[Case of Sturge-Weber syndrome manifesting complex partial status epilepticus].

A three-year-old boy presented with status epilepticus with right hemiconvulsion and complex partial status epilepticus (CPSE) that were preceded by disturbance of consciousness and right hemiplegia just after a traumatic head injury. He was diagnosed as Sturge-Weber syndrome (SWS) because of the presence of a small cutaneous port-wine nevus and the nature of his MRI findings. The nevus was located in the middle of the forehead and was light in color. Intravenous drip infusion of lidocaine was effective for the treatment of CPSE, but the patient has experienced refractory complex partial seizures since then. It has not yet been reported that patients with SWS developed CPSE following head trauma, although it is known that patients with SWS can manifest convulsive status epilepticus. CPSE should be recognized as one of the seizure types of SWS.

[A case of benign neonatal sleep myoclonus].

We report on a male infant with benign neonatal sleep myoclonus (BNSM). At 12 days of age, he began to have frequent myoclonic jerks in the lower and/or upper extremities during sleep. Myoclonic jerks appeared bilaterally/synchronously and persisted for several minutes to 10 minutes. Both interictal and ictal EEG findings were normal. During follow-up, the patient did not take any medication, and his myoclonic jerks gradually decreased. They completely disappeared at 50 days of age. The patient's development was normal. BNSM is a benign disorder and myoclonic jerks generally disappear without medication. Early diagnosis is important to avoid unnecessary treatment. EEG-EMG recording is useful for diagnosis.

Three patients manifesting early infantile epileptic spasms associated with 2q24.3 microduplications.

BACKGROUND: Recent development of genetic analyses enabled us to reveal underlying genetic causes of the patients with epileptic encephalopathy in infancy. Mutations of voltage-gated sodium channel type I alpha subunit gene (SCN1A) are to be causally related with several phenotypes of epilepsy, generalized epilepsy with febrile seizure plus (GEFS+), Dravet syndrome, and other infantile epileptic encephalopathies. In addition to SCN1A, contiguous genes such as SCN2A and SCN3A in 2q24.3 are also reported to have contribution to epileptic seizures. Therefore, gene abnormality involving this region is reasonable to contribute to epilepsy manifestation. RESULTS: We encountered three patients with 2q24.3 microduplication diagnosed by Array comparative genomic hybridization array (aCGH). They developed partial seizures and epileptic spasms in their early infantile periods and showed remarkable developmental delay, although their seizures disappeared from 11 to 14 months of age. One of three patients had 2q24.3 microduplication which excludes SCN1A. Therefore, characteristics of epilepsy with 2q24.3 microduplication do not necessarily need duplication of SCN1A. This study suggested that 2q24.3 microduplication is one of the causes for early infantile epileptic spasms. Epileptic spasms associated with 2q24.3 microduplications may have better seizure outcome comparing with other etiologies.

Prognosis after withdrawal of antiepileptic drugs in childhood-onset cryptogenic localization-related epilepsies.

The purpose of this study was to clarify the risk factors of relapse following discontinuation of AEDs in patients with childhood-onset cryptogenic localization-related epilepsies. The subjects were 82 patients who fulfilled the following criteria: (1) age at first visit of less than 15 years, (2) follow-up period of more than 5 years, (3) suffering from cryptogenic localization-related epilepsies, and (4) the patient underwent AED withdrawal during the follow-up period. As a basic principle, we decided to start withdrawing AEDs when both of the following two conditions were met: (1) the patient had a seizure-free period of 3 years or more, and (2) there were no epileptic discharges on EEGs just prior to the start of withdrawal. Seizures recurred in eight of the 82 patients (9.8%). Univariate analysis revealed that the following factors were correlated with higher rates of seizure relapse: 6 years of age or higher at onset of epilepsy; 15 years of age or higher at the start of AED withdrawal; 5 years or more from the start of AED treatment to seizure control; five or more seizures before seizure control; and two or more AEDs administered before seizure control. Among these risk factors, 6 years of age or higher at onset and 5 years or more from the start of AED treatment to seizure control were determined by multivariate analysis to be independent risk factors for relapse. Thus, we conclude that the physician should be more careful in discontinuing AEDs in these higher-risk patients groups, and more generous in discontinuing AEDs in lower-risk groups.

Childhood-onset epilepsy associated with polymicrogyria.

To study the electroclinical characteristics of patients with childhood-onset epilepsy who showed polymicrogyria (PMG) on MRI, we classified 15 patients according to the location of PMG on MRI. The composition of the subjects was as follows: four patients with PMG in both hemispheres; three with localized PMG in one hemisphere associated with other lesions such as porencephaly; and eight with only localized PMG in one hemisphere. We investigated the electroclinical characteristics of the epileptic syndromes associated with these different types of PMG. Four patients suffered from infantile spasms during their clinical course. Five patients suffered from epilepsy with electrical status epilepticus during slow sleep (ESES) and ESES-related epilepsy. The other six patients had only localization-related epilepsy throughout their clinical course. Patients with PMG in both hemispheres, and localized PMG in one hemisphere associated with other lesions tended to have early-onset intractable seizures, especially infantile spasms. On the other hand, patients with only localized PMG in one hemisphere had ESES and ESES-related epilepsy or localization-related epilepsy, and their seizure prognosis was relatively favorable. These findings are useful in predicting the outcome of patients with PMG.