期刊
BMC PEDIATRICS
卷 20, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s12887-020-1991-8
关键词
Ketogenic diet; Protein-losing Enteropathy; Edema; Intractable epilepsy
类别
资金
- National Natural Science Foundation of China [81701277]
- Department of Neurology (or Pediatric Research Institute)
- Ministry of Education Key Laboratory of Child Development and Disorders
- National Clinical Research Center for Child Health and Disorders (Chongqing)
- China International Science and Technology Cooperation base of Child development and Critical Disorders
- Children's Hospital of Chongqing Medical University, Chongqing, P.R China
- Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders
Background A ketogenic diet (KD) is an effective treatment for intractable epilepsy in children. Protein-losing enteropathy (PLE) is a rarely reported but serious complication of KDs. Case presentation A 3-month-old female patient presented with PLE while following a KD as treatment for intractable epilepsy. She also had genovariation of the STXBP1 gene. The patient suffered from general edema and hypoalbuminemia but no diarrhea. Esophagogastroduodenoscopy (EDG) revealed lymphatic ectasia in the lamina propria. We diagnosed her with intestinal lymphangiectasia, and after decreasing the KD ratio from 4:1 to 1.05:1, we successfully controlled her edema and hypoalbuminemia. As of now, the convulsions and hypsarrhythmia have disappeared, and the seizure-free state has lasted for 20 months. Conclusions PLE may be managed by decreasing the ketogenic ratio rather than discontinuing a KD since for some patients, a KD is the only effective therapy available at present.
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