RESUMO
Background: Ataxia with oculomotor apraxia (AOA1) is characterized by early-onset progressive cerebellar ataxia with peripheral neuropathy, oculomotor apraxia and hypoalbuminemia and hypercholesterolemia. Case Report: A 23-year-old previously healthy woman presented with slowly-progressive gait impairment since the age of six years. Neurological examination revealed profound areflexia, chorea, generalized dystonia and oculomotor apraxia. Brain MRI revealed mild cerebellar atrophy and needle EMG showed axonal sensorimotor neuropathy. Whole exome sequencing revealed a mutation in the aprataxin gene. Discussion: AOA1 can present with choreoathetosis mixed with dystonic features, resembling ataxia-telangiectasia. This case is instructive since mixed and complex movement disorders is not very common in AOA1. Highlights: Ataxia with oculomotor apraxia type 1 (AOA1) is characterized by early-onset ataxia and oculomotor apraxia caused by variants in the APTX gene.Ataxia is usually not the sole movement abnormality in AOA1.Hyperkinetic movement disorders, especially chorea and dystonia, may occur.Mixed and complex movement disorders is not very common in AOA1.Patients with early-onset ataxia associated with mixed movement disorders should also be investigated for AOA1.
Assuntos
Apraxias/fisiopatologia , Ataxia Cerebelar/congênito , Cerebelo/diagnóstico por imagem , Coreia/fisiopatologia , Distonia/fisiopatologia , Hipoalbuminemia/fisiopatologia , Reflexo Anormal/fisiologia , Apraxias/diagnóstico por imagem , Apraxias/genética , Atrofia , Ataxia Cerebelar/diagnóstico por imagem , Ataxia Cerebelar/genética , Ataxia Cerebelar/fisiopatologia , Doenças Cerebelares/fisiopatologia , Cerebelo/patologia , Proteínas de Ligação a DNA/genética , Eletromiografia , Feminino , Humanos , Hipoalbuminemia/diagnóstico por imagem , Hipoalbuminemia/genética , Proteínas Nucleares/genética , Adulto JovemRESUMO
Under normal conditions, the plasmatic oncotic pressure is determined mainly by albumin. Numerous trials in critically ill patients have showed that hypoalbuminemia is associated to poor outcome. So, the administration of exogenous albumin is an attractive therapeutic strategy, widely spread in different clinical scenes. Nevertheless, its use has been questioned in the last period and up to date there is no clear evidence of the real effectiveness and/or utility. This article reviews the physiological and pathophysiological concepts that would justify the use of synthetic albumin. According to current literature, discussion about the rationality of its use in different pathological situations exists, trying to outline those clinical conditions that could or could not benefit with its administration. Certainly, clinical guidelines with recommendations about the benefits and indications of this therapy are required. Hypoalbuminemia in the critically ill patient is produced principally by redistribution, secondary to changes in capillary permeability: "transcapillary leakage". The crucial interrelation between osmotic plasmatic pressure and albumin concentration in healthy individuals is lost in several critical conditions. Agreements on indications for use of albumin have not been achieved, since in different clinical context (resuscitation, sepsis, post-surgical, burns, nephrotic syndrome, ARDS) there are no significant advantages in morbidity and mortality of critically ill patients, compared to other cristalloids or synthetic colloids used. It is extremely important to develop clinical guidelines with recommendations on benefits and indications for the use of albumin in critically ill patients.
La albúmina es la principal determinante de la presión oncótica plasmática. La reducción de sus niveles séricos se asociaría a malos resultados clínicos, fundamentalmente, en la población de pacientes críticos, por lo cual su administración exógena resulta una estrategia terapéutica atractiva y ampliamente difundida. Su uso, sin embargo, ha sido cuestionado en el último tiempo, no existiendo a la fecha una clara evidencia de su real eficacia y/o utilidad. Objetivo: Revisar los conceptos fisiológicos y fisiopatológicos que subyacen al uso de albúmina sintética y evaluar la racionalidad de su utilización en distintas situaciones patológicas, intentando perfilar las condiciones clínicas que pudieran o no beneficiarse de su administración. La hipoalbuminemia en el paciente crítico está dada principalmente por un fenómeno de redistribución, secundario a cambios en la permeabilidad capilar (escape transcapilar), y la correlación entre presión osmótica plasmática y concentración de albúmina en individuos sanos, se pierde en condiciones críticas. A pesar de la literatura existente, no se han logrado acuerdos sobre las indicaciones para el uso de albúmina, ya que en los distintos contextos clínicos revisados, (resucitación, sepsis, post quirúrgicos, quemados, síndrome nefrótico, SDRA), no aparecen ventajas significativas en la morbimortalidad al compararla con el uso de cristaloides u otros coloides sintéticos, sin dejar de mencionar además el costo económico que representa su uso. Se requieren guías clínicas de consenso, basadas en la evidencia, que establezcan recomendaciones acerca de los beneficios e indicaciones de esta herramienta terapéutica, que por ahora aparece con indicaciones muy limitadas en los pacientes críticos.