TY - JOUR
T1 - 22-year-old girl with status epilepticus and progressive neurological symptoms
AU - Striano, Pasquale
AU - Ackerley, Cameron A.
AU - Cervasio, Mariarosaria
AU - Girard, Jean Marie
AU - Turnbull, Julie
AU - Del Basso-De Caro, Maria Laura
AU - Striano, Salvatore
AU - Zara, Federico
AU - Minassian, Berge A.
PY - 2009/10
Y1 - 2009/10
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1750-3639.2009.00308.x
DO - 10.1111/j.1750-3639.2009.00308.x
M3 - Article
C2 - 19744044
AN - SCOPUS:69949123471
SN - 1015-6305
VL - 19
SP - 727
EP - 730
JO - Brain Pathology
JF - Brain Pathology
IS - 4
ER -