title: 22-year-old girl with status epilepticus and progressive neurological symptoms.
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 > G, P69A) in the EPM2B (NHLRC1) gene, confirming the diagnosis of progressive myoclonic epilepsy Lafora-type.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Cameron A
authors.initials: CA
authors.lastname: Ackerley
authors.forename: Mariarosaria
authors.initials: M
authors.lastname: Cervasio
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Girard
authors.forename: Julie
authors.initials: J
authors.lastname: Turnbull
authors.forename: Maria Laura
authors.initials: ML
authors.lastname: Del Basso-De Caro
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D000293:Adolescent; D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics; D003712:Dendrites / Q000473:pathology; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D020192:Lafora Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D008854:Microscopy, Electron; D009154:Mutation; D012640:Seizures / Q000235:genetics / Q000473:pathology*; D013194:Staining and Labeling; D013226:Status Epilepticus / Q000235:genetics / Q000473:pathology*; D044767:Ubiquitin-Protein Ligases; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases