22-year-old girl with status epilepticus and progressive neurological symptoms.
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.
Striano
Pasquale
P
Ackerley
Cameron A
CA
Cervasio
Mariarosaria
M
Girard
Jean-Marie
JM
Turnbull
Julie
J
Del Basso-De Caro
Maria Laura
ML
Striano
Salvatore
S
Zara
Federico
F
Minassian
Berge A
BA
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
D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases