Postural dysautonomia in response to head-up tilt in a military pilot aspirant: Aeromedical considerations

Intolerance to orthostasis encompasses a group of responses on assumption of upright posture. One such response is postural dysautonomia. One of the types of postural dysautonomia is postural orthostatic tachycardia syndrome, which is characterised by an increase in heart rate of more than 30 bpm without hypotension along with other features of dysautonomia on attaining an erect posture, either actively or passively. This paper brings out a case of postural dysautonomia in a pilot aspirant in response to Head-up tilt (HUT) test. A 23-year-old female military pilot aspirant reported for evaluation of Syncope and Air Sickness. She gave a history of solitary episode of loss of consciousness on ground while preparing for an early morning sortie. She was diagnosed with a case of neurocardiogenic syncope and was put back to flying training. Subsequently, after about 2 months, she developed features of air sickness while flying and also could not tolerate preliminary motion sickness desensitisation at her unit. A thorough medical evaluation failed to reveal any neurocardiological abnormality. Before commencing the air sickness desensitisation protocol at the Institute of Aerospace Medicine, she was subjected to HUT during which she developed signs and symptoms suggestive of postural dysautonomia. A test retest assessment with repeat HUT and passive standing test revealed similar responses.

Disautonomía gastrointestinal como manifestación de mielitis transversa: Reporte de caso

La mielitis transversa, de origen inflamatorio, es una afectación rara de la médula espinal que afecta a uno o varios niveles. La etiología incluye esclerosis múltiple, causas infecciosas o trastornos del espectro de la neuromielitis óptica. Se presenta de forma aguda, con síntomas motores, sensoriales y/o disautonómicos como los gastrointestinales y urinarios. El diagnóstico se basa en la sintomatología, evolución y se confirma por punción lumbar, resonancia magnética nuclear y analítica sanguínea completa. Se presenta el caso clínico de una paciente con mielitis transversa, que debutó con sintomatología gastrointestinal, síntomas motores y confirmación diagnóstica con resonancia magnética nuclear.

Inflammatory transverse myelitis is a rare condition that affects one or more levels of the spinal cord. Its etiology includes multiple sclerosis, infectious causes, or disorders within the spectrum of neuromyelitis optica. It presents acutely with motor, sensory, and/or dysautonomic symptoms, such as those related to the gastrointestinal and urinary systems. Diagnosis is based on symptomatology, evolution, and is confirmed by lumbar puncture, magnetic resonance imaging, and complete blood analysis. We present a clinical case of a patient with transverse myelitis who presented with gastrointestinal symptoms, motor symptoms, and was diagnosed with magnetic resonance imaging.

Pain abdomen and cardiac arrest as peculiar presenting symptoms in AIDP- AMSAN variety

AIDP (Acute Inflammatory Demyelinating Polyneuropathy) is a heterogenous condition encompassing several variants. It is a post infectious neurological disorder with an autoimmune pathogenesis with molecular mimicry mechanism. They present commonly with symmetrical ascending type paralysis and absent or diminished deep tendon reflexes. Cranial nerve palsies may or may not be present. The diagnosis is based on the clinical signs and symptoms, nerve conduction studies and cerebrospinal fluid analysis. We herewith report a rare case of AIDP, where the patient came walking to the emergency room with pain abdomen as the only complaint and had no neurological deficits at the time of presentation, hours later, the patient went into cardiac arrest, the cause of which was later thought to be dysautonomia and respiratory failure. The next day, patient developed motor weakness and multiple cranial nerve palsies which is an overlap of AMSAN and Acute Ophthalmoplegia. It is extremely uncommon to present with pain abdomen and cardiac arrest as presenting features in AIDP, AMSAN (Acute Motor Sensory Axonal Neuropathy) variety.

Anti-NMDA-receptor encephalitis in Filipino adults: Case series and outcomes in a tertiary government hospital in the Philippines

