Background: The Atkins diet modified for epilepsy patients (modified Atkins diet: MAD) was reported to be a substitute for the classical ketogenic diet. Recently, it has been shown that this diet is effective not only for intractable childhood epilepsy but also for intractable adulthood epilepsy and Glut 1 deficiency syndrome. In Japan, this diet is difficult to promote, because the menu and the taste are not suitable for Japanese and side effects of this unbalanced diet remain unclear. Methods: To promote this therapy in Japan, the recipes of MAD were modified to adapt to the Japanese population, and evaluated in 10 healthy adult volunteers for 1 week. Subjects' evaluation for taste and hunger, as well as urinary and blood laboratory examinations were analyzed. Results: All volunteers evaluated the diet menu as sufficiently palatable, and continued the diet without difficulty for 1 week. However, they felt uneasy with the fatty menu and complained of constipation that was within tolerable levels. As for urinary ketone bodies measured by ketostick, four and six volunteers were 2 to 4+ and 1 to 2+, respectively at the end of the trial. Side effects including variable degrees of weight loss, hypoglycemia, hypercholesterolemia, and hyperuricemia were observed in all subjects. Conclusion: MAD can be used more comfortably as a substitute for the classical ketogenic diet, if the recipes are adapted for Japanese population. The diet would result in a sufficient level of ketosis since our adult volunteers developed mild to moderate ketosis despite only one-week trial without starvation. The long-term side effects should be carefully monitored because even the short-term trial results in some metabolic changes.
Purpose: We investigated the usefulness of 123I-iomazenil (IMZ-) SPECT to detect epileptic foci in children with symptomatic focal epilepsy (SFE). Subjects: 21 children with SFE who underwent IMZ-SPECT to identify the epileptic focus were studied. Methods: We retrospectively compared the localization and lateralization of epileptic foci obtained from visualization of IMZ-SPECT images and those speculated based on a combination of clinical manifestations, EEG findings, and brain MRI. We then verified the concordance of the results between the two methods. Results: There was concordance in both lateralization and localization in 9⁄12 patients with temporal lobe epilepsy (75%), in 2⁄5 patients with frontal lobe epilepsy (40%), and in 2⁄4 patients with parieto-occipital lobe epilepsy (50%). Overall, the epileptic foci detected by IMZ-SPECT was consistent with those speculated based on other findings at least in 13 of 21 patients (62%) with SFE. Discussion: As IMZ-SPECT is a potentially useful method for detecting epileptic foci, we should accumulate cases to verify the limitations and appropriate application of this method in the diagnosis of childhood SFE.
Pyridoxine dependence is a very rare inborn error of metabolism. The disorder develops mainly during the early neonatal period, and cases diagnosed in infants are even rarer. We herein report a case of a 77-day-old boy with status epilepticus diagnosed with pyridoxine dependence. On day 2 after birth, the boy required respiratory management after entering a partial convulsive state. The convulsions did not respond to phenobarbitals and were temporarily controlled by continuous intravenous administration of midazolam. Subsequently, partial seizures occurred frequently, and the patient was observed under treatment with oral phenobarbital and phenytoin, and intravenous midazolam. However, at 65 days of age, partial convulsions of the right upper and lower limbs lasting for one minute occurred episodically in clusters every few to ten minutes. A high dose of phenobarbital was administered and the blood concentration increased to 42 μg/ml, but convulsions were not controlled. At 77 days of age, when 100 mg of pyridoxine was slowly injected intravenously during electroencephalography, the background activity flattened and spikes disappeared. Pyridoxine dependence was diagnosed and all antiepileptic agents were discontinued. Oral administration of pyridoxine at 10 mg/kg/day was started and seizures no longer occurred. Pyridoxine dependence is a treatable inborn error of metabolism. To obtain a diagnosis of pyridoxine dependence, trial administration of pyridoxine is essential, and the pyridoxine test for a definitive diagnosis should also be conducted in cases of status epilepticus during infancy.