Factores que dificultan el diagnóstico del síndrome de taquicardia ortostática postural / Factors that hinder the diagnosis of postural orthostatic tachycardia syndrome

Las disautonomías son el resultado de un mal funcionamiento del sistema nervioso autónomo, entre las cuales se encuentra el síndrome de taquicardia ortostática postural, un problema de salud variable y complejo que tiene una prevalencia considerable, principalmente en adolescentes y mujeres. Este produce una amplia variedad de signos y síntomas que son similares a los de otras patologías, lo que, sumado a la falta de pruebas diagnósticas específicas, muchas veces retrasa el diagnóstico. A pesar de la existencia de criterios estandarizados para determinar la presencia del síndrome, existe aún una brecha en el conocimiento acerca del mismo. Esto dificulta el abordaje del padecimiento y, por consiguiente, su tratamiento oportuno. Conocer más sobre este síndrome y los factores que dificultan su diagnóstico temprano permitiría mejorar la atención de los pacientes y su calidad de vida

Dysautonomias are the result of a malfunction of the autonomic nervous system, among which is the postural orthostatic tachycardia syndrome, a variable and complex health problem that has a considerable prevalence, mainly in adolescents and women. It produces a wide variety of signs and symptoms that are similar to those of other pathologies, which, added to the lack of specific diagnostic tests, often delays diagnosis. Despite the existence of standardized criteria to determine the presence of the syndrome, there is still a gap in knowledge about it. This hinders the approach to the condition and, consequently, its timely treatment. Understanding more about this syndrome and the factors that hinder its early diagnosis would improve patient care and quality of life

Infecção pelo sars-cov-2 e disfunção autonômica ­ labilidade pressórica na covid-19 / Sars-cov-2 infection and autonomic dysfunction - pressure liability at covid-19

Homem de 53 anos, hipertenso e portador de bronquite, admitido em um serviço de urgência no dia 15 de dezembro de 2020 devido sintomas gripais, febre e cefaleia iniciados há oito dias. Após constatação de acometimento pulmonar importante mediante tomografia computadorizada (TC) de tórax, sugestivo de infecção pelo vírus SARS-CoV2, o paciente foi internado em unidade de terapia intensiva. Foi intubado no décimo dia de internação, e, dois dias após, evoluiu com labilidade pressórica importante, recorrendo ao uso de noradrenalina e nitroprussiato, além de outros anti-hipertensivos, conforme a necessidade. O quadro predominante foi a hipertensão arterial sistêmica, manifestada principalmente com a mudança de decúbito, sendo o maior valor pressórico registrado de 240x90 mmHg. A disautonomia também se manifestou por ausência de dejeções, sudorese excessiva e espasmos musculares. A frequência cardíaca se manteve estável e dentro dos parâmetros de normalidade.A partir do trigésimo dia de internação, observou-se melhora progressiva do quadro e reestabelecimento da homeostase. Obteve alta após 59 dias de internação, sem sequelas significativas. A explicação mais razoável para o caso é o aumento da resistência vascular periférica, por ação da angiotensina II, associada à supressão do sistema parassimpático, o que explica, também, a incompetência do barorreflexo para compensação da frequência cardíaca. Adicionalmente, o paciente estava em uso de carvedilol. Este caso enfatiza o desafio diagnóstico precoce da disautonomia em pacientes críticos, devido a carência de ferramentas adequadas para uso na prática cotidiana. A estimulação vagal pode constituir opção terapêutica eficaz, mas carece de mais estudos

A 53-year-old male, hypertensive and with bronchitis, was admitted to the emergency department on December 15, 2020 due to flu-like symptoms, fever and headache that started eight days ago. After finding significant lung involvement by chest computed tomography (CT) suggestive of SARS-CoV2 virus infection, the patient was admitted to the intensive care unit. He was intubated on the tenth day of hospitalization, and, 2 days later, he evolved with significant pressure lability, using norepinephrine and nitroprusside, in addition to other antihypertensive drugs, as needed. The predominant state was hypertension, expressed mainly when there is interference from the patient's position in bed. The highest pressure value recorded was 240x90 mmHg. Dysautonomy was also manifested by the absence of stools, excessive sweating and muscle spasms. Heart rate remains stable and within normal limits. From the thirtieth day of hospitalization onwards, there was an evolution with progressive improvement and restoration of homeostasis. He was discharged after 59 days of hospitalization, without sequelae. The most reasonable explanation for the case is the increase in peripheral vascular resistance, due to the action of angiotensin II, associated with the suppression of the parasympathetic system, which also explains the incompetence of the baroreflex to compensate the heart rate. Additionally, the patient was using carvedilol. This case emphasizes the importance of tools that early identify dysautonomy, prepare the team. Vagal stimulation can be an effective therapeutic option, but further studies are needed