INTRODUCTION@#We performed a case series of all five (5) confirmed adult Filipino cases of Anti-N-Methyl-D-Aspartate receptor (anti-NMDA-R) encephalitis in a tertiary government hospital in the Philippines admitted in the past three years. Two cases were identified with unique features: (1) a 23-year old female who presented with combined refractory seizures and persistent chorea and orofacial dyskinesias; and (2) a 22-year old male who presented with refractory epilepsia partialis continuua. The rest of the patients were hereby presented.@*BACKGROUND@#In the past years, anti-NMDA-R encephalitis has been considered a diagnosis of exclusion in lieu of other infectious causes of encephalitis. It is rare and an emerging disease with an incidence estimated at approximately 2-3 cases per million. Recent literature recorded severe cases of anti-NMDA-R encephalitis that presented as intractable first onset seizures, combined with hyperkinetic movement disorders, acute psychosis without a premorbid condition, and dysautonomia. @*OBJECTIVES@#To present the clinicodemographic profile and to discuss the management and outcomes of patients with anti-NMDAR encephalitis in a tertiary hospital in the Philippines.@*RESULTS@#Here, we report five confirmed cases of anti-NMDA-R encephalitis admitted in 2019-2021. The mean age is 23 years old, with 4:1 female to male ratio with a median length of hospitalization of 58 days. All patients presented with acute psychiatric symptoms without premorbid condition, focal and generalized seizures, decreased consciousness, dyskinesias, and autonomic instability. Four patients needed airway support for central hypoventilation, one had first onset seizure that developed into refractory epilepsia partialis continuua, one had persistent chorea and orofacial dyskinesia. Imaging studies of the brain included contrast-enhanced CT Scan and MRI with unremarkable findings. No female patients had an ovarian teratoma as revealed in the whole abdominal ultrasound. All CSF analysis for anti-NMDA-receptor was done in the same laboratory outside the hospital which revealed positive for NMDA-receptor antibodies, while CSF lymphocytic pleocytosis was only seen in 1/5 and protein elevation in 4/5. All of the patients underwent electroencephalogram (EEG) studies which revealed diffuse delta-theta slowing without epileptiform discharges. The patient who had persistent chorea and orofacial dyskinesias showed extreme delta brush, while one had normal EEG findings. They all received high-dose steroid and intravenous Immunoglobulin (IVIg); three patients were able to undergo Rituximab infusion. Only one female patient had mild deficits, one female was discharged fully functional and ambulatory from being weaned off from the mechanical ventilator, one female had aborted cardiac arrest and was discharged bedridden at GCS 10, and two died due to the other concomitant medical conditions. The Modified Rankin Scale (MRS) and Mini-mental Status Examination (MMSE) were used to assess the neurological and functional outcomes of our patients. @*CONCLUSION@#Anti-NMDA-R encephalitis is an emerging neurological disorder that warrants early identification as it impacts timeliness of management and long-term outcomes.

Infarto de miocardio en un modelo murino de hiperactividad simpática cardíaca / Myocardial Infarction in a Murine Model of Cardiac Sympathetic Hyperactivity

RESUMEN Introducción: La disautonomía es uno de los mecanismos fisiopatológicos principales que marcan el pronóstico de la cardiopatía isquémica y la insuficiencia cardíaca. La búsqueda de nuevas oportunidades de tratamiento requiere un conocimiento más profundo de los efectos cardíacos de la activación simpática crónica. Objetivos: Estudiar el tamaño del infarto y la función ventricular izquierda en un modelo de ratones transgénicos con sobreexpresión de la proteína Gs-α cardíaca en el contexto de la isquemia/reperfusión miocárdica y el infarto crónico. Material y métodos: Ratones transgénicos (TG) con sobreexpresión cardíaca de la subunidad alfa de la proteína Gs y sus respectivos controles wild-type (WT) fueron sometidos a isquemia miocárdica regional de 30 minutos con 2 horas de reperfusión (IR) o un infarto sin reperfusión (I) de 28 días de evolución. Se cuantificó el tamaño del infarto (TI) con cloruro de 2,3,5-trifeniltetrazolio y se evaluó la función ventricular izquierda mediante ecocardiografía y estudio hemodinámico. Cada grupo experimental estuvo acompañado por un grupo control (WT / TG Sham-2hrs y WT / TG Sham-28d). Resultados: No hubo diferencias significativas en el TI luego de la IR entre los ratones TG y WT (57,3 ± 3,5% vs 59,2±2,5%, respectivamente, p = NS). La frecuencia cardíaca en los ratones TG fue mayor durante el desarrollo de todo el protocolo. Con la infarto se observó un descenso de la fracción de eyección (WT: Sham-28d: 82 ± 2,4% vs I-28d: 44 ± 4% y TG: Sham-28d 89 ± 2% vs I-28d 42 ± 3%; p <0,05) conjuntamente con una disminución de la fracción de acortamiento (FA), y los cambios del área fraccional (CAF) del ventrículo izquierdo (VI) en comparación con los valores basales y sus respectivos grupos controles. Sin embargo, no se observaron diferencias entre los grupos WT y TG. Conclusión: la sobreexpresión de la proteína Gs-α cardíaca no aumenta el tamaño del infarto ni modifica la función ventricular izquierda en la isquemia/reperfusión aguda y en el infarto crónico en comparación con sus respectivos controles

