is conducted by small fiber caliber, the routine nerve conduction studies were unable to detect abnormalities of these fibers. In patients with neuromuscular junction dysfunction, repetitive stimulation test was normal in 47% of cases. P434 Ultrasonography support during the electrical evaluation of the peripheral respiratory muscle dysfunction J.M. Corredera, M. Salinas, E. Montes, S. Garcia Urquiza, C. Quijada Hospital Fundación Jimenez Diaz, Neurofisiologia Clínica, Madrid, Spain Question: Weakness of respiratory muscles has been found to be a frecuent symptom in the medical history of patients in Intensive Care, wich precede to flaccid paraylisis in some severe cases. Phrenic nerve stimulation, electrical (ES) or from cervical magnetic stimulation (CME), is an uncommon technique, often consider difficult to perform. We try to improve technique’s reliabilty by adding ultrasonography assessment during the evaluation of the peripheral respiratory muscle dysfunction at our institution. Methods: We performed 10 hemidiaphragms studies on 5 in-patients with clinical respiratory muscle dysfunction. Each phrenic nerve was estimulated transcutaneously in the neck at the posterior border of the sternocleidomastoid muscles, trying to minimize co-stimulation of the brachial plexus, wich could cause activation of the upper limb musculature. Square-wave impulses of 0.1-ms duration were delivered, using a conventional bipolar electrode. Diaphragmatic muscle action potentials were recorded with surface electrodes placed over the seventh intercostal space (active), at the costochondral juntion, and the xiphoid process (reference). Simultaneously ultranosography (Mmode traces) of the ipsilateral hemidiaphragm was performed. Results: Of the 10 studies, we obtained 5 normal hemidiaphragm potentials followed by normal motion (represented as a spikelike deflection) at the ultrasonography. In 3 cases, responses were markedly reduced in amplitude with increased latencies and decreased motion. One diaphragmatic response showed mild amplitude reduction but normal motion. We obtained no electrical response, with no motion in one study. Conclusion: Electrical stimulation can be difficult to accomplish as a consecuence of morphology of the subjet, anatomical variations of the nerve, and lack of uniformity establishing an standard protocol of recording and stimulation. Furthermore stimulation of many of the muscles of the upper thoracic cage, as well as other external artifacts, could be responsable for contaminating the electrical signal. We find ultranosonography support during electrical stimulation a realiable combination of techniques, that can helps to avoid false positive and negative results. P436 Assessing motor units with improved MUNIX A. Khomenko, I. Kobor, F. Stein, D. Baldaranov, S. Johannesen, T. Bruun, U. Bogdahn, W. Schulte-Mattler Department of Neurology, University Hospital Regensburg, Regensburg,
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