Disautonomía en otorrinolaringología. Reporte de caso y revisión de la literatura / Dysautonomia in Otorhinolaryngology. Case report and literature review

Introducción: la disautonomía primaria no degenerativa es una patología con respuestas poco precisas desde los centros reguladores centrales hacia el sistema nervioso autónomo; es frecuente en la población, ya que se calcula que la presentan 70 millones de personas a nivel mundial. No se aborda desde un punto de vista integral debido al desconocimiento y la sintomatología tan variada que abarca. Caso clínico: en este artículo, también se presenta y discute un caso clínico con diagnóstico original de migraña vestibular, con evolución tórpida de varios años, que fue estudiado nuevamente y diagnosticado como disautonomía; se inició tratamiento, lo cual resultó en una disminución de la sintomatología en un 70 % a los tres meses de tratamiento. Metodología: se realizó una revisión narrativa de la literatura en motores de búsqueda especializados en internet y bibliotecas de educación superior, con palabras derivadas del Medical Subject Headings (MeSH) de la National Library of Medicine, y se restringió la inclusión a material de nuestro tema principal en inglés y español y con los siguientes criterios de exclusión: literatura en otros idiomas, sin relación con la patología, sin sustento científico y no disponibles electrónica o físicamente. Conclusión: nos encontramos ante la ausencia de conceptualización, guías de manejo y reportes de caso para esta patología. Recalcamos la importancia del conocimiento y difusión de la enfermedad para ampliar horizontes diagnósticos, ya que quizá, dentro del campo de la otorrinolaringología, pacientes con diagnósticos atípicos o de difícil control correspondan realmente a esta patología.

Introduction: Non-degenerative primary dysautonomia is a pathology with imprecise responses from the central regulatory centers to the autonomic nervous system, frequent in the population, since it is estimated that 70 million people present it worldwide. It is not approached from an integral point of view, due to ignorance and due to the varied symptoms, that it encompasses. Clinical case: A clinical case is also presented and discussed, with an original diagnosis of Vestibular Migraine with torpid evolution of several years of evolution, which was studied again and diagnosed as dysautonomia, initiating treatment, with a reduction of symptoms by 70% at three months of treatment. Methodology: A narrative review of the literature was carried out, in specialized search engines on the internet and higher education libraries, with words derived from the Medical Subject Headings (MeSH) of the National Library of Medicine and the inclusion of material on our main topic was restricted in english and spanish and with the following exclusion criteria: literature in other languages, unrelated to the pathology, without scientific support, not available electronically or physically. Conclusion: We are faced with the absence of conceptualization, management guides and case reports for this pathology. We emphasize the importance of knowledge and dissemination of the disease to broaden diagnostic horizons, since perhaps within the field of otorhinolaryngology, patients with atypical or difficult-to-control diagnoses really correspond to this pathology.

Evaluation of the Autonomic Nervous System in Chronic Chagasic Cardiopathy: A Systematic Review of the Literature