ABSTRACT Background: Dysautonomia is one of the main pathophysiological mechanisms that define the prognosis of ischemic heart disease and heart failure. The search for new treatment opportunities requires a deeper understanding of the cardiac effects of chronic sympathetic activation. Objective: The aim of this study was to analyze left ventricular infarct size and ventricular function in a transgenic mouse model with overexpression of the cardiac Gs-α protein, in the context of myocardial ischemia/reperfusion and chronic infarction. Methods: Transgenic mice (TG) overexpressing cardiac Gs-α and its wild-type variant (WT) were subjected to 30-minute regional myocardial ischemia followed by 2-hour reperfusion (IR) or non- reperfusion (I) with a 28-day follow-up period. Infarct size (IS) was quantified using 2,3,5-triphenyltetrazolium chloride and left ventricular function was evaluated by echocardiography and LV catheterization. Each experimental group was accompanied by a control group (WT/TG Sham-2hrs and WT/TG Sham-28d). Results: There were no significant differences in IS after IR between TG and WT mice (57.3 ± 3.5% vs. 59.2 ± 2.5%, respectively, p = NS). The heart rate in TG mice was higher throughout the experiment. With ischemia, a in ejection fraction (WT: Sham-28d: 82 ± 2.4% vs. I-28d: 44 ± 4% and TG: Sham-28d 89 ± 2% vs. I-28d 42 ± 3%; p <0.05) was observed together with a decrease in shortening fraction and left ventricular fractional area changes compared with baseline values and their respective control (Sham) groups. However, no differences were observed between the WT and TG groups. Conclusions: Cardiac Gs-α protein overexpression does not increase infarct size or modify left ventricular function in acute ischemia / reperfusion and chronic infarction compared with their respective controls.

Manifestaciones cardiovasculares de la enfermedad de Parkinson: revisión de la literatura / Cardiovascular manifestations of Parkinson's disease: literature review

RESUMEN La enfermedad de Parkinson es la segunda enfermedad neurodegenerativa más prevalente en el mundo, y sus manifestaciones cardinales son la bradicinesia, el temblor y la rigidez. Aunque ha sido considerado un trastorno motor, actualmente se considera como un trastorno neurológico complejo que afecta diferentes sistemas, por lo que genera manifestaciones motoras y no motoras variadas, además de manifestaciones autonómicas sistémicas. Las manifestaciones cardiovasculares en pacientes con enfermedad de Parkinson son frecuentes y, además, provocan un gran impacto sobre la calidad de vida. A continuación, se realiza una revisión narrativa de las principales manifestaciones cardiovasculares de la enfermedad de Parkinson, y de sus mecanismos fisiopatológicos.

SUMMARY Parkinson's disease is the second most prevalent neurodegenerative disease in the world and is characterized by bradykinesia, tremor, rigidity, and postural instability. Although it has been considered as a motor system disease, it is currently considered as a complex neurological disease with different motor, non-motor, and autonomic manifestations. Cardiovascular manifestations in patients with Parkinson's disease are frequent and they have a great impact on quality of life. This article seeks to carry out a narrative review of the pathophysiological mechanisms and the main cardiovascular clinical manifestations in patients with Parkinson's disease.

Evaluación del disbalance autonómico en el paciente con serología positiva para enfermedad de Chagas: Score de diagnóstico y tratamiento

La enfermedad de Chagas es una enfermedad parasitaria (Trypanosoma cruzi), endémica en 21 países de América y que las migraciones la han dispersado en distintos continentes. Una de las manifestaciones más precoces de esta enfermedad son las alteraciones disautonómicas o disfunción autonómica. La severidad de este inadecuado funcionamiento del sistema nervioso autónomo resulta mensurable, de modo que la evolución y/o progresión de la enfermedad puede constatarse mediante la alteración de estudios clínicos y detección de anticuerpos antimuscarínicos. Estos anticuerpos están presentes en un 30% de los infectados y aparecen muy precozmente una vez instalada la parasitosis; además otros estudios, como la dispersión del QT (>65 mseg) y la variabilidad de la frecuencia cardíaca (<100 mseg) presentan valores anormales. La utilización de nuevos paradigmas de atención, diagnóstico y tratamientos adecuados son imprescindibles para prevenir el desarrollo de esta cardiopatía.

Chagas disease is a parasitic disease (Trypanosoma cruzi), endemic in 21 countries of America and that migrations have dispersed it in different continents. One of the earliest manifestations of this disease is dysautonomic alterations or autonomic dysfunction. The severity of this inadequate functioning of the autonomic nervous system is measurable, so that the evolution and/or progression of the disease can be verified by altering clinical studies and detecting antimuscarinic antibodies. These antibodies are present in 30% of those infected and appear very early once the parasitosis is installed; In addition, other studies, such as QT dispersion (> 65 ms) and heart rate variability (<100 ms) show abnormal values. The use of new paradigms of care, diagnosis and appropriate treatments are essential to prevent the development of this heart disease.

