Abstract
BackgroundA 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 presentationA 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.ConclusionsPLE 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.
Highlights
A ketogenic diet (KD) is an effective treatment for intractable epilepsy in children
Protein–losing enteropathy (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
The patient had been treated with 4 antiepileptic drugs (AEDs) for 3 months, and the seizures were still progressing, which indicated that the epilepsy was medically refractory
Summary
A ketogenic diet (KD) is an effective treatment for intractable epilepsy in children. 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. When the patient was 3 months old, she suffered protein–losing enteropathy (PLE) while following the KD.
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