Abstract Background The importance of regional sympathetic denervation in the pathophysiology and prognosis of Chagas disease has been recognized. Objective To conduct a review of studies that have assessed dysautonomia in chronic Chagas heart disease. Methods The search was performed on the Medline, Pubmed, Lilacs and SciELO databases. The inclusion criteria were: original articles published in full; studies on individuals with Chagas disease, that used diagnostic methods for chagasic cardiomyopathy, and had clear inclusion and exclusion criteria. Duplicate studies, studies including children (0 to 10 years old), studies involving animals, in vitro experiments, case reports, editorials, theses, and dissertations were excluded. Results A total of 281 articles were retrieved, and 10 met the inclusion criteria and were analyzed. There was great heterogeneity as to the technique for assessing dysautonomia, groups of patients studied and classification of Chagas disease. The methods used for studying the autonomic system was immunohistochemistry (n=1), Valsalva and tilt-test (n=1), scintigraphy (n=6) and Holter monitoring (n=2). The results indicated dysautonomia in the indeterminate, digestive and cardiac forms of Chagas disease, and sympathetic denervation in the indeterminate and cardiac forms of the disease. There was agreement between areas of denervation, hypoperfusion and fibrosis, but areas of denervation were larger than those of hypoperfusion. The frequency of denervation and its extension increased from the indeterminate to the cardiac form. There was an association between extension of denervation and previous history of malignant ventricular arrhythmia. Conclusions The evidence presented in this review supports that an early diagnosis of autonomic denervation in chronic Chagas' disease allows the identification of patients with an increased risk of sudden death. Int J Cardiovasc Sci. 2020; [online].ahead print, PP.0-0

Vitamin D, vitamin D binding protein, vitamin D receptor levels and cardiac dysautonomia in patients with multiple sclerosis: a cross-sectional study / Vitamina D, proteína de ligação à vitamina D, níveis de receptores de vitamina D e disautonomia cardíaca em pacientes com esclerose múltipla: um estudo transversal

ABSTRACT Vitamin D is a pleiotropic steroid hormone that modulates the autonomic balance. Its deficiency has been described as an environmental risk factor for multiple sclerosis (MS). The aim of this study was to investigate the serum levels of vitamin D, vitamin D binding protein (VDBP) and vitamin D receptors (VDR) and to evaluate cardiac dysautonomia in MS patients due to bidirectional interaction between vitamin D and the autonomic nervous system. Methods: The current cross-sectional study was conducted on 26 patients with relapsing-remitting MS and on 24 healthy controls. Twenty-four-hour ambulatory blood pressure variability (BPV) was calculated and the participants were evaluated for orthostatic hypotension and supine hypertension. Serum levels of vitamin D, VDBP and VDR were measured. Results: The mean serum vitamin D level was significantly lower in MS patients than in controls (p = 0.044); however there was no significant difference in terms of VDR and VDBP levels between the groups. Supine hypertension and orthostatic hypotension were significant and the 24-hour systolic BPV was significantly decreased in patients with MS (p < 0.05) compared to controls. No correlation was found between vitamin D, VDBP and VDR with supine hypertension, orthostatic hypotension and systolic BPV values (p > 0.05). Also, there was a negative correlation between VDBP and the EDSS (p = 0.039, r = −0.406). Conclusion: There was no correlation between orthostatic hypotension, supine hypertension and systolic BPV values and serum vitamin D, VDBP and VDR in MS patients. Future prospective studies with large number of patients may help us to better understand the relationship between vitamin D and the autonomic nervous system.

RESUMO A vitamina D é um hormônio esteroide pleiotrópico que modula o equilíbrio autonômico. Sua deficiência tem sido descrita como fator de risco ambiental para esclerose múltipla (EM). O objetivo deste estudo foi investigar os níveis séricos de vitamina D, proteína de ligação à vitamina D (VDBP) e receptor de vitamina D (VDR) e avaliar a disautonomia cardíaca em pacientes com EM devida à interação bidirecional entre vitamina D e sistema nervoso autônomo. Métodos: O presente estudo transversal foi realizado em 26 pacientes com EM remitente-recorrente e em 24 controles saudáveis. A variabilidade da pressão arterial ambulatorial (BPV) por 24 horas foi calculada e os participantes foram avaliados quanto à hipotensão ortostática e hipertensão supina. Os níveis séricos de vitamina D, VDBP e VDR foram medidos. Resultados: O nível sérico médio de vitamina D foi significativamente menor nos pacientes com EM do que nos controles (p = 0,044); no entanto, não houve diferença significativa em termos de níveis de VDR e VDBP entre os grupos. Hipertensão supina e hipotensão ortostática foram significativas e a BPV sistólica de 24 horas diminuiu significativamente em pacientes com EM (p < 0,05) em comparação aos controles. Não foi encontrada correlação entre vitamina D, VDBP e VDR com hipertensão supina, hipotensão ortostática e BPV sistólica (p > 0,05). Também houve correlação negativa entre VDBP e EDSS (p = 0,039, r = −0,406). Conclusão: Não houve correlação entre hipotensão ortostática, hipertensão supina e valores de BPV sistólica e vitamina D sérica, VDBP e VDR em pacientes com EM. Futuros estudos prospectivos com grande número de pacientes podem nos ajudar a entender melhor a relação entre vitamina D e sistema nervoso autônomo.

