[Autonomic dysfunction syndromes associated with orthostatic intolerance]. / Síndromes de disfunción autonómica asociados con intolerancia ortostática.

In recent years increased interest has focused on the nature and pathophysiology of orthostatic intolerance and syndromes associated with autonomic disorders. Understanding the pathophysiology underlying these syndromes has led to the recognition of several distinct clinical entities with overlapping features and the associated need to reclassify many of the previously unrecognized syndromes. Among the clinical manifestations, syncope and near syncope are frequently associated with orthostatic intolerance. In addition, however, a wide spectrum of symptoms have been described ranging from chronic fatigue to recurrent neurally mediated vasodepressor reactions. The present review focuses on the pathophysiology and classification of syndromes of autonomic dysfunction associated with orthostatic intolerance. Primary and secondary causes of dysautonomia as well as therapeutic approach to these frequently unrecognized syndromes is presented.

Síndrome de shy-drager: relato de caso / The shy-dkager syndrome: case report

Revisão sobre uma síndrome parkinsoniana atípica, a síndrome de Shy-Drager, neuropatia caracterizada por hipotensão ortostática, sintomas disautonômicos (oscilação da pressão arterial, tremores de repouso, bradicinesia, incontinência fecal e urinária) e atrofia de múltiplos sistemas. A paciente apresentou quadro clínico de hipotensão ortostática com quedas frequentes, disfonia, disartria, disfagia e dificuldades para deambulação. Várias doenças metabólicas e neurológicas foram investigadas sem diagnóstico definitivo. O predomínio de sintomas disautonômicos sugeriu a hipótese desta síndrome, que foi confirmada por exame de ressonância nuclear magnética. A doença teve evolução degenerativa de acordo com o descrito na literatura. Trata-se de síndrome rara, mas de morbi-mortalidade significativa que, por não apresentar tratamento definitivo, exige o seu conhecimento, para que, ao menos, possam ser evitadas as complicações inerentes à doença, melhorando, assim, a qualidade de vida dos pacientes.

A case of atypical Parkinson's syndrome, the Shy-Drager Syndrome, with neuropathy characterized by orthostatic hypotension, disautonomic symptoms (oscillation of blood pressure, resting tremor, bradykinesia, fecal and urinary incontinence) and atrophy of multiple systems. The patient had symptomatology of orthostatic hypotension with frequent falls, dysphonia, dysarthria, dysphagia and difficulties in walking. Several metabolic and neurologic diseases were investigated. A precise diagnosis was not reached. The predominance of disautonomic symptons suggests the hypothesis of Shy-Drager syndrome, what was confirmed by magnetic nuclear resonance. The disease had degenerative evolution in compliance with literature. The practitioner should be aware of this rare syndrome.

[Dysautonomic features in patients with Cuban type 2 spinocerebellar ataxia]. / Manifestaciones disautonómicas en pacientes de ataxia espinocerebelosa tipo 2 cubana.

INTRODUCTION: Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of the sympathetic or parasympathetic nervous systems in either the peripheral or central parts. OBJECTIVE: To identify the clinical features related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. PATIENTS AND METHODS: We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair, unable to walk and totally or partly dependent on other people for essential everyday activities). The patients and their families were closely questioned, and full clinical examination included a test for orthostasia. RESULTS: All patients had some signs of peripheral dysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynaud s phenomenon, etc.), 95.2% (constipation, urinary and rectal incontinence, polachuria, palpitations, tachycardia at rest, etc.), exocrine gland disorders in 71.4% (increased lachrymation, reduced sweating, increased or reduced salivation), 87.5% peripheral tissue nutrition disorders. Similarly, in all patients studied there was evidence of central dysautonomic disorder, with a syndrome of cachexia with bulimia, sleep disorders together with dysregulation of thirst and body temperature. CONCLUSIONS: In patients with type 2 hereditary spinocerebellar ataxia with severe disability there was involvement of the peripheral and central nervous system regulating autonomic function.

