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Adrenoleukodystrophy, an X-linked recessive disorder characterized by progressive demyelination of the central nervous system and adrenal insufficiency, usually manifests at 4-8 years of age. We report a 20-month-old male who presented with the sudden onset of status epilepticus and cortical blindness; initially, he had complete resolution of these findings, but experienced a relapse 3 months later. The initial computed tomographic scans depicted cerebral edema and possible "watershed infarcts:" however, over the next 2 weeks before discharge from the hospital, the cortical blindness and ataxia both resolved. During the next 2 months, he exhibited no symptoms: he had no seizures and his neurologic examinations were normal. Three months after the initial hospitalization, he developed what the mother believed was "a weakness on his right side." Magnetic resonance imaging confirmed severe white matter disease. Adrenoleukodystrophy was clinically suspected and an assay of plasma levels confirmed an elevation of C26 long-chain saturated fatty acid levels. After the patient's diagnosis of adrenoleukodystrophy was confirmed, long-chain fatty acid levels were obtained on his 5-year-old brother and his mother. This child had the earliest known onset of X-linked adrenoleukodystrophy.

Twenty-five pediatric patients with serum valproate levels above 100 micrograms/ml (therapeutic range: 50-100 micrograms/ml) are reviewed for nondose-related side effects and seizure control. The dose of valproate varied from 50-100 mg/kg/day. All patients had generalized or mixed seizure disorders which were difficult to control. Seizure frequency decreased by more than 50% in 14 patients. For those patients with improved control, valproate levels ranged from 111-196 micrograms/ml. Patients were carefully monitored for side effects; nondose-related side effects were not encountered. Random valproate levels were between 100-200 micrograms/ml. The clinical response to valproate can be augmented by increasing it to the maximum tolerated dose.

A study is presented of 15 pediatric patients treated with imipramine for uncontrolled seizures during the past two years. Of these patients, 53% had an initial reduction of seizures of greater than 80%. At one year, 26% were still seizure-free. Drop attacks were especially responsive to therapy; 100% (7/7) responded initially to imipramine therapy. Most patients studied had been receiving valproate and another major antiepileptic drug prior to imipramine therapy. This study confirms previous reports and suggests that the use of imipramine in combination with other antiepileptic drugs provides excellent results, particularly in patients with drop attacks.

Forty-nine children and adolescents whose seizures reportedly worsened while receiving carbamazepine (CBZ) were studied retrospectively. Twenty-six patients met criteria for excellent documentation of carbamazepine-exacerbated seizures. Four epileptic syndromes were particularly affected: childhood absence epilepsy; focal symptomatic, frontal lobe epilepsy; Lennox-Gastaut syndrome; and severe myoclonic epilepsy of infancy. Eight of the 26 patients developed new-onset absence seizures and three patients with established absence epilepsy experienced absence status. Other seizure types, including atonic, tonic-clonic, and myoclonic, developed in eight patients treated with CBZ, and new generalized spike-and-wave discharges were observed in electroencephalograms of nine patients. CBZ is a widely used, effective antiepileptic drug, particularly for partial or partial complex seizures; however, if uncontrolled, generalized seizures occur after CBZ is prescribed for children or adolescents with absence or mixed seizures, a trial of CBZ discontinuation is warranted. The data reported here do not permit calculation of the incidence of this phenomenon.

A 4-year-old male developed encephalitis 2 weeks after the onset of varicella. During his evaluation neuroradiologic procedures documented cerebellar edema and demyelination. Cerebrospinal fluid titers confirmed varicella encephalitis. To our knowledge, this patient is the first reported with focal cerebellar edema, an expected finding, with a clinical varicella infection as documented by computed tomography and magnetic resonance imaging.

Severe myoclonic epilepsy of infancy (SMEI) is a recently identified seizure disorder with a uniformly poor prognosis. No successful therapy has been found for this disorder. Based on the treatment of 7 patients who qualified for the diagnosis in this report, SMEI has a better prognosis than recognized currently. All 7 patients were responding poorly to phenobarbital, phenytoin, or carbamazepine. Six of them responded to valproate. Two patients became seizure-free during valproate monotherapy. A succinimide was required as a second antiepileptic drug in 3 patients to achieve seizure control. Repeated episodes of "febrile status epilepticus" in 2 patients were controlled with lorazepam. Five of 7 patients are doing significantly better than the literature would suggest is possible. Seizure control can be achieved in SMEI with aggressive use of drugs which are beneficial for myoclonic seizures. Traditional drugs for tonic-clonic seizures are of little or no benefit in SMEI.