22-year-old girl with status epilepticus and progressive neurological symptoms

Pasquale Striano, Cameron A. Ackerley, Mariarosaria Cervasio, Jean Marie Girard, Julie Turnbull, Maria Laura Del Basso-De Caro, Salvatore Striano, Federico Zara, Berge A. Minassian

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

A 22-year-old girl presented with convulsive status epilepticus and a previous history of recurrent seizures, myoclonus, ataxia and impaired cognitive functions. Neurological examination revealed rest and action-induced myoclonus, pyramidal signs and opposition hypertonia. Testing revealed severe metabolic acidosis, elevated transaminases and creatine kinase, and respiratory insufficiency. After intubation and ventilation, thiopental was introduced but the patient?s condition worsened dramatically with death in a few hours. Autopsy showed profuse periodic acid?Schiff (PAS) positive intracellular inclusions in the CNS (Lafora bodies), most abundant in thalamus, cerebellum, and brainstem, as well as in other organs. Genetic testing revealed a homozygous missense mutation (c.205C mmmmmmG, P69A) in the EPM2B (NHLRC1) gene, confirming the diagnosis of progressive myoclonic epilepsy Lafora-type.

Original languageEnglish (US)
Pages (from-to)727-730
Number of pages4
JournalBrain Pathology
Volume19
Issue number4
DOIs
StatePublished - Oct 1 2009

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neuroscience(all)
  • Clinical Neurology

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    Striano, P., Ackerley, C. A., Cervasio, M., Girard, J. M., Turnbull, J., Del Basso-De Caro, M. L., Striano, S., Zara, F., & Minassian, B. A. (2009). 22-year-old girl with status epilepticus and progressive neurological symptoms. Brain Pathology, 19(4), 727-730. https://doi.org/10.1111/j.1750-3639.2009.00308.x