Diagnóstico e intervención médica en la debilidad muscular adquirida / Diagnóstico e intervenção médica na fraqueza muscular adquirida / Diagnosis and medical intervention in acquired muscle weakness

Introducción: la debilidad adquirida del paciente en la Unidad de Terapia Intensiva es un problema que le provoca deficiencias en su estado físico y funcional. Objetivo: sistematizar contenidos esenciales relacionados con la debilidad adquirida del paciente en la Unidad de Terapia Intensiva. Método: en el Hospital General Docente Dr. Agostinho Neto, entre enero y septiembre de 2019 se hizo una revisión narrativa sobre el tema a través de una búsqueda en bases de datos electrónicas (Biblioteca Virtual en Salud, LILACS, PubMed, SciELO, RedALyC, Scopus). Se localizaron 135 documentos y se eligieron 25 relevantes para el objetivo de la revisión. La información se estructuró en los siguientes aspectos sobre la debilidad adquirida del paciente en la Unidad de Terapia Intensiva: definición, antecedentes históricos, epidemiología, fisiopatología, diagnóstico e intervención médica. Resultados: se identificaron controversias sobre los criterios diagnósticos precisos, el protocolo de actuación para su prevención y rehabilitación y la carencia de un instrumento para estratificar el riesgo de esta complicación. Conclusiones: se sistematizaron las bases para la preparación de los profesionales en el diagnóstico, la prevención de la debilidad adquirida del paciente en la Unidad de Terapia Intensiva y su rehabilitación(AU)

Introduction: the patient's acquired weakness in the Intensive Care Unit is a problem that causes deficiencies in his physical and functional state. Objective: systematize essential contents related to the patient's acquired weakness in the Intensive Care Unit. Method: in the General Teaching Hospital "Dr. Agostinho Neto", between January and September 2019, a narrative review of the subject was made through a search in electronic databases (Virtual Health Library, LILACS, PubMed, SciELO, RedALyC, Scopus). 135 documents were located and 25 relevant for the purpose of the review were chosen. The information was structured in the following aspects about the patient's acquired weakness in the Intensive Care Unit: definition, historical background, epidemiology, pathophysiology, diagnosis and medical intervention. Results: controversies were identified about the precise diagnostic criteria, the protocol of action for its prevention and rehabilitation and the lack of an instrument to stratify the risk of this complication. Conclusions: the bases for the preparation of the professionals in the diagnosis, the prevention of the acquired weakness of the patient in the Intensive Care Unit and its rehabilitation were systematized(AU)

Introdução: a fragilidade adquirida pelo paciente na Unidade de Terapia Intensiva é um problema que causa deficiências no seu estado físico e funcional. Objetivo: sistematizar conteúdos essenciais relacionados à fraqueza adquirida do paciente na Unidade de Terapia Intensiva. Método: no Hospital Geral de Ensino "Dr. Agostinho Neto", entre janeiro e setembro de 2019, foi realizada uma revisão narrativa do assunto através de uma busca em bases de dados eletrônicas (Biblioteca Virtual em Saúde, LILACS, PubMed, SciELO, RedALyC, Scopus). Foram localizados 135 documentos e escolhidos 25 relevantes para a finalidade da revisão. As informações foram estruturadas nos seguintes aspectos sobre a fragilidade adquirida pelo paciente na Unidade de Terapia Intensiva: definição, histórico, epidemiologia, fisiopatologia, diagnóstico e intervenção médica. Resultados: foram identificadas controvérsias sobre os critérios diagnósticos precisos, o protocolo de ação para sua prevenção e reabilitação e a falta de um instrumento para estratificar o risco dessa complicação. Conclusões: foram sistematizadas as bases para o preparo dos profissionais no diagnóstico, a prevenção da fragilidade adquirida do paciente na Unidade de Terapia Intensiva e sua reabilitação(AU)

Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss

Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Thus, overexpression of FGF23 by the tumor cells leads to increased excretion of phosphate in the urine, mobilization of calcium and phosphate from bones, and the reduction of osteoblastic activity, ultimately resulting in widespread osteomalacia. Patients typically present with gradual muscular weakness and diffuse bone pain from pathologic fractures. The diagnosis is often delayed due to the non-specific nature of the symptoms and lack of clinical suspicion. While serum phosphorus and FGF23 testing can assist in making a clinical diagnosis of PMT, the responsible tumor is often difficult to locate. The pathologic diagnosis is often missed due to the rarity of PMTs and histologic overlap with other mesenchymal neoplasms. While patients can experience severe disabilities without treatment, excision is typically curative and results in a dramatic reversal of symptoms. Histologically, PMT has a variable appearance and can resemble other low grade mesenchymal tumors. Even though very few cases of PMT have been reported in the world literature, it is very important to consider this diagnosis in all patients with hypophosphatemic osteomalacia. Here we present a patient who suffered for almost 5 years without a diagnosis. Ultimately, the PMT was located on a 68Ga-DOTA TATE PET/CT scan and subsequently confirmed by histologic and immunohistologic study. Interestingly, strong positivity for FGFR1 by IHC might be related to the recently described FN1-FGFR1 fusion. Upon surgical removal, the patient's phosphate and FGF23 levels returned to normal and the patient's symptoms resolved.

A rare case of centronuclear myopathy with DNM2 mutation: genotype­phenotype correlation

Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined. Here, we describe the case of a 17-year-old female who presented with proximal muscle weakness along with congenital anomalous pulmonary venous connection (which has not been described in previous cases of CNM), scoliosis, and lung disease without a significant family history. Her creatine kinase level was normal. Histology, special stains, and electron microscope findings on her skeletal muscle biopsy showed CNM with the characteristic features of a DNM2 mutation, which was later confirmed by next-generation sequencing. This case expands the known clinical and pathological findings of CNM with DNM2 gene mutation.

Acute muscular weakness in children / Fraqueza muscular aguda em crianças

ABSTRACT Acute muscle weakness in children is a pediatric emergency. During the diagnostic approach, it is crucial to obtain a detailed case history, including: onset of weakness, history of associated febrile states, ingestion of toxic substances/toxins, immunizations, and family history. Neurological examination must be meticulous as well. In this review, we describe the most common diseases related to acute muscle weakness, grouped into the site of origin (from the upper motor neuron to the motor unit). Early detection of hyperCKemia may lead to a myositis diagnosis, and hypokalemia points to the diagnosis of periodic paralysis. Ophthalmoparesis, ptosis and bulbar signs are suggestive of myasthenia gravis or botulism. Distal weakness and hyporeflexia are clinical features of Guillain-Barré syndrome, the most frequent cause of acute muscle weakness. If all studies are normal, a psychogenic cause should be considered. Finding the etiology of acute muscle weakness is essential to execute treatment in a timely manner, improving the prognosis of affected children.

RESUMO A fraqueza muscular aguda (FMA) na criança é uma emergência pediátrica. Durante a abordagem diagnóstica, é crucial obter uma anamnese detalhada que inclua: início da fraqueza, história de estados febris associados, ingestão de substâncias tóxicas/toxinas, imunizações e história familiar. O exame neurológico também deve ser acurado. Nesta revisão, nós descrevemos as doeças mais frequentemente associadas com FMA, agrupadas pelo local de origem (desde o neurônio motor superior até a unidade motora). A detecção precoce de aumento de CK pode levar ao diagnóstico de miosite, e a hipopotassemia orienta para o diagnóstico de paralisia periódica. A oftalmoparesia, ptose e sinais bulbares são sugestivos de miastenia gravis ou de botulismo. Fraqueza distal e hiporeflexia são dados clínicos da síndrome de Guillain Barré (SGB), a mais frequente causa de FMA. Se todos os estudos são normais, uma causa psicogênica pode ser considerada. A busca da etiologia da FMA é essencial para que o tratamento seja feito a tempo, melhorando o prognóstico da criança afetada.

Assessment of acute motor deficit in the pediatric emergency room / Avaliação do déficit motor agudo no ambiente de pronto socorro pediátrico