Características de la neuropatía autonómica cardiovascular en pacientes con Diabetes Mellitus tipo 2 / Cardiovascular autonomic neuropathy characteristics in patients with type 2 Diabetes Mellitus

La neuropatía autonómica cardiovascular en el paciente diabético (NACD) se define como una complicación crónica de la diabetes de tipo microangiopática, que se expresa en disautonomía del sistema cardiovascular. Se realizó un estudio descriptivo transversal cuyo objetivo fue la caracterización epidemiológica y clínica de los pacientes diabéticos tipo 2 con NACD que acudieron a la Unidad de Diabetes del CCR-ASCARDIO de la ciudad de Barquisimeto, estado Lara durante el mes de diciembre del año 2014. La muestra estuvo conformada por 68 individuos diabéticos tipo 2, con una prevalencia de NACD según la prueba de RV del 63,2%, por ortostatismo de 45,6% y por taquicardia sinusal inapropiada de 8,8%. Hubo un predominio del género femenino y un mayor porcentaje de pacientes con NACD no tenían control metabólico de la diabetes y tenían más de 5 años con la enfermedad. En conclusión, se sugiere el diagnóstico precoz de la DM así como la identificación temprana de síntomas que sugieran el desarrollo de disautonomía por deterioro neuropático del sistema cardiovascular en estos pacientes(AU)

Cardiovascular autonomic neuropathy in diabetic patients (CAN) is defined as a chronic complication of diabetes (DM) of the microangiopathic type, which is expressed as dysautonomia of the cardiovascular system. We performed an observational descriptive cross-sectional study to characterize clinically and epidemiologically type 2 diabetic patients with CAN that were attended in December 2014 at the Unidad de Diabetes of CCR-ASCARDIO in Barquisimeto, Lara state. The sample consisted of 68 type 2 diabetic patients with a prevalence of CAN according to the RINES VALCARDI (RV) test of 63.2%, by orthostatism of 45.6% and by the presence of inappropriate sinus tachycardia of 8.8%. In patients with CAN, there was female predominance and a greater percentage of patients had more than five years with diabetes and no metabolic control their disease. In conclusion, it is important to make an early diagnosis of diabetes and clearly identify symptoms that suggest dysautonomia in these patients(AU)

Restless Legs Syndrome in Parkinson's Disease Patients: Clinical Features Including Motor and Nonmotor Symptoms

BACKGROUND AND PURPOSE: We investigated the frequency and clinical features of restless legs syndrome (RLS) in patients with Parkinson's disease (PD). METHODS: This study included 74 PD patients. RLS was diagnosed in face-to-face assessments of all of the subjects based on diagnostic criteria of the International Restless Legs Syndrome Study Group revised in 2003. We analyzed the clinical features of PD patients with and without RLS and compared the data to idiopathic RLS. RESULTS: The frequency of RLS in the cohort was 21.6% (n=16). Two (12.5%) of the patients with RLS were not treated with dopaminergic drugs, while 14 (24.1%) of the 58 patients without RLS received treatment with dopaminergic drugs. Anxiety, depression, and quality of life (QoL) were significantly worst in patients with RLS. PD patients with RLS had significantly worse sleep quality (p=0.003) and worse scores on the cardiovascular subscale of the Scales for Outcomes in Parkinson's Disease for Autonomic Symptoms (p=0.031) compared to those without RLS. In the group of PD patients with RLS, RLS preceding PD onset was related to a lower Hoehn and Yahr stage. CONCLUSIONS: We found that the frequency of RLS in the present patients with PD was higher than that in our previous study of a general population of RLS subjects. Compared to the PD patients without RLS, the present PD patients with RLS suffered from worse sleep quality and QoL, depression, anxiety, and autonomic disturbances, especially those with cardiovascular problems.

