Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines.

• The effect of ketogenic diet therapy on intractable epilepsy in infantile Alexander disease has not well characterized. • In all the cases, ketogenic diet therapy controlled well the drug-resistant seizures and suppressed the epileptic activities on EEG. • In all the cases, the brain MRI findings deteriorated, even after the epilepsies were controlled. • The concentrations of astroglial chemokines and proinflammatory cytokines in the CSF of the patients decreased but remained still high. • Our results support previous reports arguing neuroinflammation involvement in the pathophysiology of infantile Alexander disease. In infantile Alexander disease (iAxD), one of the serious symptoms is intractable epilepsy, and some reports have suggested that neuroinflammation may be involved in the pathophysiology of the disease. Drug-resistant seizures adversely affect not only the quality of life of the caregivers and patients, but also patients' lifespan. Thus, controlling epilepsy is clinically important. For intractable childhood epilepsy, ketogenic diet therapy (KDT) is well-established, but its effects on iAxD have not been characterized. Here, we describe the use of KDT in three iAxD patients experiencing drug-resistant seizures. In all three cases, the formerly intractable epilepsies were well controlled by KDT. However, the brain magnetic resonance imaging findings deteriorated even after the epilepsy was controlled. In addition, the concentrations of monocyte chemotactic protein-1 and proinflammatory cytokines in the cerebrospinal fluid of the patients remained still high. KDT is effective in controlling epilepsy in iAxD. Our results clinically support previous reports arguing the involvement of neuroinflammation in the pathophysiology of iAxD. Although KDT cannot prevent disease progression, earlier initiation might contribute to a better prognosis. [ABSTRACT FROM AUTHOR]