John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype Volume 21, numéro 1, February 2019

Illustrations

  • Figure 1
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Auteurs
1 Department of Pediatric Epilepsy, Beaumont Health, Royal Oak, MI 48073
2 Oakland University William Beaumont School of Medicine, Rochester, MI 48309, USA
* Correspondence: Danielle A. Nolan Beaumont Children's, Neuroscience Center, 3555 West 13 Mile Rd, Suite N120, Royal Oak, MI 48073, USA
  • Mots-clés : developmental delay, seizure, refractory epilepsy, cerebral atrophy, encephalopathy congenital, DNM1L
  • DOI : 10.1684/epd.2019.1036
  • Page(s) : 112-6
  • Année de parution : 2019

Dynamin-1-like protein (DNM1L) gene variants have been linked to childhood refractory epilepsy, developmental delay, encephalopathy, microcephaly, and progressive diffuse cerebral atrophy. However, only a few cases have been reported in the literature and there is still a limited amount of information about the symptomatology and pathophysiology associated with pathogenic variants of DNM1L. We report a 10-year-old girl with a one-year history of mild learning disorder and absence seizures who presented with new-onset focal status epilepticus which progressed to severe encephalopathy and asymmetric hemispheric cerebral atrophy. Differential diagnosis included mitochondrial disease, Rasmussen's encephalitis, and autoimmune encephalitis. Disease progressed from one hemisphere to the other despite anti-seizure medications, hemispherectomy, vagus nerve stimulator, ketogenic diet, and immunomodulators. Continued cerebral atrophy and refractory seizures evolved until death four years after initial presentation. Post-mortem whole-exome sequencing revealed a pathogenic DNM1L variant. This paper presents a novel case of adolescent-onset DNM1L-related intractable epilepsy and encephalopathy.