A doença de Chagas é uma doença parasitária (Trypanosoma cruzi), endêmica em 21 países da América e que as migrações a dispersaram em diferentes continentes. Uma das primeiras manifestações desta doença são as alterações disautonômicas ou disfunção autonômica. A gravidade desse funcionamento inadequado do sistema nervoso autônomo é mensurável, de modo que a evolução e/ou progressão da doença pode ser verificada alterando os estudos clínicos e detectando anticorpos antimuscarínicos. Esses anticorpos estão presentes em 30% dos infectados e aparecem muito cedo, uma vez instalada a parasitose; Além disso, outros estudos, como a dispersão do QT (> 65 mseg) e a variabilidade da freqüência cardíaca (<100 mseg), mostram valores anormais. A utilização de novos paradigmas de atendimento, diagnóstico e tratamentos adequados são essenciais para prevenir o desenvolvimento desta doença cardíaca.

Clinical study of neurological presentation of diabetes mellitus in a tertiary care hospital

Background: A wide range of commotions affecting the central and peripheral nervous systems, either directly or indirectly, may be observed in patients with diabetes mellitus. The spectrum of neurological complications among diabetes are quite varied.Methods: Authors conducted a Cross-sectional prospective observational study to study different neurological manifestations of diabetes mellitus. at NRI General Hospital, Chinakakani, Guntur District, Andhra Pradesh. The selected patients were studied in detail with history and physical examination. The investigations included Fasting Blood Sugar (FBS), Postprandial Blood Sugar (PPBS), Glycosylated Hemoglobin (HbA1C).Results: A total of 100 subjects were included in the final analysis. Majority of participants were aged between 46 to 65 years, and 55% of them were males. Only 13% of the participants had HBA1c value below 7.5 gm%. Out of 100 participants, 82% participants had diabetic peripheral neuropathy. A total of 6 subjects had cranial neuropathy, with 5% participants having 3rd nerve and one participant had 6th nerve. Involuntary movements (Chorea) was present in 4% of patients. Among the people with Seizures, 6% participants had Hyperglycemic, and 2% participants had Hypoglycemic seizures. Out of 100 participants, 7 participants had dysautonomia.Conclusions: Peripheral neuropathy was the most common neurological manifestation among the diabetic population. The other key neurological abnormalities include cranial nerve palsy, dysautonomia, seizures and Chorea. Clinicians need to be aware the entire spectrum of neurological abnormalities among patients with type 2 Diabetes.

Disfunción autonómica en la enfermedad de Parkinson: enfoque práctico / Autonomic dysfunction in Parkinson's disease: A practical approach

RESUMEN Los síntomas por disfunción autonómica son comunes en la enfermedad de Parkinson y están presentes en todas las fases de la enfermedad. Cubren una amplia variedad de síntomas, como manifestaciones gastrointestinales, urinarias, disfunción eréctil e hipotensión ortostática, entre otros, lo que genera discapacidad y deterioro en la calidad de vida. Afortunadamente, con intervenciones no farmacológicas y farmacológicas estos síntomas pueden mejorar sustancialmente, por lo que su evaluación resulta vital para el bienestar del paciente.

SUMMARY Symptoms due to autonomic dysfunction are common in Parkinson's Disease, being present in all phases of the disease. It covers a wide variety of symptoms including gastrointestinal, urinary, erectile dysfunction, and orthostatic hypotension among others, generating disability and deterioration in quality of life. Fortunately, with non-pharmacological and pharmacological interventions, these symptoms can improve substantially, making the evaluation of these symptoms vital for the patient's well-being.

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.

La prueba de inclinación (Tilt Test). 20 años de experiencia en el diagnóstico del Síncope neurocardiogénico Tilt Test: 20 years of experience in the diagnosis of the neurocardiogenic syncope / Tilt Test: 20 years of experience in the diagnosis of the neurocardiogenic syncope

Objetivo: Valorar los resultados de las pruebas de inclinación realizadas en un lapso de 2 décadas. Métodos: Este es un estudio observacional, descriptivo y retrospectivo. Se analizaron los resultados de las Pruebas de Inclinación (PI) realizadas entre 1997 y 2018 en forma consecutiva por una sola persona, inicialmente en el Hospital Clínica Bíblica, posteriormente en el Instituto del Corazón y finalmente en los últimos 17 años en el Centro Cardiológico Integral. Resultados: Se realizaron un total de 2705 pruebas entre los años de 1997 y el 2018. El 60% fue del sexo femenino. Se hicieron 245 pruebas a menores de 20 años (17.3%), 996 pruebas a personas entre 20 y 40 años (36.8%), 969 pruebas a pa cientes entre los 40 y 60 años (35.8%) y a 271 pacientes mayores de 60 años (10%). Del total de la muestra evaluada, 2316 pacientes presentaron un resultado positivo para alguna de los diferentes tipos de respuesta en la prueba de inclinación, equivalente al 85.6%, mientras que 389 pacientes obtuvieron un resultado negativo (respuesta normal), equivalente al 14.4%. En la mayor cantidad de pacientes la positividad de la prueba se presentó en la fase II, 72.7% (1683 pacientes), el 27.3% (633 pacientes) la manifestaron en la fase I. Se presentó una respuesta vasodepresora en 1120 pacientes (48.2%), respuesta mixta en 727 pacientes (31.3%), respuesta cardioinhibidora en 304 casos (13.1%). Además, 69 pacientes pre sentaron una respuesta sugestiva (2.9%) y 104 pacientes tuvieron otros tipos de respuestas (4.5%). De estos últimos, 48% correspondió al síndrome de taquicardia postural ortostática (POTS), 17% a incompetencia cronotrópica, 19% a hipoten sión ortostática y 16% a disautonomía. Un total de 43 pacientes (1,6%) presentaron hipersensibilidad del seno carotídeo. Conclusiones: La PI en nuestro medio tiene una adecuada sensibilidad en el diagnóstico del Síncope Neurocardiológico (SNCG) en los diferentes grupos de edad, es un método seguro, fácil de realizar y accesible a la mayoría de las personas que la requieran

Tilt Test: 20 years of experience in the diagnosis of the neurocardiogenic syncope Objective: To evaluate the results of the tilt tests carried out during 2 decades. Methods: This is an observational, descriptive and retrospective study. We analyzed the results of the tilt tests conducted between 1997 and 2018 consecutively by a single person, initially at the "Hospital Clínica Bíblica", later at the "Instituto del Corazón" and finally in the last 17 years at the "Centro Cardiológico Integral". Results: A total of 2705 tests were carried out between 1997 and 2018. Sixty percent were female. There were 245 tests for people under 20 years (17.3%), 996 tests for people between 20 and 40 years (36.8%), 969 tests for patients between 40 and 60 years (35.8%) and 271 patients older than 60 years (10%). Of the total sample evaluated, 2316 patients presented a positive result for some of the different types of response in the tilt test, equivalent to 85.6%, while 389 patients obtained a negative result (normal response), equivalent to 14.4%. In the largest number of patients, the positivity of the test was presented in phase II, 72.7% (1683 patients), and 27.3% (633 patients) manifested it in phase I. A vasodepressant response was presented in 1120 patients (48.2%), mixed response in 727 patients (31.3%), cardioinhibitory response in 304 cases(13.1%). In addition, 69 patients presented a suggestive response (2.9%) and 104 patients had other types of responses (4.5%). Of the latter, 48% corresponded to orthostatic postural tachycardia syndrome (POTS), 17% to chronotropic incompetence, 19% to orthostatic hypotension and 16% to dysautonomia. A total of 43 patients (1.6%) presented hypersensitivity of the carotid sinus. Conclusions: Tilt test in our environment has an adequate sensitivity in the diagnosis of the neurocardiogenic syncope in different age groups, it is a safe method, easy to perform and accessible to most people who require it.

Síndrome de hiperatividade simpática paroxística causada por síndrome da embolia gordurosa / Paroxysmal sympathetic hyperactivity syndrome caused by fat embolism syndrome

RESUMO A hiperatividade simpática paroxística representa uma complicação incomum, com potencial risco à vida, de lesões cerebrais graves, mais comumente de origem traumática. Seu diagnóstico clínico se baseia na manifestação recorrente de taquicardia, hipertensão, diaforese, taquipneia e, às vezes, febre, além de posturas distônicas. Os episódios podem ser induzidos por estímulos ou ocorrer de forma espontânea. É comum que ocorra subdiagnóstico desta síndrome, e o retardamento de seu reconhecimento pode aumentar a morbidade e a incapacidade em longo prazo. Evitar os desencadeantes e a farmacoterapia podem ter muito sucesso no controle desta complicação. A síndrome da embolia gordurosa é uma complicação rara, mas grave, das fraturas de ossos longos. Sinais neurológicos, petéquias hemorrágicas e insuficiência respiratória aguda são as características que constituem seu quadro clínico. O termo "embolia gordurosa cerebral" é estabelecido quando predomina o envolvimento neurológico. O diagnóstico é clínico, porém achados específicos de neuroimagem podem confirmá-lo. As manifestações neurológicas incluem diferentes graus de alteração da consciência, défices focais ou convulsões. Seu tratamento é de suporte, porém são possíveis desfechos favoráveis, mesmo nos casos com apresentação grave. Relatamos dois casos de hiperatividade simpática paroxística após embolia gordurosa cerebral, uma associação muito incomum.

