Ketogenic diet therapy in the epilepsy of infancy with migrating focal seizures associated with TBC1D24 gene mutation: two case reports and literature review / 中华神经科杂志

ABSTRACT

Objective:To investigate the efficacy and safety of ketogenic diet (KD) therapy in the epilepsy of infancy with migrating focal seizures (EIMFS) associated with TBC1D24 gene mutation.Methods:Clinical data of two children with TBC1D24 gene-related EIMFS were collected retrospectively, who were admitted to Department of Pediatrics, Fujian Medical University Union Hospital from 2019 to 2020. Their clinical characteristics and the efficacy and safety of KD therapy were analyzed, and literature review was conducted.Results:Seizures were onset before six months old in the two children with TBC1D24 gene-related EIMFS. Multifocal myoclonic seizures were manifested and happened frequently, lasting for more than 30 minutes sometimes. Developmental retardation was obvious in the two children. A small amount of focal sharp, spike, sharp-slow complex, and spike-slow complex waves were showed in the interictal electroencephalography (EEG). TBC1D24 gene mutations were found in the two children, one with a compound heterozygous mutation (c.1025C>T, p.S342L; c.229_c.240delATCGTGGGCAAG,p.I77_K80del), and the other with a homozygous mutation [c.119G>A,p.R40H(Arg40His)]. Both of those were potentially pathogenic. A variety of anti-epileptic drugs showed poor outcome for the two children. The epilepsy was drug-refractory one. After four to 17 months of KD therapy, the epilepsy in the two children was controlled effectively. There was not obvious adverse reactions. Among six children with TBC1D24 gene-related EIMFS in the literature review, four cases were effective or partially effective for KD therapy, one was discontinued due to insufficient ketogenic ratio, and one was discontinued without effect. There were no obvious adverse reactions in the six children.Conclusions:TBC1D24 gene-related EIMFS is mostly drug-refractory epilepsy. Early KD therapy may help to control seizures.