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 / 고신대학교의과대학학술지

Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis, and progressive respiratory insufficiency. We report the case of a 6-year-old girl diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffman disease) who has been treated at home with non-invasive ventilation (assist-control mode with a back-up respiratory rate of 26 per minute). She presented with an atrioventricular block and atrial fibrillation, as well as paroxysmal fluctuation of blood pressure and heart rate indicating autonomic dysfunction. Although it is known that patients with spinal muscular atrophy type 1 do not generally demonstrate cardiac problems, it can be concluded based on findings in our case that long-term survivors with spinal muscular atrophy type 1 may develop cardiac rhythm disturbances. We therefore recommend that the possibility of cardiac complications and autonomic dysfunction should be borne in mind in the management of such patients.

Disautonomía y enfermedad de chagas / Dysautonomia and Chagasdisease

Resumen El "síndrome disautonómico" es un componente importante de la miocardiopatía chagásica. Se presenta una breve revi sión de su patogenia, en la cual interviene la interacción directa del parásito, inflamación y autoinmunidad, determinadas a su vez por la genética del parásito y del huésped; así como de sus principales manifestaciones clínicas.

Abstract Dysautonomia and Chagas disease The "dysautonomic syndrome" is an important component of chagasic myocardiopathy. A brief review of its pathogenesis is presented, which involves the direct interaction of the parasite, inflammation and autoimmunity, determined in turn by the genetics of the parasite and the host; as well as its main clinical manifestations.

Sympathetic Dysautonomia in Heart Failure by 123I-MIBG: comparison between Chagasic, non-Chagasic and heart transplant patients / Disautonomia Simpática na Insuficiência Cardíaca pela 123I-MIBG: Comparação entre Pacientes Chagásicos, não-Chagásicos e Transplantados Cardíacos

Abstract Background: Heart failure (HF) is a severe public health problem because of its high morbidity and mortality and elevated costs, thus requiring better understanding of its course. In its complex and multifactorial pathogenesis, sympathetic hyperactivity plays a relevant role. Considering that sympathetic dysfunction is already present in the initial phases of chronic Chagas cardiomyopathy (CCC) and frequently associated with a worse prognosis, we assumed it could be more severe in CCC than in cardiomyopathies of other etiologies (non-CCC). Objectives: To assess the cardiac sympathetic dysfunction 123I-MIBG) of HF, comparing individuals with CCC to those with non-CCC, using heart transplant (HT) patients as denervated heart parameters. Methods: We assessed 76 patients with functional class II-VI HF, being 25 CCC (17 men), 25 non-CCC (14 men) and 26 HT (20 men), by use of cardiac 123I-metaiodobenzylguanidine 123I-MIBG) scintigraphy, estimating the early and late heart-to-mediastinum ratio (HMR) of 123I-MIBG uptake and cardiac washout (WO%). The 5% significance level was adopted in the statistical analysis. Results: The early and late HMR values were 1.73 ± 0.24 and 1.58 ± 0.27, respectively, in CCC, and 1.62 ± 0.21 and 1.44 ± 0.16 in non-CCC (p = NS), being, however, higher in HT patients (p < 0.001). The WO% values were 41.65 ± 21.4 (CCC), 47.37 ± 14.19% (non-CCC) and 43.29 ± 23.02 (HT), p = 0.057. The late HMR values showed a positive weak correlation with left ventricular ejection fraction (LVEF) in CCC and non-CCC (r = 0.42 and p = 0.045; and r = 0.49 and p = 0.015, respectively). Conclusion: Sympathetic hyperactivity 123I-MIBG) was evidenced in patients with class II-IV HF, LVEF < 45%, independently of the HF etiology, as compared to HT patients.

