RESUMEN
Myoclonus-dystonia associated with epsilon-sarcoglycan gene (SGCE) is a rare disorder characterized by myoclonus involving the upper body (neck, trunk, upper limbs) and proximal muscles associated with dystonia in more than half of the patients. When the clinical picture is clearly identified, more than half of the cases are associated with mutations in the SGCE gene. We herein describe a family with myoclonus-dystonia associated with a novel mutation in exon 7 of SGCE, c.904A>T (p.Lys302Ter) [Chr7:(GRCh38):g.94600779 T>A], which was absent in a non-affected member. A video recording of two of the affected members is provided. While the index case presents a severe cervical dystonia even affecting back posture, his sibling shows a much milder phenotype with mild myoclonic jerks. None of them had alcohol responsiveness or psychiatric comorbidity.
Asunto(s)
Trastornos Distónicos , Mioclonía , Variación Biológica Poblacional , Trastornos Distónicos/genética , Humanos , Mutación/genética , Mioclonía/complicaciones , Mioclonía/genética , Sarcoglicanos/genéticaRESUMEN
La clínica del síndrome de la arteria mesentérica superior se basa en los siguientes síntomas: dolor epigástrico postpandrial, saciedad temprana, náuseas o vómitos biliosos, sobre todo en pacientes con una pérdida significativa de peso reciente o con una intervención quirúrgica previa, en la mayoría de ocasiones por escoliosis. En nuestro trabajo presentamos el caso de un varón de 83 años con antecedentes de fibrilación auricular y EPOC e intervenido por colecistitis litiásica crónica y ulcus péptico, que acude al servicio de urgencias con dolor abdominal intenso junto con vómitos y ausencia de ventoseo y deposición. Debemos pensar en este síndrome una vez descartadas las causas más frecuentes de dolor abdominal. Mediante la sospecha clínica y la realización del TC conseguimos un diagnóstico temprano, y evitamos complicaciones posteriores como alteraciones electrolíticas, perforación gástrica o gas venoso portal
The symptoms of superior mesenteric artery syndrome are: postprandial epigastric pain, early satiety, nausea or bilious vomiting, particularly in patients with significant recent weight loss or with previous surgery, most often scoliosis. We present the case of an 83-year-old man with a history of atrial fibrillation and COPD and previous surgeries due to peptic ulcer and chronic calculous cholecystitis, who arrives in the Emergency Department with severe abdominal pain, vomiting, not passing gas and constipation. We must think about this syndrome once the most frequent causes of abdominal pain have been ruled out. Thanks to clinical suspicion and CT scan we can obtain an early diagnosis and avoid later complications such as electrolyte imbalance, gastric perforation or portal venous gas