Michiko Hara

Treatment of Severe Myoclonic Epilepsy in Infants with Bromide and Its Borderline Variant

Summary: We studied the efficacy of bromides (BR) as add‐on therapy in 11 patients with severe myoclonic epilepsy in infants (SME) and in another 11 with the borderline variant of SME (BVSME). Study subjects were aged 8.5–183 months (mean 64.4 months). Longest duration of BR treatment was 37 months (range 4–37 months; mean 19.7 months). Eight of 22 (36%) of patients with generalized tonic‐clonic seizures (GTCS) had an excellent effect (>75% reduction in total seizure frequency or duration) and 9 (41%) had a moderate effect (50–75% reduction) 3 months after introduction of BR. Twelve months after initiation of BR, 5 of the patients with significant improvement were no longer responsive; ultimately, therefore, 6 had an excellent effect and 2 had a moderate effect. Of those with partial seizures (n=5) and myoclonic/absence seizures (n = 5), only 1 patient in each group showed a moderate effect at the 12‐month time‐point. Dosages and serum concentrations of BR ranged from 30 to 100 mg/kg (mean 58 mg/kg) and from 64 to 159 mg/dl (mean 101 mg/dl), respectively. Of the 12 patients experiencing side effects, including drowsiness, appetite loss, and skin rash, 1 required a reduction in BR dosage because of an extensive acneiform rash on the face. The results show that BR treatment holds promise for patients with SME and BVSME and should therefore be investigated further.

A case of Canavan disease: the first biochemically proven case in a Japanese girl

Canavan disease (CD) has only been diagnosed on autopsy or brain biopsy, however, specific biochemical markers, such as N-acetylaspartic acid (NAA) and aspartoacylase activity, have recently been described in CD. We report a case of CD having the above biochemical markers. High levels of NAA were found in her urine, serum and CSF. Fibroblasts did not exhibit aspartoacylase activity. Clinically, she presented progressive psychomotor retardation, cerebellar signs, pyramidal signs and relative megalencephaly. CT and MRI showed findings of leukodystrophy. The evoked potentials showed widespread involvement in the brainstem. Magnetic resonance spectra showed a high level of NAA in the white matter. In Japan, this case is the first of CD determined on the basis of biochemical markers.

Ito Syndrome (Hypomelanosis of Ito) as a Cause of Intractable Epilepsy

Ito syndrome, the so-called hypomelanosis of Ito named by Jelinek et d.,l dermatologists, was first described as incontinentia pigmenti achromians by a Japanese dermatologist, M. Ito in 1951 and 1952.2 Nowadays it is thought not to be a variant type of incontinentia pigmenti of Broch-Sulzberger but to be a distinct entity of the neurocutaneous syndrome. I t is characterized by the cutaneous whorled or linear hypopigmented macules and CNS symptoms such as mental retardation and epilepsy. We have eight patients with this syndrome, and six were associated with epilepsy which were all intractable. We discussed the cause of their intractabilities.

An association of subtotal cerebellar agenesis with organoid nevus—A possible new variety of neurocutaneous syndrome

A quite unique patient aged 13, characterized by a combination of organoid nevus on the left scalp and subtotal cerebellar agenesis accompanied by hypoplasia of the pons and midbrain, was reported. Cardinal clinical features consisted of nonprogressive cerebellar manifestations including intention tremor and ataxia, speech and visual disturbance and mental retardation. An electronystagmogram demonstrated periodic alternating nystagmus. A clinical diagnosis of cerebellar agenesis in this case was made through the demonstration of characteristic features in metrizamide CT and midline sagittal tomography of metrizamide cisternography of the posterior fossa. An extensive review of the literature revealed three papers dealing with organoid nevus associated with various neurological abnormalities, but no single case with a similar combination of cutaneous organoid nevus and cerebellar agenesis had been reported.

A questionnaire survey on the physician's principle concerning the immunization for patients with febrile convulsions

Benign epilepsy of children with complex partial seizures following febrile convulsions Kazuyoshi Watanabe, Izumi Takahashi, Tamiko Negoro, Kosaburo Aso and Kiyokuni Miura (Department of Pediatrics, Nagoya University School of Medicine, Nagoya, Japan) This study was presented for discussion to the meeting by invitation of the meeting organizer, although the study is already published as an original article in Seizure 1993;2:57-61.

Special task report: A proposed revision of the guideline for managing patients with febrile convulsions

Benign epilepsy of children with complex partial seizures following febrile convulsions Kazuyoshi Watanabe, Izumi Takahashi, Tamiko Negoro, Kosaburo Aso and Kiyokuni Miura (Department of Pediatrics, Nagoya University School of Medicine, Nagoya, Japan) This study was presented for discussion to the meeting by invitation of the meeting organizer, although the study is already published as an original article in Seizure 1993;2:57-61.