Van Biervliet S, Verloo P, Vande Veldel S, Van Winckel M, Smet J, Seneca S, De Meirleir L, Van Coster R
Pediatric Gastroenterology, Ghent University hospital, Ghent, Belgium.
Acta Gastroenterol Belg. 2009 Jul-Sep;72(3):365-8.
We describe a patient in whom abdominal pain and vomiting were the presenting symptoms of Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-like episodes syndrome (MELAS). Mitochondrial disorders usually present with neurological symptoms or with myopathic features at any age. Although many patients develop visceral symptoms at a certain moment during the course of the disease, only in a minority of patients these symptoms are the unique presenting ones. The proband was initially diagnosed as having gastro-oesophageal reflux and it was only after detailed clinical history that an underlying metabolic defect was suspected and the molecular defect identified.
我们描述了一名患者，其腹痛和呕吐是线粒体肌病脑病伴乳酸酸中毒和卒中样发作综合征（MELAS）的首发症状。线粒体疾病通常在任何年龄出现神经症状或肌病特征。虽然许多患者在疾病过程中的某个时刻会出现内脏症状，但只有少数患者这些症状是唯一的首发症状。先证者最初被诊断为胃食管反流，只有在详细询问临床病史后才怀疑存在潜在的代谢缺陷并确定了分子缺陷。
