Paediatria Croatica, Vol. 55 No. 2, 2011.
Stručni rad
DIFFERENTIAL DIAGNOSIS OF GRAND MAL SEIZURES DURING PUBERTY IN NEUROLOGICALLY HEALTHY CHILDREN
Ljiljana Popović Miočinović
; Centar Goljak
Mirjana Mladin Čikara
Katarina Bošnjak Nađ
Sažetak
Epileptic syndromes that occur during puberty with grand mal (GM) seizures can present a diagnostic problem. The beginning of the disease is often marked by "big attack". Juvenile myoclonic epilepsy (JME) in puberty is first characterized by the occurrence of myoclonic jerks mostly in the hand, then by GM, and more rarely by typical absence seizures. The aim is to describe the course of the same disease, JME, in a sister and brother but with a different diagnostic approach, and consequently different therapeutic success. The sister was found to have a GM attack during afternoon nap at the age of 14 years. She was first diagnosed with partial epilepsy with secondary generalization and then with generalized epilepsy. During two years of treatment with topiramate, GM did not recur, routine EEG did not show any epileptiform changes and she was not motivated to continue treatment, so she sought a second opinion. Medical documentation revealed a permanently neglected problem of objects "falling out" of her hand in the morning, especially after sudden awakening or short sleep. We used video EEG with provocation methods (morning awakening and active manipulation of objects with both hands) to record myoclonic hand jerks along with ictal EEG. We diagnosed JME, introduced valproate as the first choice drug (several drug combinations were tried later), but control of myoclonic seizures was never achieved. We did targeted search for "small" seizures in other family members. Shortly thereafter, "blinking" episodes were noticed in the brother, then aged 13.5; myoclonic jerks in his hands were recorded by diagnostic evaluation and video EEG, and valproate therapy was introduced. Seizures were completely stopped. Epileptic syndrome did not manifest the full clinical picture. The GM seizures would have likely prevented the boy from pursuing his desired professional athlete career. In conclusion, undetected and for a long time inappropriately treated JME in the sister resulted in inability to achieve complete seizure control. In her brother, complete seizure control was achieved by early introduction of appropriate JME treatment.
Ključne riječi
Descriptors: DIAGNOSIS, DIFFERENTIAL; SEIZURES – diagnosis, therapy; PUBERTY; CHILD
Hrčak ID:
74346
URI
Datum izdavanja:
16.6.2011.
Posjeta: 6.330 *