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29-12-2023 | Status Epilepticus | Scientific Letter

Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Authors: Vykuntaraju K. Gowda, Ayeesha Siddiqa, Varunvenkat M. Srinivasan

Published in: Indian Journal of Pediatrics | Issue 5/2024

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). …

Andresen BS, Olpin S, Poorthuis BJ, et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet. 1999;64:479–94.CrossRefPubMedPubMedCentral

Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Annu Rev Physiol. 2002;64:477–502.CrossRefPubMed

Tein I. Role of carnitine and fatty acid oxidation and its defects in infantile epilepsy. J Child Neurol. 2002;17:3S57–82; discussion 3S82–3.

Title: Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Authors: Vykuntaraju K. Gowda
Ayeesha Siddiqa
Varunvenkat M. Srinivasan
Publication date: 29-12-2023
Publisher: Springer India
Keywords: Status Epilepticus
Hypoglycemia
Vigabatrin
Published in: Indian Journal of Pediatrics / Issue 5/2024
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI: https://doi.org/10.1007/s12098-023-05005-w

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Super-Refractory Status Epilepticus Progressing to Infantile Epileptic Spasms Syndrome Secondary to Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

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