Interictal cerebral blood flow abnormality in cryptogenic West syndrome.

PURPOSE: To elucidate the abnormality of interictal regional cerebral blood flow (rCBF) of West syndrome at the onset. METHODS: Quantitative measurement of rCBF with an autoradiography method using N-isopropyl-((123)I) p-iodoamphetamine single photon emission computed tomography (SPECT) was performed on 14 infants with cryptogenic West syndrome. Regions of interest (ROIs) for rCBF were placed automatically using an automated ROI analysis software (three-dimensional stereotactic ROI template), and were grouped into 12 segments: callosomarginal, precentral, central, parietal, angular, temporal, posterior cerebral, pericallosal, lenticular nucleus, thalamus, hippocampus, and cerebellum. We compared rCBF between the patients and seven age-matched infants with cryptogenic focal epilepsy as a control group. The patients were divided into two groups according to the duration from onset to SPECT, to compare rCBF. RESULTS: Quantitative analysis revealed cerebral hypoperfusion in cryptogenic West syndrome with normal SPECT images under visual inspection. In bilateral central, posterior cerebral, pericallosal, lenticular nucleus, and hippocampus, and in the left parietal, temporal, and cerebellum, and in the right angular and thalamus segments there were statistical differences (p < 0.05). Compared with the duration from onset to SPECT, there were no significant differences of rCBF in all segments. DISCUSSION: Broad cerebral hypoperfusion with posterior predominance involving the hippocampus and lenticular nucleus implies that even cryptogenic West syndrome has a widespread cerebral dysfunction at least transiently, which would correspond to clinical manifestations of hypsarrhythmia and epileptic spasms. Hippocampal hypoperfusion suggests the dysfunction of hippocampal circuitry in the brain adrenal axis, and may contribute to subsequent cognitive impairment of cryptogenic West syndrome.

Iomazenil hyperfixation in single photon emission computed tomography study of malformations of cortical development during infancy.

We present 2 cases of malformations of cortical development and early onset epilepsy. The first case is of a patient with left hemimegalencephaly who developed focal epilepsy at the age of 2 days and cluster spasms at 1.5 months. After left functional hemispherectomy, seizures originated from the contralateral hemisphere, which had shown normal signals in the preoperative magnetic resonance imaging study. The second case is of a patient with lissencephaly, caused by a missense mutation in the doublecortin gene, who developed West syndrome at the age of 5 months. In both the cases, (123)I-iomazenil single photon emission computed tomography performed during infancy showed significant hyperfixation in the dysplastic lesions. This finding indicates the immaturity of the affected neurons and a gamma-aminobutyric acidergic involvement in epileptogenesis associated with malformations of cortical development during infancy.

Effectiveness and safety of non-intravenous high-dose phenobarbital therapy for intractable epilepsy during childhood.

High-dose phenobarbital (PB) therapy is effective for refractory status epilepticus. We reviewed medical records of patients with intractable partial epilepsies on whom performed non-intravenous high-dose PB therapy. Thirteen patients received PB rectally or orally at a dosage of 20-30mg/kg/day initially, and the PB dosage was gradually reduced to a maintenance dosage of 5-10mg/kg/day orally. We evaluated the effectiveness and safety of this procedure after 14days at the maintenance dosage level. Twelve patients had partial seizures and one had secondary generalized seizures. In six of 13 patients (46%), seizure frequencies decreased more than 50%, and two of 13 patients (15%) became seizure free. In five of seven patients who were treated by continuous midazolam infusion therapy, we were able to discontinue the midazolam therapy. Adverse effects were found in seven of 13 patients. We were able to continue high-dose PB therapy in six patients because their adverse effects were transient and improved after a decrease in PB concentration, but we discontinued this therapy in the patient who developed Stevens-Johnson syndrome. Respiratory depression and hypotension were not found in our study. We conclude that high-dose PB therapy is effective and may be considered as an additional treatment for intractable partial epilepsy in childhood.