Abstract Objectives: This review article aimed to present a clinical approach, emphasizing the diagnostic investigation, to children and adolescents who present in the emergency room with acute-onset muscle weakness. Sources: A systematic search was performed in PubMed database during April and May 2017, using the following search terms in various combinations: "acute," "weakness," "motor deficit," "flaccid paralysis," "child," "pediatric," and "emergency". The articles chosen for this review were published over the past ten years, from 1997 through 2017. This study assessed the pediatric age range, from 0 to 18 years. Summary of the data: Acute motor deficit is a fairly common presentation in the pediatric emergency room. Patients may be categorized as having localized or diffuse motor impairment, and a precise description of clinical features is essential in order to allow a complete differential diagnosis. The two most common causes of acute flaccid paralysis in the pediatric emergency room are Guillain-Barré syndrome and transverse myelitis; notwithstanding, other etiologies should be considered, such as acute disseminated encephalomyelitis, infectious myelitis, myasthenia gravis, stroke, alternating hemiplegia of childhood, periodic paralyses, brainstem encephalitis, and functional muscle weakness. Algorithms for acute localized or diffuse weakness investigation in the emergency setting are also presented. Conclusions: The clinical skills to obtain a complete history and to perform a detailed physical examination are emphasized. An organized, logical, and stepwise diagnostic and therapeutic management is essential to eventually restore patient's well-being and full health.

Resumo Objetivos: Apresentar uma abordagem clínica, enfatizar a investigação diagnóstica, voltada para crianças e adolescentes no pronto-socorro com fraqueza muscular de surgimento agudo. Fontes: Foi feita uma pesquisa sistemática na base de dados PubMed entre abril e maio de 2017, com os seguintes termos de pesquisa em várias combinações: "agudo", "fraqueza", "déficit motor", "paralisia flácida", "criança", "pediátrico" e "emergência". Os trabalhos escolhidos para esta revisão foram publicados nos últimos dez anos, de 1997 a 2017. Este trabalho aborda a faixa etária pediátrica, até 18 anos. Resumo dos dados: O déficit motor agudo é uma causa razoavelmente comum para crianças e adolescentes procurarem o pronto-socorro. Os pacientes podem ser classificados como com deficiência motora localizada ou difusa e uma descrição precisa das características clínicas é essencial para possibilitar um diagnóstico diferenciado completo. As duas causas mais comuns de paralisia flácida aguda no pronto-socorro pediátrico são síndrome de Guillain-Barré e mielite transversa, independentemente de outras etiologias serem consideradas, como encefalomielite disseminada aguda, mielite infecciosa, miastenia grave, derrame, hemiplegia alternante da infância, paralisia periódica, encefalite do tronco encefálico e fraqueza muscular funcional. Os algoritmos da investigação de fraqueza aguda localizada ou difusa na configuração de emergência também são apresentados. Conclusões: São enfatizadas as habilidades clínicas para obter um histórico completo e fazer um exame físico detalhado. Um manejo diagnóstico e terapêutico organizado, lógico e por etapas é essencial para eventualmente restaurar o bem-estar e a saúde total do paciente.

Resultados del tratamiento kinésico precoz y oportuno en un niño con Parálisis Facia / Results of early and timely kinetic treatment in a child with Facia paralysis

the case of a 12 years old male patient with right Facial Paralysis diagnosis begin his treatment in the SUK (Physiotherapy University Service). At the beginning of the treatment, the patient presents: a fascial alteration with noticeable muscle weakness on the right side and a increased muscular tone on the opposite side. The patient receive nine (9) sessions of physiotherapy treatment based on indirect selective electromiostimultion with exponential and rectangular current, asociated with muscle rehabilitation exercises and massotherapy. By this tecnic, the muscular thofysm is mantein. Once that the patient recovered the muscular functions, he were able to develop symmetry and sychrony on his gesture. The patient achive his total recuperation in a short time and with a low number of session without any complication associate to the treatment

Paciente de 12 años, de sexo masculino, con diagnóstico médico de parálisis facial derecha, que ingresa al Servicio Universitario de Kinesiología de la Facultad de Medicina de la UNNE. Al inicio del tratamiento, el paciente presenta: alteración de la fascie con una marcada hipotonía de la hemicara afectada y una leve hipertonía en el lado contralateral. Se realizaron nueve sesiones de tratamiento kinésico basado en electroestimulación muscular selectiva indirecta con corriente exponencial y rectangular, asociada a ejercicios de reeducación muscular y masoterapia. Mediante esta técnica se logra mantener el trofismo muscular; una vez que el paciente recupera las funciones musculares, posteriormente desarrolla simetría y sincronía en la realización de los gestos de la mímica. El paciente logra su recuperación total en un corto considerado breve, sin ninguna complicación derivada de la utilización de electroestimulación

