Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy
International Journal of Neuroscience, cilt.132, sa.9, ss.950-952, 2022 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 132 Sayı: 9
- Basım Tarihi: 2022
- Doi Numarası: 10.1080/00207454.2020.1858825
- Dergi Adı: International Journal of Neuroscience
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Psycinfo
- Sayfa Sayıları: ss.950-952
- Anahtar Kelimeler: Ehlers-Danlos Syndrome, STXBP1-related epileptic encephalopathy, electrical status epilepticus during slow-wave sleep (ESES), ketogenic diet
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Purpose/Aim: 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. Case report: 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 > 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. Conclusion: 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.