Manifestaciones disautonómicas en pacientes con ataxia espinocerebelosa tipo 2 cubana / Dysautonomic features in patients with Cuban type 2 spinocerebellar ataxia

Introducción: las manifestaciones disautonómicas son todos aquellos síntomas o signos clínicos que se derivan de un funcionamiento anómalo del sistema nervioso simpático o parasimpático, tanto en sus porciones periféricas como centrales. Objetivo: Identificar las manifestaciones clínicas relacionadas con disautonomías en el paciente de ataxia espinocerebelosa tipo 2 con discapacidad funcional severa. Pacientes y métodos: Se realizó un estudio de serie de casos en 21 enfermos con discapacidad severa (confinados a la cama o silla de ruedas, que no pueden deambular y dependen total o parcialmente de otra persona para realizar las actividades vitales). Se efectuó un minucioso interrogatorio clínico a enfermos y familiares, así como un examen físico exhaustivo que incluyó la prueba de ortostatismo. Resultados: El 100 por ciento de la muestra presentaron alguna manifestación disautonómica periférica: trastornos vasomotores en el 100 por ciento (ortostatismo, frialdad y palidez distal, fenómeno de Raynaud, etc.), trastornos viscerales en el 95,2 por ciento (constipación, incontinencia vesical y rectal, polaquiuria, palpitaciones,taquicardia en reposo, etc.), glandular exocrino en el 71,4 por ciento (aumento lagrimal, sudoración disminuida, aumento o disminución salival), nutritivo tisular periférico en el 87,5 por ciento. Por otro lado, en el 100 por ciento de los enfermos estudiados se detectaron manifestaciones disautonómicas centrales dadas por un síndrome con predominio de caquexia asociada a bulimia, trastornos del sueño, disregulación de la sed y temperatura corporal. Conclusión: en los enfermos de ataxia espinocerebelosa hereditaria tipo 2 con discapacidad grave se detectó afectación del sistema nervioso central y periférico regulador de la función autónoma(AU)

Introducction: Dysautonomic features are the clinical signs and symptoms derived from anomalous functioning of the sympathetic or parasympathetic nervous systems in either the peripheral or central parts. Objective: To identify the clinical features related to dysautonomia in a patient with spinocerebellar ataxia with severe functional disability. Patients and methods: We studied a series of cases, including 21 patients with severe disability (confirmed to their bed or wheelchair, unable to walk and totally or partly dependent on other people for essential everyday activities). The patients and their families were closely questioned, and full clinical examination included a test for orthostasia. Results: All patients had some signs of peripheral dysautonomia: all had vasomotor disorders (orthostasia, distal pallor and coldness, Raynaud s phenomenon, etc.), 95,2 percent (constipation, urinary and rectal incontinence, polachuria, palpitations, tachycardia at rest, etc.), exocrine gland disorders in 71,4 percent (increased lachrymation, reduced sweating, increased or reduced salivation), 87,5 percent peripheral tissue nutrition disorders. Similarly, in all patients studied there was evidence of central dysautonomic disorder, with a syndrome of cachexia with bulimia, sleep disorders together with dysregulation of thirst and body temperature. Conclusions: In patients with type 2 hereditary spinocerebellar ataxia with severe disability there was involvement of the peripheral and central nervous system regulating autonomic function(AU)

Síndrome de Shy-Drager: revisão e apresentação de um caso / Shy-Drager syndrome: revision and presentation of a case

A síndrome de Shy-Drager é uma doença rara descrita em 1960, que consiste em falência progressiva do sistema nervoso autônomo, com parkinsonismo e hipotensão ortostática. Os autores fazem uma revisão, relatando um caso e mostrando aspectos atuais sobre diagnóstico e tratamento.

Uso del octreótido durante la prueba de inclinación en el tratamiento de la hipotensión ortostática: caso clínico: síndrome de Shy-Drager / Use of octreotid during the inclination test in the treatment of ortostatic hypotension: clinical case: Shy-Drager syndrome

Presentamos los resultados de administrar un péptido vasoactivo como el octreótido en un paciente portador del síndrome de Shy-Drager, enfermedad que cursa con hipotensión ortostática severa. En este trabajo se describen los efectos de la prueba de inclinación o Tilt test. Durante el estudio basal, nuestro paciente desarrolló hipotensión ortostática severa, con el octreótido se observó un aumento significativo de la presión arterial diastólica sobre todo durante la inclinación a 60o. Este incremento es probablemente secundario a la vasoconstricción esplácnica producida por el octreótido, evitando la caída de la presión al redistribuir la volemia. El octreótido estaría indicado en casos refractarios para prevenir síntomas (AU)

Abnormally increased iron concentration in basal ganglia in Shy-Drager syndrome. MR imaging and autonomic study.

