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Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy is not a common neurological finding in EDS. Here we report a pediatric patient with EDS comorbid with  STXBP1  related epileptic encephalopathy as ‘electrical status epilepticus during slow-wave sleep (ESES)’ and whose refractory epileptic seizures were controlled with ketogenic diet. A 6-year-old girl who had EDS presented with refractory seizures and worsening cognitive functions. Her sleep electroencephalography (EEG) revealed electrical status epilepticus during slow-wave sleep (ESES). The epileptic encephalopathy panel revealed a de novo c.560C &gt; T (p.pro187Leu) heterozygous mutation in the  STXPB1  gene. Ketogenic diet treatment was started for her refractory seizures and seizures stopped in the third month of the 3:1 classical ketogenic diet. Our case is remarkable due to the coexistence of EDS and epileptic encephalopathy as well as ESES findings in STXBP1-associated epileptic encephalopathy and is therefore presented. Ketogenic diet would be beneficial on the management of refractory seizures in  STXBP1- related epileptic encephalopathy and ESES.

Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1- related epileptic encephalopathy