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A girl with protein-losing enteropathy during a ketogenic diet: a case report

Juan Wang1, Li Jiang2, Min Cheng1

  • 1Department of Neurology, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation base of Child development and Critical Disorders, Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders, Children's Hospital of Chongqing Medical University, No.136, zhongshan 2nd road, yuzhong district, chongqing, 400014, China.

BMC Pediatrics
|March 5, 2020
PubMed

Insights

Protein-losing enteropathy (PLE) is a rare complication of ketogenic diets (KD) for epilepsy. Adjusting the KD ratio, not discontinuing it, can effectively manage PLE and maintain seizure control.

Area of Science:

  • Pediatric Neurology
  • Gastroenterology
  • Metabolic Disorders

Background:

  • Ketogenic diets (KD) are crucial for managing intractable childhood epilepsy.
  • Protein-losing enteropathy (PLE) is a rare but severe complication associated with KDs.

Observation:

  • A 3-month-old infant with STXBP1 gene variation presented with PLE, edema, and hypoalbuminemia during KD therapy for epilepsy.
  • Endoscopic findings revealed intestinal lymphangiectasia, leading to a diagnosis of PLE.
  • The patient experienced resolution of edema and hypoalbuminemia after reducing the KD ratio from 4:1 to 1.05:1.

Findings:

  • Decreasing the ketogenic ratio successfully managed PLE in this pediatric epilepsy patient.
  • The patient achieved a sustained 20-month seizure-free state with improved neurological status (disappearance of convulsions and hypsarrhythmia).

Implications:

  • Modifying the KD ratio is a viable strategy for managing PLE, preserving the diet's efficacy for intractable epilepsy.
  • This approach highlights the importance of individualized KD management in pediatric patients with complex conditions.
Abstract

Keywords:
EdemaIntractable epilepsyKetogenic dietProtein-losing Enteropathy

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