Resumo Fundamentos: A insuficiência cardíaca (IC) representa um grave problema de saúde pública pela alta morbimortalidade e custos envolvidos, exigindo uma melhor compreensão de sua evolução. Em sua patogênese, complexa e multifatorial, a hiperatividade simpática ocupa relevante papel. Considerando que a disfunção simpática está presente já nas fases iniciais da cardiopatia chagásica crônica (CCC), frequentemente associando-se a um pior prognóstico, supomos que pudesse ser mais grave na CCC que nas demais etiologias (não-CCC). Objetivos: Avaliar a disfunção simpática cardíaca (123I-MIBG) da IC, comparando-se os portadores de CCC aos não-CCC, utilizando os pacientes transplantados cardíacos (TC) como parâmetro de coração desnervado. Métodos: Estudamos 76 pacientes com IC classe funcional II-VI, sendo 25 CCC (17 homens), 25 não-CCC (14 homens) e 26 TC (20 homens), pela cintilografia cardíaca (123I-MIBG), estimando-se a captação (HMR) precoce e tardia e o washout cardíaco (Wc%). Nas análises estatísticas, o nível de significância foi de 5%. Resultados: Os valores da HMR precoce e da tardia foram 1,73 ± 0,24 e 1,58 ± 0,27, respectivamente, na CCC, e 1,62 ± 0,21 e 1,44 ± 0,16 na não-CCC (p = NS), sendo, porém, mais elevados nos TC (p < 0,001). Os valores de Wc% foram 41,65 ± 21,4 (CCC), 47,37 ± 14,19% (não-CCC) e 43,29 ± 23,02 (TC), p = 0,057. Os valores de HMR tardia apresentaram correlação positiva fraca com a fração de ejeção de ventrículo esquerdo (FEVE) na CCC e na não-CCC (r = 0,42 e p = 0,045; e r = 0,49 e p = 0,015, respectivamente). Conclusão: Evidenciou-se a presença de hiperatividade simpática (123I-MIBG) em pacientes com IC classe II-IV, FEVE < 45%, independentemente da etiologia da IC, quando comparados aos pacientes TC.

Medullary Infarction Presenting as Sudden Cardiac Arrest: Report of Two Cases and Review of the Literature

The causes of sudden death after medullary infarction involve arrhythmia, central respiratory failure, and dysautonomia. Sudden cardiac arrest in a medullary infarction is uncommon. Most of these cases experienced sudden cardiopulmonary arrest within 2 weeks from stroke onset as the extent of lesion increased. Here, we report two cases of medullary infarction presenting as sudden cardiac arrest. These cases indicate that medullary infarction could be one of the causes of sudden cardiac arrest.

Actualización en enfermedad con cuerpos de Lewy / Update in Lewy body disease

La enfermedad con cuerpos de Lewy incluye 2 entidades que podrían ser consideradas variantes clínicas de una misma patología: la demencia con cuerpos de Lewy y la demencia en enfermedad de Parkinson. Con la finalidad de describir correctamente lo que sucede en la evolución de la enfermedad se divide el cuadro en etapa prodrómica y de demencia propiamente dicha. La primera está clínicamente representada por aquel período en el cual, si bien el paciente exhibe algunos signos y síntomas propios de la enfermedad, no reúne criterios de demencia. A pesar de ser difícil de definir y por carecerse todavía de contundentes datos clínicos y biomarcadores, se caracteriza principalmente por deterioro leve selectivo en función atencional ­ visuoespacial, trastorno del sueño REM y disautonomía‒. La segunda etapa está claramente caracterizada en los criterios de consenso del año 2005. Recientemente hemos publicado la validación de un instrumento llamado ALBA Screening Instrument, que permite diagnosticar con alta sensibilidad y especificidad la enfermedad aun en etapas tempranas y diferenciarla de otras patologías semejantes. La tomografía por emisión de positrones (PET) para transportador de dopamina es el procedimiento de referencia (gold standard) del diagnóstico. El tratamiento sintomático con anticolinesterásicos y neurolépticos atípicos favorece una buena evolución de la enfermedad y es fundamental tener en cuenta evitar medicamentos que pueden dañar gravemente a los pacientes como los anticolinérgicos y antipsicóticos típicos. Los avances en el diagnóstico y la difusión del impacto de esta enfermedad en la población contribuirán a generar mayores esfuerzos de investigación para hallar un tratamiento eficaz, preventivo o curativo o de ambas características. (AU)