ABSTRACT Paroxysmal sympathetic hyperactivity represents an uncommon and potentially life-threatening complication of severe brain injuries, which are most commonly traumatic. This syndrome is a clinical diagnosis based on the recurrent occurrence of tachycardia, hypertension, diaphoresis, tachypnea, and occasionally high fever and dystonic postures. The episodes may be induced by stimulation or may occur spontaneously. Underdiagnosis is common, and delayed recognition may increase morbidity and long-term disability. Trigger avoidance and pharmacological therapy can be very successful in controlling this complication. Fat embolism syndrome is a rare but serious complication of long bone fractures. Neurologic signs, petechial hemorrhages and acute respiratory failure constitute the characteristic presenting triad. The term cerebral fat embolism is used when the neurological involvement predominates. The diagnosis is clinical, but specific neuroimaging findings can be supportive. The neurologic manifestations include different degrees of alteration of consciousness, focal deficits or seizures. Management is supportive, but good outcomes are possible even in cases with very severe presentation. We report two cases of paroxysmal sympathetic hyperactivity after cerebral fat embolism, which is a very uncommon association.

Dolor regional complejo tipo 1 en población pediátrica: artículo de revisión / Complex regional pain type 1 in pediatric population: review article

Dolor regional complejo se reconoce como una entidad caracterizada por dolor de distribución regional que es desproporcional al estímulo que lo provocó. Se diferencia en tipo 1 cuando no existe un daño neurológico orgánico y en tipo 2 cuando sí existe lesión neurológica de base. El diagnóstico y el tratamiento constituyen un verdadero reto. Es necesario un alto nivel de sospecha diagnóstica y la instauración de un oportuno tratamiento interdisciplinario.

Complex regional pain is a painful disorder without a known mechanism. Two different types are classified depending if there are or not a neurological structural damage. The diagnosis and treatment are real challenges to the interdisciplinary team that should identify and bring an effective treatment to the patients. Clinicians should be aware of this entity in order to prevent delay in diagnosis and provide an early and effective treatment.

Síncope único o muy poco frecuente en 104 casos / Single or very isolated syncope in 104 cases

Resumen Introducción: Es frecuente de encontrar personas enviadas para realizar la prueba de Tilt Test (TT), que sufrieron un solo síncope aislado o que ocurre muy ocasionalmente durante su vida. En este trabajo nos preguntamos en qué se diferencian estas personas de las que nunca tienen síncopes. Métodos: Realizamos el examen de TT en 104 pacientes que sufrieron sólo uno o como máximo 5 síncopes por cualquier causa durante su vida. Intentamos explicar cómo actúan los diferentes factores predisponentes para provocar el síncope. Resultados: Encontramos diferencias en factores predisponentes del síncope, entre nuestros pacientes y los controles en factores como: la herencia, la hipermovilidad articular, el encharcamiento venoso durante el TT, la ingesta de alimentos, el uso de fármacos, el estrés y la emoción. Conclusiones: En el síncope único o muy ocasional, deben conjugarse en la persona dos factores. Lo explicamos: Estos pacientes tienen una predisposición orgánica (herencia -hipermovilidad articular- falla en los baroreflejos, algunas enfermedades neurológicas, etc.) a presentar síncopes. Pero los síncopes no ocurrirán a menos que se agregue simultáneamente un factor ambiental, que actúa como un desencadenante (estadía larga de pie, estrés, dolor y emoción, deshidratación, drogas, comida abundante, etc.), es por eso que en estos pacientes los síncopes son tan raros.

Introduction: It is frequent meeting people sent to perform a tilt test suffering from a single or such isolated syncope that occur very occasionally during the patient's life. We ask ourselves how these people differ from those who never have syncopes. Methods: We performed tilt test in 104 patients who suffer a single or maximum 5 syncopes from any cause during their lifetimes. We try to explain how different predisposing factors act to provoke syncope. Results: We found differences between cases and controls in inheritance of syncopes, joint hypermobility, venous pooling during tilt test, food intake, use of drugs, stress and emotion as a trigger for syncope. Conclusions: Patients with single or occasional syncope have an organic predisposition (inheritance - joint hypermobility - failure in the baroreflexes, some neurological diseases, etc.) to present syncopes, but syncopes do not occur unless it is added simultaneously an environmental factor, which acts as a trigger (prolonged standing up - stress, pain and emotion - dehydration - drugs - abundant food, etc.) that is why these episodes are so rare.

Propuestas acerca de los trastornos funcionales: ¿disautonomía? / Proposals about functional disorders: dysautonomia?

Resumen INTRODUCCIÓN: los trastornos funcionales se han reconocido a través del tiempo de manera segmentaria y, por tanto, de manera incompleta, desde su diagnóstico hasta su tratamiento. Ejemplos de estos trastornos los constituyen: la migraña, el síndrome de colon irritable, la discinesia vesicular, la fibromialgia, el síndrome de fatiga crónica, la vejiga irritable, el síndrome de prolapso de la válvula mitral, la intolerancia ortostática, la taquicardia postural ortostática, el síncope vasovagal o, en conclusión, la hoy llamada disautonomía. PROPUESTAS: los trastornos funcionales, como el síndrome llamado disautonomía, podrían tener su origen en las respuestas rápidas y poco apropiadas que la amígdala realiza ante ciertos estímulos en relación con la memoria emocional. Se propone nombrar a estos trastornos "síndrome de respuesta disfuncional (REDIS), con el fin de evitar errores diagnósticos en los casos de disautonomía secundaria. Se propone, además, establecer el diagnóstico clínico de estos padecimientos y seleccionar tan sólo aquéllos para la prueba de inclinación en caso de poca respuesta al tratamiento inicial, en donde, los inhibidores de la recaptura de serotonina parecen controlar adecuadamente los síntomas.

