Efficacy of ketogenic diet in WWOX-related epileptic encephalopathy

Gürkan Gürbüz, Ozge Berfu Gürbüz

Keywords: Epilepsy; Ketogenic diet; WWOX gene mutation.

Introduction:

Infantile epileptic encephalopathies are rare diseases that is characterized by paroxysmal interictal activity on the electroencephalogram, frequent and severe seizures, and developmental delay. Etiology can be genetic, metabolic or structural.

Case:

The WWOX gene mutation is one of the rare cause of genetic epileptic encephalopathy with autosomal recessive inheritance. A homozygous p.L239R (c.716T> G) mutation in the WWOX gene was found in 3 siblings who were admitted to our center with epileptic encephalopathy, microcephaly, progressive spasticity and optic atrophy, and who have a second degree consanguinity in between their parents. Cessation of seizures of the youngest sibling was seen with the initiation of ketogenic diet.

Discussion:

This case report will shed light on new studies in terms of the effectiveness of the ketogenic diet in WWOX related epileptic encephalopathy.

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