Lewy body disease includes 2 entities that could be considered clinical variants of the same pathology: Dementia with Lewy bodies and Parkinson's disease Dementia. Two stages of the disease are described in this review, a prodromal stage and one of explicit dementia. The first one is clinically represented by that period in which, the patient exhibits some typical features of the disease, but not dementia criteria. Despite being difficult to define the prodromal stage and that strong clinical data and biomarkers are still lacking, there is evidence to characterize it mainly by mild selective impairment in attention and visuo-spatial function, REM sleep disorder and dysautonomia. The second stage is clearly characterized in the known consensus criteria of 2005. We have recently published the validation of an instrument called ALBA Screening Instrument which showed a high sensitivity and specificity for diagnosis of the disease even in the early stages. It´s useful to differentiate the disease from other similar pathologies. Positron Emission Tomography for dopamine transporter is the gold standard of diagnosis in life. Symptomatic treatment with anticholinesterases and atypical neuroleptics help patients in their evolution of the disease. Anticholinergics and typical antipsychotics are agents to avoid in the treatmen of the disease because can severely damage patients. Future advances in the diagnosis and dissemination of the knowledge of the disease will contribute to generate greater research efforts to find an effective preventive and / or curative treatment. (AU)

Porfiria aguda. Dilema diagnóstico y manifestaciones neuroendocrinas / Acute porphyria. Diagnostic dilemma and neuroendocrine manifestations

Resumen La porfiria intermitente aguda (PIA) es una enfermedad poco frecuente, considerada huérfana, que se caracteriza por crisis neuroviscerales, el dolor abdominal siendo su síntoma más común, acompañado en muchos casos, de síntomas inespecíficos, haciendo difícil su diagnóstico temprano. El retraso en el diagnóstico y tratamiento de esta entidad puede resultar catastrófico o incluso fatal, provocando daño neurológico a largo plazo o permanente. Reportamos el caso de un adulto joven que consulta en varias ocasiones por dolor abdominal inespecífico y 24 horas después de la admisión desarrolla inestabilidad autonómica simpática con cifras tensionales elevadas y taquicardia. Posteriormente debilidad muscular que evoluciona hasta cuadriplejia e hiponatremia con criterios para secreción inadecuada de hormona antidiurética (SIADH). Estos datos, junto con coloración rojiza en orina, llevan al diagnóstico de porfiria. Presentamos las características clínicas y bioquímicas enfatizando la importancia de incluir la porfiria dentro de los diagnósticos diferenciales de dolor abdominal y disautonomia de causa indeterminada. (Acta Med Colomb 2017; 42: 140-143).

Abstract Acute intermittent porphyria (AIP) is an infrequent and considered orphan disease, characterized by neurovisceral crisis, being abdominal pain the most common symptom, accompanied in many cases by non-specific symptoms, making early diagnosis difficult. The delay in the diagnosis and treatment of this entity can be catastrophic or even fatal, causing long-term or permanent neurological damage. The case of a young adult who attends medical consultation several times for non-specific abdominal pain and 24 hours after admission develops sympathetic autonomic instability with elevated blood pressure and tachycardia is presented. He subsequently presents muscular weakness that evolves to quadriplegia and hyponatremia with criteria for inadequate secretion of antidiuretic hormone (SIADH). These data together with reddish urine staining lead to the diagnosis of porphyria. The clinical and biochemical characteristics emphasizing the importance of including porphyria within the differential diagnoses of abdominal pain and dysautonomia of indeterminate cause are presented. (Acta Med Colomb 2017; 42: 140-143).

Descenso del 10% del peso corporal en pacientes con síndrome metabólico: impacto sobre variables cardiometabólicas y función autonómica cardíaca / Impact of 10% of body weight lost on cardiometabolic variables and autonomic neuropathy in patientes with metabolic syndrome

El síndrome metabólico (SM) es una de las entidades que más atención ha recibido en la literatura médica en los últimos años. Hace referencia a un conjunto de factores de riesgo específicos para enfermedad cardiovascular, cuya fisiopatología se relaciona con el estado de insulinorresistencia. El término SM se ha posicionado en la literatura médica y ha sido definido e institucionalizado,permitiendo al equipo de salud utilizar las distintas herramientas disponibles para manejarlo en su conjunto o en sus componentes por separado. Dentro de la diabetes mellitus (DM), la neuropatía autonómica cardiovascular (NACV) es el tipo de afectación neuropática autonómica más estudiada y la de mayor implicancia clínica. Habitualmente es asintomática y su diagnóstico requiere pruebas sensibles y específicas. El análisis de estas alteraciones puede evidenciarse a través de la batería de los test descritos por Ewing hace más de 30 años. Tomando estos conceptos en consideración, se llevó a cabo el presente estudio cuyo principal objetivo fue determinar el impacto del descenso del 10% del peso corporal inicial sobre variables cardiometabólicas y sobre la actividad electrofisiológica cardíaca en pacientes con SM