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes

BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation disorder that can be clinically improved after oral CoQ10 supplementation. Thus, early diagnosis, first evoked by mitochondrial respiratory chain (MRC) spectrophotometric analysis, then confirmed by direct measurement of CoQ10 levels, is of critical importance to prevent irreversible damage in organs such as the kidney and the central nervous system. It is widely reported that CoQ10 deficient patients present decreased quinone-dependent activities (segments I + III or G3P + III and II + III) while MRC activities of complexes I, II, III, IV and V are normal. We previously suggested that CoQ10 defect may be associated with a deficiency of CoQ10-independent MRC complexes. The aim of this study was to verify this hypothesis in order to improve the diagnosis of this disease. RESULTS: To determine whether CoQ10 defect could be associated with MRC deficiency, we quantified CoQ10 by LC-MSMS in a cohort of 18 patients presenting CoQ10-dependent deficiency associated with MRC defect. We found decreased levels of CoQ10 in eight patients out of 18 (45 %), thus confirming CoQ10 disease. CONCLUSIONS: Our study shows that CoQ10 defect can be associated with MRC deficiency. This could be of major importance in clinical practice for the diagnosis of a disease that can be improved by CoQ10 supplementation.

Fraqueza muscular adquirida na UTI (ICU-AW): efeitos sistêmicos da eletroestimulação neuromuscular / Muscular weakness acquired in ICU (ICU-AW): effects of systemic neuromuscular electrical stimulation

Com os avanços tecnológicos alcançados atualmente na terapia intensiva e maior sobrevida dos pacientes, outros desafios têm surgido para os profissionais de saúde. Dentre alguns, destaca-se a fraqueza muscular adquirida na UTI (ICU-AW), caracterizada por paresia esquelética e respiratória dos músculos promovendo aumento nas taxas de mortalidade e comprometimento da qualidade de vida. Sua incidência varia de 30% a 60% e tem na síndrome da resposta inflamatória sistêmica (SIRS) e na disfunção de múltiplos órgãos (DMO) sua principal etiologia. Outros fatores de risco como a hiperglicemia, o uso de bloqueadores neuromusculares e sedativos, a imobilidade e a própria ventilação mecânica estão entre os mais comuns. Entre as medidas de combate à ICU-AW, está o conceito de mobilização precoce, bem como despertar diário e controle estreito da glicemia. Nesse contexto, a letroestimulação muscular apresenta-se como recurso de grande valia. Sua principal vantagem está no fato de poder ser empreendida independentemente da cooperação do paciente, e por ser capaz de gerar respostas musculares eficientes, bem como resultados satisfatórios na preservação da massa muscular, condicionamento físico e funcionalidade dos que usam essa ferramenta. Desfechos interessantes têm sido observados em diversos perfis de pacientes, como os de doença pulmonar obstrutiva crônica (DPOC) e traumatismo raquimedular (TRM). No paciente crítico, seu uso tem mostrado redução nos tempos de ventilação mecânica (VM), internação na UTI e maior funcionalidade dos pacientes. A relevância dos efeitos sistêmicos e metabólicos provenientes da eletroestimulação neuromuscular (ENM) tem sido a base para os estudos nos pacientes críticos. Portanto, a ICU-AW é uma realidade no cenário da terapia intensiva e sua prevenção tem dado margem à aparição de novas propostas e ferramentas na prevenção dessas complicações.

With technological advances currently achieved in intensive care and increased patient survival, other challenges have emerged to health professionals. Among some, there is acquired weakness in the ICU (ICU-AW), characterized by skeletal and respiratory muscle paresis promoting an increase in mortality and impaired quality of life. The range of occurrence is 30% to 60% of critically ill patients, and systemic inflammatory response syndrome (SIRS) and multiple organ dysfunction (MOD) are is the main etiology. Other risk factors such as hyperglycemia, the use of neuromuscular blockers and sedatives, immobility and mechanical ventilation are among the most common. Preventing ICU-AW is the concept of early mobilization and daily awakening and tight control of blood glucose. In this context, muscle electrostimulation appears as a great resource. This can be used undertaken regardless of the cooperation of the patient, and be able to generate efficient muscle responses showing satisfactory results in the preservation of muscle mass, physical fitness and functionality of using this tool. Interesting outcomes have been observed in several profiles of patients, such as chronic obstructive pulmonary disease (COPD) and spinal cord injury (SCI). In critically ill patients, its use has shown reduction in mechanical ventilation (MV) days, ICU length and increased functionality of patients. The relevance of the systemic and metabolic effects from the electrostimulation neuromuscular (NMES) has been the basis for studies in critically ill patients. The refore, the ICU-AW is a reality in the setting of intensive care and prevention has given rise to appearance of new proposals and tools in preventing these complications.