Report of an early case of Shy-Drager syndrome in a 67 year-old woman patient. Autonomic failure was diagnosed by functional evaluation as well as laboratory tests. MR imaging disclosed a prominent putamina hypodensity in T2-weighted images at high field strength due to iron increased depositing in this basal ganglia. MR imaging evidences confirm Shy-Drager syndrome diagnosis, and contributes for differential diagnosis of idiopathic hypotension (pure autonomic failure) in special in SDS early cases.

Abnormally increased iron concentration in basal ganglia in Shy-Drager syndrome: MR imaging and autonomic study

É relatado o caso de uma paciente de 67 anos de idade com quadro inicial da síndrome de Shy-Drager. O diagnóstico foi possível por provas funcionais autonômicas e exames laboratoriais. A ressonância magnética cerebral (contraste baseado na densidade de prótons e em T2) objetivou preminente hipodensidade putaminal em T2, secundária ao aumento do depósito do ferro nesta regiäo. Esse achado da RM confirma o diagnóstico da síndrome de Shy-Drager e permite diferenciá-la da hipotensäo ortostática idiopática, particularmente na fase de início da SSD quando os sinais de comprometimento do SNC säo discretos ou estäo ausentes

Hipotensión ortostática, disautonomia y signos neurologicos centrales / Orthostatic hypotension, dysautonomia and central neurologic signs

Se presenta el caso de una mujer de 68 años afectada de hipotensión ortostática, disfunción pupilar, sudoral y vesical, y respuestas hemodinámicas anormales a la maniobra de Valsalva, además de signos piramidales, extrapiramidales, disartria y amiotrofias distales, compatible con atrofia multisistémica (AMS), discutiendo la relación de este cuadro con la enfermedad o síndrome de Shy y Drager, del cual parece tratarse de una variante un tanto atípica por: 1) La ausencia de signos cerebelosos, 2) La preservación de respuestas parasimpáticas y 3) La rareza de los hallazgos neuroquímicos.

Hipotensión ortostática, disautonomia y signos neurologicos centrales / Orthostatic hypotension, dysautonomia and central neurologic signs

Se presenta el caso de una mujer de 68 años afectada de hipotensión ortostática, disfunción pupilar, sudoral y vesical, y respuestas hemodinámicas anormales a la maniobra de Valsalva, además de signos piramidales, extrapiramidales, disartria y amiotrofias distales, compatible con atrofia multisistémica (AMS), discutiendo la relación de este cuadro con la enfermedad o síndrome de Shy y Drager, del cual parece tratarse de una variante un tanto atípica por: 1) La ausencia de signos cerebelosos, 2) La preservación de respuestas parasimpáticas y 3) La rareza de los hallazgos neuroquímicos. (AU)

Síndrome de shy-draguer

Se presenta el estudio clínico, farmacológico y electrofisiológico de un varón de 59 años con hipotensión ortostática severa de año y medio de evolución, acompañada por síntomas del sistema nervioso tanto central como periférico: impotencia, anhidrosis "en parches", deficit sensitivo superficial y profundo, temblor de tipo cerebeloso y preservación de las funciones mentales. La sintomatología se acentuó en forma progresiva e incapacitante durante los años de observación. Esta condición corresponde al Síndrome de Shy-Draguer o atrofia multisitémica del sistema nervioso, una entidad de rara ocurrencia caracterizada por degeneración neuronal en los ganglios autónomos, núcleos del tallo cerebral, células de Purkinje, núcleos grises basales y por lesiones cordonales espinales de causa desconocida. El diagnóstico diferencial del Síndrome de Shy-Draguer con otras formas de hipotensión ortostática (mal ajuste postural y formas secundarias), que ocurren con mayor frecuencia, es de importancia terapéutica y pronostica