Brain Hypometabolism in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome / 대한평형의학회지

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a slowing progressive ataxic disorder characterized by bilateral vestibulopathy, cerebellar ataxia and somatosensory impairment. Autonomic dysfunction is recently considered as a core feature in CANVAS in addition to these symptoms. In most cases, patients with CANVAS show cerebellar atrophy in brain imaging, but some cases show minimal or no atrophy of cerebellum. Brain (18F)-fluoro-2-deoxy-D-glucose positron emission tomography (¹⁸F-FDG PET) study can be a complimentary tool to diagnosis CANVAS in cases of no structural abnormality such as cerebellar atrophy. Hereby, we present a case of CANVAS with minimal atrophy of cerebellum but showing a prominent hypometabolism in cerebellum, thalamus and posterior cingulate cortex in ¹⁸F-FDG PET.

Autonomic thermoregulatory dysfunction in neurofibromatosis type 1 / Disfunção autonômica termorregulatória na neurofibromatose do tipo 1

ABSTRACT Objective Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). Methods The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16–57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG). Sweating was induced by 1) pilocarpine 1% iontophoresis (PILO); and 2) by passive heating (HEAT) via the lower third of the legs being immersed in 42°C water for one hour. Previously established eccrine sweat function and VTR protocols were used. Results The NF1 group showed: a) lower sweat rate than the CG group during PILO; b) a smaller diastolic pressure decrease; and c) higher tympanic temperatures than controls during HEAT (p < 0.05). Conclusion Reduced sweating and vascular thermoregulatory responses suggest autonomic dysfunction in NF1 individuals.

RESUMO Objetivo Neurofibromatose do tipo 1 (NF1) causa problemas neurais e cutâneos e diminuição da capacidade física. O aumento da temperatura interna durante exercício e exposição ao calor precisa ser compensada pela função sudorípara écrina (FSE) e aquecimento cutâneo por vasodilatação (RVT). Suspeitou-se clinicamente que a NF1 poderia prejudicar a FSE e a RVT. Métodos A FSE e RVT de 25 voluntários com NF1 (14 homens, 11 mulheres; 16–57 anos) e de 23 sem-NF1, emparelhados por sexo, idade, estatura e peso corporal, foram medidas com protocolos validados anteriormente. A sudorese foi induzida por iontoforese com pilocarpina (PILO) e aquecimento passivo por imersão das pernas em água a 42°C durante uma hora (HEAT). Resultados O grupo NF1 apresentou menor taxa de sudorese na situação PILO, menor redução da pressão diastólica e maior temperatura timpânica na situação HEAT (p < 0.05). Conclusão As respostas sudorípara e vascular reduzidas sugerem disfunção autonômica nas pessoas com NF1.

Syndrome in question

Abstract Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years.

Recognizing the link between ovarian teratoma and autoimmune encephalitis: A case report of ovarian teratoma-associated anti-N-methyl-D-aspartate receptor encephalitis / Philippine Journal of Obstetrics and Gynecology

A 36-year old nulligravid who initially presented with a one-week history of flu-like symptoms suddenly developed behavioral changes, agitation and irritability. Diagnostic tests were done and empiric treatment for viral encephalitis were initiated. Symptoms persisted with progressive unresponsiveness and episodes of seizure. Hypoventilation from dysautonomia required mechanical ventilation. Elevated levels of immunoglobulin on cerebrospinal fluid (CSF) and deterioration despite treatment raised suspicion for an autoimmune encephalitis. A referral to a gynecologist to rule out an ovarian focus was done. Ultrasound and biopsy established the presence of ovarian teratoma. The diagnosis of anti-N-methy-D-Aspartate receptor encephalitis was confirmed when the patient's serum and CSF tested positive for these antibodies. In addition, her CSF was also positive for anti-alpha-amino-3-hydroxy-5-methylisoxazole-4 propionic acid receptor (Anti-AMPar) antibodies. In the Philippines, this was the second documented case of Anti-NMDar encephalitis associated with ovarian teratoma and the first to have antibodies present causing encephalitis.