Analysis of three different equations for predicting quadriceps femoris muscle strength in patients with COPD / Análise de três diferentes fórmulas de predição de força muscular do quadríceps femoral em pacientes com DPOC

AbstractObjective: To compare equations for predicting peak quadriceps femoris (QF) muscle force; to determine the agreement among the equations in identifying QF muscle weakness in COPD patients; and to assess the differences in characteristics among the groups of patients classified as having or not having QF muscle weakness by each equation.Methods: Fifty-six COPD patients underwent assessment of peak QF muscle force by dynamometry (maximal voluntary isometric contraction of knee extension). Predicted values were calculated with three equations: an age-height-weight-gender equation (Eq-AHWG); an age-weight-gender equation (Eq-AWG); and an age-fat-free mass-gender equation (Eq-AFFMG).Results: Comparison of the percentage of predicted values obtained with the three equations showed that the Eq-AHWG gave higher values than did the Eq-AWG and Eq-AFFMG, with no difference between the last two. The Eq-AHWG showed moderate agreement with the Eq-AWG and Eq-AFFMG, whereas the last two also showed moderate, albeit lower, agreement with each other. In the sample as a whole, QF muscle weakness (< 80% of predicted) was identified by the Eq-AHWG, Eq-AWG, and Eq-AFFMG in 59%, 68%, and 70% of the patients, respectively (p > 0.05). Age, fat-free mass, and body mass index are characteristics that differentiate between patients with and without QF muscle weakness.Conclusions: The three equations were statistically equivalent in classifying COPD patients as having or not having QF muscle weakness. However, the Eq-AHWG gave higher peak force values than did the Eq-AWG and the Eq-AFFMG, as well as showing greater agreement with the other equations.

ResumoObjetivo:Comparar diferentes fórmulas de predição do pico de força muscular do quadríceps femoral (QF); investigar a concordância entre elas para identificar fraqueza muscular de QF em pacientes com DPOC; e verificar as diferenças nas características nos grupos de pacientes classificados com presença ou ausência dessa fraqueza de acordo com cada fórmula.Métodos: Cinquenta e seis pacientes com DPOC foram avaliados quanto ao pico de força muscular do QF por dinamometria (contração isométrica voluntária máxima de extensão de joelho). Os valores preditos foram calculados com três fórmulas: uma fórmula composta por idade-altura-peso-gênero (F-IAPG); uma por idade-peso-gênero (F-IPG); e uma por idade-massa magra-gênero (F-IMMG).Resultados: A comparação da porcentagem do predito obtida pelas fórmulas mostrou a F-IAPG com maiores valores do que os valores de F-IPG e F-IMMG, sem diferença entre as duas últimas. A F-IAPG apresentou concordância moderada com F-IPG e F-IMMG, enquanto essas últimas também apresentaram concordância moderada, mas menor, entre si. Do total de pacientes, a fraqueza muscular de QF (< 80% do predito) foi identificada por F-IAPG, F-IPG e F-IMMG em 59%, 68% e 70% dos pacientes, respectivamente (p > 0,05). Idade, massa magra e índice de massa corpórea são características que diferenciam pacientes com e sem fraqueza muscular de QF.Conclusões: As três fórmulas foram estatisticamente equivalentes para classificar pacientes com DPOC como portadores ou não de fraqueza muscular de QF. Entretanto, a F-IAPG apresentou maiores valores de pico de força do que F-IPG e F-IMMG, assim como maior concordância com as outras fórmulas.

Indicadores de fragilidad en adultos mayores del sistema público de salud de la ciudad de Antofagasta / Rates of frailty among older people ascribed to chilean primary care clinics

Background: Frailty is not universal among older people but increases the risk of dependence. Aim: To assess frailty among older people and its relationship with biological, psychological and social factors. Material and Methods: Seven hundred fifty four older people aged 73 ± 6 years (61% females), attending a public primary care were assessed. Frailty was defined according to Fried criteria that considers inexplicable weight loss, tiredness, muscle weakness and lack of physical activity. Results: Absence of frailty, pre-frailty and frailty was found in 26, 69 and 5% of participants, respectively. Significant differences between frailty groups were observed for age, gender, years of studies, minimental and self-efficacy scores. Among participants defined as being in a pre-frail condition, 59% were non-disabled without risk and 41% non-disabled in risk, according to the functional assessment for older people used in Chilean primary care clinics. Conclusions: Frailty among older people is associated with increasing age, education, cognitive status and self-efficacy.