INTRODUCTION: Functional disorders have been recognized over time in a segmental way, and therefore, incompletely, from diagnosis to treatment. Examples of such disorders are: migraine, irritable bowel syndrome, biliary dyskinesia, fibromyalgia, chronic fatigue syndrome, irritable bladder, mitral valve prolapse syndrome, orthostatic intolerance, orthostatic postural tachycardia, vasovagal syncope or, in conclusion, the so-called dysautonomia. PROPOSALS: Functional disorders, such as the syndrome called dysautonomia, could have its origin in the rapid and inappropriate responses that the amygdala makes before certain stimuli in relation to emotional memory. It is proposed to name such disorders as "dysfunctional response syndrome (REDIS)", in order to avoid diagnostic errors in cases of secondary dysautonomia. In addition, it is proposed to establish a clinical diagnosis of these conditions and to select only those for the tilt test in case of poor response to the initial treatment, where the serotonin reuptake inhibitors seem to perform an adequate control of the symptoms.

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).

Evaluación de la Presencia de Disautonomía en Pacientes con Parkinson mediante el Análisis de Señales Cardiovasculares / Assessment of the Dysautonomia Presence in Parkinson disease through Cardiovascular Signal Analysis

Resumen: En este trabajo se evalúa y compara la respuesta del sistema nervioso autónomo (SNA) en pacientes con enfermedad de Parkinson (EP) y sujetos sanos para detectar la posible presencia de disautonomía. Las señales de electrocardiograma y fotopletismografía fueron adquiridas durante las maniobras: reposo, cambio de postura (Post-CP), respiración controlada (RC) e hiperventilación (Hip.). El análisis de las señales incluyó índices de la variabilidad de la frecuencia cardiaca (VFC) lineales y no lineales, índices de la señal de tiempo de tránsito de pulso y la sensibilidad del barorreflejo (índice α). Los pacientes con Parkinson mostraron una alteración en la modulación simpática principalmente durante Post-CP y una deficiencia en la respuesta cardiovagal en RC. La entropía aproximada disminuyó significativamente en sujetos sanos respecto a pacientes con EP durante RC. El índice α fue menor en pacientes con EP con respecto a sujetos sanos durante todo el protocolo, lo cual sugiere una alteración en el control del barorreflejo en EP. Sin embargo, es necesario aumentar el número de sujetos con la finalidad de determinar grados de disautonomía. El protocolo diseñado para evaluar la presencia de disautonomía en mexicanos con EP a través de señales no invasivas aportó información sobre el comportamiento del SNA.

Abstract: The goal of this work is to assess and to compare the autonomic nervous system (SNA) response in Parkinson's disease (EP) patients and healthy subjects in order to evaluate the possible dysautonomia presence. Electrocardiogram and photoplethysmography signals were acquired during the following maneuvers: rest, orthostatic change (Post-CP), controlled breathing (RC) and hyperventilation (Hip.). The signal processing was carried out by means of linear and no linear indices of heart rate variability (VFC), indices of pulse transit time (PTT) and baroreflex sensitivity (α index). Parkinson disease patients showed an attenuated sympathetic modulation mainly during Post-CP and the cardiovagal response resulted blunted during RC. Approximate entropy was significantly decreased in healthy subjects with respect to EP subjects during RC. In addition, the index α resulted in lower values in EP patients with respect to healthy subjects during the complete protocol, this result suggests that the baroreflex control in EP patients is blunted. However, is necessary to increase the number of subjects with the objective of determining levels of dysautonomia. The protocol designed to evaluate the dysautonomia presence in mexicans with EP through non invasive signals provides information about the SNA behavior.

A Study of Cardiac Autonomic Neuropathy and Its Correlation with QTc Dispersion in Type-2 Diabetes Mellitus.

