Csak Timea, Folhoffer Aniko, Horvath Andrea, Halász Judit, Diczházi Csaba, Schaff Zsuzsa, Szalay Ferenc
1st Department of Medicine, Semmelweis University, Koranyi St. 2A, H-1083 Budapest, Hungary.
World J Gastroenterol. 2006 Mar 7;12(9):1485-7. doi: 10.3748/wjg.v12.i9.1485.
A 35-year-old female patient presented with the following symptoms of Holmes-Adie syndrome: photophobia,enlargement of the left pupil unresponsive to light, Achilles areflexia. The pilocarpine test was positive. No tumor or other neurological abnormality was found. She had a 19-year history of autoimmune hepatitis. Flares up were observed following each 3 deliveries. At age of 31 she presented with diarrhea and weight loss. Abdominal tumor was detected by ultrasound. The surgically removed tumor was histologically a benign mesenteric multicystic lymphangioma.Simultaneously, celiac disease was diagnosed.Gluten-free diet resulted in a significant improvement of celiac disease,but not of autoimmune hepatitis. Autonomic neuropathy was proven by standard cardiovascular tests. The patient was a homozygous carrier for HLA DQ2 antigen characteristic for celiac disease and heterozygous for HLA DR3 B8 frequent in autoimmune liver diseases. Our novel observation on association of Holmes-Adie syndrome with autoimmune hepatitis and celiac disease is suggestive for a common immunological background for all three entities present in a patient with mesenteric multicystic lymphangioma.
一名35岁女性患者出现了以下霍姆斯-阿迪综合征症状：畏光、左侧瞳孔散大且对光无反应、跟腱反射消失。毛果芸香碱试验呈阳性。未发现肿瘤或其他神经学异常。她有19年的自身免疫性肝炎病史。每次分娩后均观察到病情复发。31岁时，她出现腹泻和体重减轻。超声检查发现腹部有肿瘤。手术切除的肿瘤组织学检查为良性肠系膜多囊性淋巴管瘤。同时，诊断出患有乳糜泻。无麸质饮食使乳糜泻有显著改善，但自身免疫性肝炎无改善。标准心血管检查证实存在自主神经病变。该患者是乳糜泻特征性的HLA DQ2抗原纯合携带者，也是自身免疫性肝病中常见的HLA DR3 B8杂合携带者。我们关于霍姆斯-阿迪综合征与自身免疫性肝炎和乳糜泻关联的新观察结果提示，患有肠系膜多囊性淋巴管瘤的患者中，这三种疾病存在共同的免疫背景。
