ArticleCase reports in pediatrics2026
Managing Drug-Resistant Epilepsy and Severe Feeding Difficulties in Miller-Dieker Syndrome: The Role of Enteral Ketogenic Diet.
Article in Case reports in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Miller-Dieker syndrome (MDS) is a rare genetic disorder characterized by classical lissencephaly, severe neurodevelopmental impairment, and early-onset drug-resistant epilepsy. Feeding difficulties and aspiration pneumonia significantly contribute to morbidity and mortality. Evidence regarding ketogenic diet (KD) therapy in patients with severe neurological impairment requiring exclusive enteral nutrition is limited. We report the case of an infant with MDS and pharmacoresistant epilepsy complicated by severe feeding intolerance and recurrent aspiration pneumonia. KD was initiated via postpyloric enteral feeding and subsequently administered through percutaneous endoscopic jejunostomy using a low ketogenic ratio (1.25:1). The diet was well tolerated and associated with seizure freedom maintained until the child's death from an unrelated surgical complication (volvulus), improved nutritional status, and several months of clinical stability. This case highlights the feasibility of enteral KD therapy as part of a multidisciplinary, palliative-oriented approach for managing drug-resistant epilepsy in children with MDS.
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