Erschienen in:
29.12.2023 | Scientific Letter
Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
verfasst von:
Vykuntaraju K. Gowda, Ayeesha Siddiqa, Varunvenkat M. Srinivasan
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 5/2024
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Excerpt
To the Editor: Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) is an autosomal recessive disorder due to pathogenic variants in
ACADVL gene. Clinical presentation includes cardiomyopathy, encephalopathy, myopathy, and hypoketotic hypoglycemia [
1]. We are reporting on a rare phenotype of VLCAD presenting as super-refractory status epilepticus (SRSE) and later developing to infantile epileptic spasms syndrome (IESS). …