Variante faringo-cérvico-braquial del síndrome de Guillain-Barré

El síndrome de Guillain-Barré es una polineuropatía desmielinizante inflamatoria aguda, existiendo variantes locorregionales poco frecuentes como la faringo-cérvico-braquial. Presentamos el caso de un varón de 63 años de edad que acudió a urgencias por debilidad de extremidades superiores y a nivel cervical, con incapacidad para deglutir y masticar, y una insuficiencia respiratoria aguda rápidamente progresiva por debilidad de músculos respiratorios, todo ello secundario a la variante faringo-cérvico-braquial del síndrome de Guillain-Barré. Esta variante, aunque poco frecuente, presenta un patrón clínico y unos criterios diagnósticos bien definidos, importantes de reconocer para poder así iniciar de forma precoz el tratamiento y mejorar el pronóstico, no siempre favorable, de estos pacientes.

Guillain-Barré syndrome is an acute inflammatory demyelinating polyneuropathy. Infrequent loco-regional variants, like the pharyngeal-cervical-brachial, have been described. We report the case of a 63-year-old male admitted to the emergency department with cervical and upper limb weakness, inability to swallow and chew, he also presented a rapidly progressive acute respiratory failure due to weakness of the respiratory muscles secondary to the pharyngeal-cervical-brachial variant of Guillain-Barré syndrome. This variant, although unusual, presents a well-defined clinical pattern and diagnostic criteria, which is important in order to start an early treatment to improve the prognosis, not always favorable, to these patients.

Paralisia periódica hipocalêmica tireotóxica em paciente de ascendência africana / Thyrotoxic hypokalemic periodic paralysis in patients of African descent

A paralisia periódica hipocalêmica tireotóxica (PPHT) é uma urgência endocrinológica caracterizada por ataques recorrentes de fraqueza muscular, associados à hipocalemia e à tireotoxicose. Essa patologia ocorre mais frequentemente em pacientes do sexo masculino, de origem asiática, sendo rara sua apresentação em pessoas de ascendência africana. O caso descrito mostra um paciente afrodescendente que apresentou tetraparesia associada à hipocalemia. Durante esse episódio foi realizado o diagnóstico de hipertireoidismo. A PPHT, embora rara, é potencialmente letal. Portanto, em casos de crises de paresias flácidas, essa hipótese diagnóstica deve ser sempre considerada, principalmente se associada à hipocalemia. Nessa situação, se não houver diagnóstico prévio de hipertireoidismo, este também deve ser considerado.

Thyrotoxic hypokalemic periodic paralysis (THPP) is an endocrine emergency marked by recurrent attacks of muscle weakness associated with hypokalemia and thyrotoxicosis. Asiatic male patients are most often affected. On the other hand, African descents rarely present this disease. The case described shows an afrodescendant patient with hypokalemia and tetraparesis, whose diagnosis of hyperthyroidism was considered during this crisis. The THPP, although rare, is potentially lethal. Therefore, in cases of flaccid paresis crisis this diagnosis should always be considered, especially if associated with hypokalemia. In this situation, if no previous diagnosis of hyperthyroidism, this should also be regarded.

Ataxia crónica en pediatría / [Chronic ataxia in childhood].

Chronic ataxias are an heterogeneous group of disorders that affect the child at different ages. Thus, the congenital forms, generally non progressive are observed from first months of life and are expressed by hypotonia and motor delay long before the ataxia became evident. The cerebral magnetic resonance images (MRI) may be diagnostic in some pictures like Joubert syndrome. The group of progressive hereditary ataxias, usually begin after the infant period. The clinical signs are gait instability and ocular apraxia that can be associated with oculocutaneous telangiectasias (ataxia-telangiesctasia) or with sensory neuropathy (Friedreich ataxia). In this review are briefly described congenital ataxias and in more detailed form the progressive hereditary ataxias autosomal recessive, autosomal dominants and mitochondrials. The importance of genetic study is emphasized, because it is the key to obtain the diagnosis in the majority of these diseases. Although now there are no treatments for the majority of progressive hereditary ataxias, some they have like Refsum disease, vitamine E deficiency, Coenzyme Q10 deficiency and others, thus the diagnosis in these cases is even more important. At present the diagnosis of childhood hereditary ataxia not yet treatable is fundamental to obtain suitable handling, determine a precise outcome and to give to the family an opportune genetic counseling.

