Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey.

Objectives: To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan.

Methods: A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data.

Results: Among 39 patients whose diagnosis was confirmed molecularly or by the 3-O-methylglucose uptake assay, 31 were treated with KDs for longer than 1month.

Which is the most appropriate disconnection surgery for refractory epilepsy in childhood?

Children with unilobar or multilobar pathology issuing in refractory epilepsy are potential candidates for surgical treatment. Extensive surgery results in good seizure control, but it also increases the risk of neurological deficits as well as motor and mental problems. We reviewed the cases of 19 children with refractory epilepsy treated surgically at Osaka University Hospital.

Oral mexiletine for lidocaine-responsive neonatal epilepsy.

We report a patient with lidocaine-responsive neonatal epilepsy treated successfully with oral mexiletine. The patient was a male neonate who had seizures since 2days of age. While his seizures were refractory to phenobarbital, lamotrigine, vitamin B6, and midazolam, they were controlled by continuous lidocaine infusion.

Tacrolimus-related encephalopathy following allogeneic stem cell transplantation in children.

Tacrolimus is a potent immunosuppressive drug widely used to prevent and treat graft-versus-host disease (GVHD) in stem cell transplantation (SCT). Among 49 patients receiving tacrolimus who underwent SCT from January 2000 to July 2003, 10 patients (20%) developed encephalopathy. The commonly observed symptoms were convulsions and drowsiness, and most patients complained of signal symptoms such as headache, nausea, and cortical blindness before onset.

[Liposteroid therapy for refractory epileptic spasms].

Liposteroid was administered intravenously to 6 patients with refractory epileptic spasms. In one case, the spasms initially disappeared but then reappeared after three months. Another case had a transient and slight decrease of epileptic spasms.

[Multicenter study of occipital lobe epilepsy in childhood: clinical characteristics].

We investigated the clinical characteristics of 54 patients with childhood onset occipital lobe epilepsy (OLE). There were 25 patients of symptomatic OLE (cortical dysplasia, post encephalitis or encephalopathy, brain tumor and so on), and 29 cases of cryptogenic OLE. Eighteen patients had positive visual symptoms such as flash light, bright spots and sparks of light, 23 patients had negative ones such as scotoma, hemianopia and amaurosis and 10 patients had other complicated visual symptoms such as change of the shape or colors.