Internal Medicine, Harbor-UCLA Medical Center Department of Internal Medicine, Torrance, California, USA.
Hospital Medicine, University of California Irvine, Orange, California, USA.
BMJ Case Rep. 2022 Jul 27;15(7):e249727. doi: 10.1136/bcr-2022-249727.
Here we report the first case of an association between cystic fibrosis and Wernicke's encephalopathy. The patient had a history of cystic fibrosis diagnosed in her early 60s associated with pancreatitis and chronic lung disease. She presented with a traumatic hip fracture requiring operative repair. On examination, she was found to have bilateral nystagmus. MRI revealed enhancement of the mammillary bodies. Laboratory results were notable for thiamine deficiency, which in context of the radiographic and physical examination findings, confirmed a diagnosis of Wernicke's encephalopathy. The cause of her low thiamine was thought to be poor dietary intake, weight loss and malabsorption associated with exocrine pancreatic insufficiency in the setting of a history of recurrent pancreatitis. The patient had complete resolution of her symptoms with the initiation of thiamine supplementation and pancreatic enzymes. Although classically associated with fat soluble vitamin deficiencies, there are increasing reports of water-soluble vitamin deficiencies associated with cystic fibrosis.
我们在此报告首例囊性纤维化与韦尼克脑病相关的病例。该患者 60 多岁时被诊断为囊性纤维化,伴有胰腺炎和慢性肺部疾病。她因创伤性髋部骨折需要手术修复。体格检查发现患者有双侧眼球震颤。MRI 显示乳头部增强。实验室检查结果提示硫胺素缺乏,结合影像学和体格检查结果,确诊为韦尼克脑病。考虑到她摄入不足、体重减轻和吸收不良,导致硫胺素水平低,其病因与反复发作胰腺炎导致的外分泌胰腺功能不全有关。患者开始补充硫胺素和胰腺酶后,症状完全缓解。尽管韦尼克脑病通常与脂溶性维生素缺乏有关,但越来越多的报道显示囊性纤维化与水溶性维生素缺乏有关。