Frequency and clinical manifestations of post-poliomyelitis syndrome in a brazilian tertiary care center / Frequência e manifestações clínicas da síndrome pós-poliomielite em um centro terciário brasileiro

OBJECTIVE: To determine the frequency and clinical manifestations of patients with post-poliomyelitis syndrome (PPS) in a Brazilian division of neuromuscular disorders. METHODS: A total of 167 patients with prior history of paralytic poliomyelitis was investigated for PPS, based on international diagnostic criteria. Other variables analyzed were: gender, race, age at poliomyelitis infection, age at PPS onset, and PPS symptoms. RESULTS: One hundred and twenty-nine patients presented PPS, corresponding to 77.2% of the studied population. 62.8% were women and 37.2% were men. Mean age of patients with PPS at onset of PPS symptoms was 39.9±9.69 years. Their main clinical manifestations were: new weakness in the previously affected limbs (69%) and in the apparently not affected limbs (31%); joint pain (79.8%); fatigue (77.5%); muscle pain (76%); and cold intolerance (69.8%). CONCLUSIONS: Most patients of our sample presented PPS. In Brazil, PPS frequency and clinical features are quite similar to those of other countries.

OBJETIVO: Determinar a frequência e as manifestações clínicas de pacientes com síndrome pós-poliomielite (SPP) em um setor terciário de doenças neuromusculares brasileiro. MÉTODOS: Um total de 167 pacientes com história prévia de poliomielite paralítica foi estudado para diagnóstico de SPP, de acordo com critérios diagnósticos internacionais. Além da SPP, as variáveis analisadas foram: gênero, raça, idade à época da poliomielite aguda e idade no início dos sintomas da SPP. RESULTADOS: Cento e vinte e nove pacientes apresentaram SPP, correspondendo a 77,2% da população estudada. Mulheres constituíram 62,8% dos pacientes e os homens, 37,2%. A média de idade dos pacientes com SPP à época do início dos sintomas foi de 39,9±9,69 anos. Suas principais manifestações clínicas foram: manifestações novas de fraqueza em membros previamente afetados (69%) e em membros aparentemente não afetados (31%); dores articulares (79,8%); fadiga (77,5%); dor muscular (76%) e intolerância ao frio (69,8%). CONCLUSÕES: A maioria dos pacientes da presente casuística apresentou SPP. No Brasil, a frequência e as características clínicas da SPP são similares às observadas em outros países.

[Evaluation of the diaphragmatic myopathy onset time among mechanically ventilated patients]

Critical illness diaphragmatic neuromyopathy are significant causes of weakness, morbidity and prolong mechanical ventilation among critically ill patients under mechanical ventilation. It is important determine the true initial time of neuromyopathic changes associated with critically ventilated patients. Based on new electrodiagnostic studies, electrophysiological studies of diaphragm and phrenic nerve, as an important muscle and nerve in ventilation, compared with other evaluating methods, have specific importance. This study was done to evaluate of the diaphragmatic myopathy onset time among mechanically ventilated patients using electrophysiological method. This descripvtive study was performed on 56 mechanically ventilated patients in intensive care unit without primary neuromuscular disease in Tabriz Imam Khomeini hospital in West of Iran between 2004-06 years. Electromyography [EMG] and nerve conduction velocity test were performed in the 4th and then in 4 days intervals. In 56 patients EMG and NCV performed at 4 and 8 days after mechanical ventilation, none of them had any evidence in favor of diaphragmatic myopathy. During the course of study, EMG were done on 24 patients in 12th days, that in three of them [12.5%], mild myopathy were reported. From 18 patients, considered in 16th days, only five [31.25%] of them showed mild myopathy. From 10 [100%] reminder patients, in 20th day, all of them had mild to moderate myopathy. According to these results, minimum duration of the diaphragmatic weakness onset time in mechanically ventilated patients with diverse causes in general critical care ward were 12 days and increased with prolonged time of mechanical ventilation