Aims: To evaluate the presence of cardiac autonomic neuropathy in Type-2 Diabetes and to correlate autonomic dysfunction with QTc dispersion. Study Design: This was a hospital based cross-sectional study carried out in the department of Medicine JSS Hospital Mysore, India between March 2012 and March 2013. Methodology: We included 50 Diabetes patients (Cases) and 50 Non Diabetes healthy adults (Controls) of both genders. Five standard cardiovascular response tests were carried out (Valsalva ratio, expiration-inspiration ratio, immediate heart rate response to standing, fall of systolic blood pressure on standing and sustained hand grip test) to determine the severity of cardiac autonomic neuropathy. QTc dispersion was determined by subtracting heart rate-corrected minimum QTc interval (QTc min) from maximum QT interval (QTc max) from standard electrocardiogram. Results: 17 patients (34%) had evidence of cardiac autonomic neuropathy. Of this 8 (16%) had borderline and 9(18%) had abnormal CAN. In the control group only 1(2%) had CAN. (P value of 0.000) Mean QTc in cases was 41.60+/-18.11) and in controls was 20.80(+/-4.88) QTc dispersion was 32.7(+/-13.0) in those without CAN and 48.75(+/-9.71) in borderline CAN and 67.77(+/-9.71_in abnormal CAN group. (P =0.000). Conclusion: Prolonged QTc a feature of autonomic dysfunction due to diabetes. QTc dispersion correlates significantly with presence of cardiac autonomic neuropathy and may be a simple and useful measure for detection of cardiac autonomic neuropathy.

Dermatological Manifestations of Postural Tachycardia Syndrome Are Common and Diverse

BACKGROUND AND PURPOSE: Postural tachycardia syndrome (POTS) is a syndrome of orthostatic intolerance in the setting of excessive tachycardia with orthostatic challenge, and these symptoms are relieved when recumbent. Apart from symptoms of orthostatic intolerance, there are many other comorbid conditions such as chronic headache, fibromyalgia, gastrointestinal disorders, and sleep disturbances. Dermatological manifestations of POTS are also common and range widely from livedo reticularis to Raynaud's phenomenon. METHODS: Questionnaires were distributed to 26 patients with POTS who presented to the neurology clinic. They were asked to report on various characteristics of dermatological symptoms, with their answers recorded on a Likert rating scale. Symptoms were considered positive if patients answered with "strongly agree" or "agree", and negative if they answered with "neutral", "strongly disagree", or "disagree". RESULTS: The most commonly reported symptom was rash (77%). Raynaud's phenomenon was reported by over half of the patients, and about a quarter of patients reported livedo reticularis. The rash was most commonly found on the arms, legs, and trunk. Some patients reported that the rash could spread, and was likely to be pruritic or painful. Very few reported worsening of symptoms on standing. CONCLUSIONS: The results suggest that dermatological manifestations in POTS vary but are highly prevalent, and are therefore of important diagnostic and therapeutic significance for physicians and patients alike to gain a better understanding thereof. Further research exploring the underlying pathophysiology, incidence, and treatment strategies is necessary.

Encefalitis por anticuerpos contra el receptor NMDA en tres pacientes pediátricos no asociados a tumor / Anti-NMDA receptor encephalitis in three pediatric patients without associated tumor

La encefalitis asociada a anticuerpos contra el receptor N metil D aspartato (anti-R NMDA) fue descrita por primera vez en 2005. Hoy en día es la segunda causa de encefalitis autoinmune en la población pediátrica. A diferencia de la presentación en adultos, en niños la encefalitis anti-R NMDA se asocia en menor escala a tumores y los trastornos de movimiento son más comunes. Aquí presentamos tres casos en niños, con un rango de edad entre 3 y 7 años. Las discinesias fueron el síntoma de presentación en el primer caso, y no se evidenciaron síntomas psiquiátricos. La paciente posteriormente desarrolló un estatus convulsivo y deterioro de conciencia, con alteraciones del lenguaje. El segundo caso, luego de un periodo prodrómico, desarrolló cambios comportamentales, discinesias, disautonomía, estatus convulsivo y deterioro de conciencia. En ambos casos el desenlace fue favorable con el tratamiento y en el seguimiento ambos pacientes se encontraron con buena clase funcional. Se concluye que una alta sospecha diagnóstica que permita la instauración de un tratamiento adecuado y oportuno lleva a una recuperación funcional en el tiempo, y requiere el apoyo de un equipo multidisciplinario.

The encephalitis associated with antibodies against N-methyl-D-aspartate Receptor (anti-R NMDA) was first described in 2005. Today it is the second leading cause of autoimmune encephalitis in the pediatric population. Unlike the presentation in adults, in children, it is less frequently associated with tumors but, movement disorders are more common. Here, we present two cases of children with anti-R NMDA encephalitis. The first one was three and a half years old at the time of diagnosis and the second was seven years old. Dyskinesias were the presenting symptom in the first case, and this patient showed no psychiatric symptoms. She subsequently developed a convulsive status and impaired consciousness with language disorders. The second case, after a prodromal period, developed behavioral changes, dyskinesias, dysautonomia, convulsive status and impaired consciousness. In both cases a good outcome was achieved with treatment and patients were found in good functional class status during the follow up. We conclude that reaching the appropriated diagnosis early on during the course of the disease allowed the establishment of the proper and timely treatment which leads to a good functional recovery over time. This usually requires the support of a multidisciplinary team.