Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.
Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.
Giovannini
Simona
S
Neuropsichiatria Infantile, Ospedale Maggiore, Bologna, Italy. giovanninisimona@libero.it
Frattini
Daniele
D
Scarano
Angela
A
Fusco
Carlo
C
Bertani
Gianna
G
Della Giustina
Elvio
E
Martinelli
Paola
P
Orteschi
Daniela
D
Zollino
Marcella
M
Neri
Giovanni
G
Gobbi
Giuseppe
G
D002648:Child; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D012303:Ring Chromosomes; D012640:Seizures / Q000150:complications / Q000503:physiopathology*; D012890:Sleep / Q000502:physiology; D013226:Status Epilepticus / Q000235:genetics / Q000503:physiopathology*; D014851:Wakefulness / Q000502:physiology