Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy.
Int J Neurosci
; 132(9): 950-952, 2022 Sep.
Article
em En
| MEDLINE
| ID: mdl-33272087
ABSTRACT
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 31 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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Estado Epiléptico
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Epilepsia Generalizada
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Síndrome de Ehlers-Danlos
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Epilepsia
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Dieta Cetogênica
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article