Cortical ependymoma. A case report and review.

The authors report a rare case of a cortical ependymoma in a 10-year-old boy. The patient presented with complex partial seizures and a well-circumscribed, right frontal cortical mass. Routine microscopy showed a glial tumor with diverse histologic features. Immunohistochemistry and electron microscopy were required to establish the definitive diagnosis of cortical ependymoma. Cortical-based pediatric brain tumors range from World Health Organization grade I to III lesions and require significantly different treatment and follow-up. This case illustrates the importance of establishing an accurate neuropathologic tissue diagnosis of all pediatric cortical tumors.

Stimulus-induced drop episodes in Coffin-Lowry syndrome.

OBJECTIVE: Coffin-Lowry syndrome (CLS) is a rare disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering digits, and skeletal deformity. Paroxysmal drop attacks occur in patients with CLS, characterized by sudden loss of muscle tone induced by unexpected tactile or auditory stimuli. Our objective is to characterize these attacks better using neurophysiologic studies. METHODS: We report 2 teenage boys with CLS and stimulus-induced drop episodes (SIDEs). Simultaneous surface electromyogram (EMG) and video electroencephalogram were performed during SIDEs on our 2 patients. RESULTS: Both patients had SIDEs stimulated by a loud noise, unexpected light touch stimulation, or visual threat that were characterized by abrupt episodes of complete or partial loss of lower extremity tone. These events were not associated with impairment of consciousness, and immediate recovery was noted. Simultaneous surface EMG and video electroencephalogram revealed no epileptiform discharges in either patient. In the first patient, after unexpected tactile or auditory stimulation, tonic EMG activity in paraspinal muscles was lost briefly, similar to that seen in cataplexy. In the second patient, at 6 years of age, sudden nonepileptic drop episodes were induced by an unexpected tactile, auditory, or visual stimulation. At 11 years of age, his episodes had changed to brief myoclonic jerk and tonic spasm that were triggered by unexpected tactile and auditory stimuli. An increase in tonic EMG activity occurred during the attacks, consistent with hyperekplexia. CONCLUSIONS: Our data suggest that SIDEs in CLS are a heterogeneous group of nonepileptic events that may manifest features of both cataplexy and hyperekplexia, even in the same patient.

Short duration of benign partial epilepsy in infancy.

It has previously been reported that benign partial epilepsy in infancy constitutes up to 29% of the epilepsies presenting in the first 2 years of life. To determine the proportion of benign partial epilepsy in our epilepsy population, we retrospectively reviewed 331 patients with greater than two afebrile seizures in the first 2 years of life between 1993 and 2000. Inclusion criteria were (1) partial seizures with or without secondary generalization, (2) normal development, (3) no other neurologic abnormalities, (4) normal interictal electroencephalograms (EEGs), and (5) good response to treatment. Exclusion criteria included seizures that (1) were caused by acute central nervous system insult, (2) occurred only within the first month of life, and (3) lasted longer than 30 minutes. Of 331 patients, 22 (6.6%) fulfilled the criteria with a minimum of 2 years and a mean of 4 years of follow-up off antiepilepsy drug treatment. Six (27%) had complex partial seizures, and 16 (73%) had complex partial seizures with secondary generalization. Neuroimaging studies were normal in all patients. Of the 6 patients with ictal EEGs, 3 had a temporal lobe focus, 1 had an occipital lobe focus, and the remaining 2 had dual foci. Median onset was 4.0 months (range 0.8-9.3). Seizures remitted within 4 months in 20 (91%). Mean duration of seizure persistence was 2.1 months (range 0-8.3) and was longer in treated patients. Median age at last seizure was 6.4 months (range 2-18). Nineteen were treated with antiepilepsy drugs. At last follow-up (mean duration of 52.2 months), all patients were seizure free and off antiepilepsy drugs. Benign partial epilepsy in infancy is an epilepsy syndrome of short duration and is easily recognized using accepted classification criteria. Benign partial epilepsy in infancy appears to be an idiopathic localization-related epilepsy with a favorable prognosis. The incidence in our population is not as common as previously reported. Based on our findings, we suggest weaning of antiepilepsy drugs 6 months after seizure onset.