We monitored cerebral blood volume (CBV) using near-infrared spectroscopy (NIRS) of two patients with symptomatic localization-related epilepsy who had no epileptic discharges in ictal scalp EEG. Case 1 was a 9-month-old boy who was suspected to have frontal lobe epilepsy. Although epileptic discharges were not identified on his ictal EEG due to motion artifacts, NIRS demonstrated an increase of CBV of the left brain during the seizure. Ictal single photon emission CT (SPECT) was dominant at the left side. Case 2 was a 3-year-old girl who was suspected to have temporal lobe epilepsy. Ictal EEG tracings, theta waves revealed prominent but did not enable identification of the focus. She had cortical dysplasia in the right cerebral hemisphere. NIRS monitoring demonstrated an increase in CBV in the right frontal region, which began 10 minutes before the seizure onset and lasted for 3 hours. Thus NIRS is a sensitive and non-invasive procedure for monitoring CBV changes during the seizure, and is useful in identification of the epileptic focus.

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Duchenne/Becker muscular dystrophy (DMD/BMD) are the most common inherited muscular diseases caused by mutations in the dystrophin gene. The identification of novel dystrophins in the brain has recently implicated its absence or malfunction etiologically in mental retardation (MR). We therefore examined the relationship between molecular abnormalities and clinical phenotypes. Deletions of the dystrophin gene were analyzed in a total of 137 DMD/BMD patients (DMD 94, BMD 43) to determine central nervous system (CNS) symptoms. The mental capacity was assessed and patients with IQs below 70 were defined as mentally retarded. Thirty-nine percent of DMD boys and 12% of BMD patients were classified as mentally retarded. Eight DMD and 2 BMD patients were diagnosed as having autism. Forty-four percent of DMD and 79% of BMD patients had deletions in the dystrophin gene. All the DMD/BMD patients with deletions upstream of the 5' end of the gene were mentally normal. All of DMD/BMD patients with MR and/or autism had deletions containing the 3' end, although some patients with similar deletions were mentally normal. Our data suggest that Dp140, Dp71 and/or Dp116, the C-terminal translational products of dystrophin, may be related to MR and/or autism in DMD/BMD. However, there was an exception in our series. Three of eight sibling pairs in our cases had different phenotypes, although they had the same mutations in the dystrophin gene. Thus the CNS phenotypes were not determined by the mutations of dystrophin gene alone, and the interaction of dystrophin with other nuclear genes may play important roles.

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We reported 50 cases of mild to moderate trigonocephaly (most isolated type) treated by cranioplasty. All of them had clinical symptoms such as severe hyperactivity, speech delay, inability to communicate with others, self-mutilation (head banging), irritability, temper tantrum and mental retardation. Pre-operative CT scan and MRI showed no abnormal findings in the brain except for constricted frontal lobes. The 3 D-CT scan showed the most important diagnostic findings: a ridge of the metopic suture and narrow anterior fossa. TcECD SPECT was performed on 43 patients, and demonstrated in 31 cases some degree of decreased cerebral blood flow (CBF), mainly in the bilateral frontal lobes.
Post-operatively, most patients improved to some degrees. The results were compared to those of trigonocephaly patients without cranioplasty. The operated group showed better improvement in the above clinical symptoms, especially, hyperactivity, indifference to others, understanding of verbal communication, selfmutilation, irritability and temper tantrum.
The post-operative SPECT represented the increased CBF in 30 out of the 31 cases. MRI and CT scan revealed expanded frontal lobes.
Thus, cranioplasty may alleviate the symptoms of patients with mild to moderate trigonocephaly and developmental disorders.

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We retrospectively studied 18 patients with West syndrome treated with ACTH according to Fukuyama's method. ACTH was given daily for the first 2 weeks, once every other day for the 3rd and 4th weeks, twice for the 5th and 6th weeks, and once a week for the 7th and 8th weeks. The patients were classified into two groups; group 1 (n=9), in which Fukuyama's method was competed by a total of 27 injections; and group 2 (n=9), in which Fukuyama's method was discontinued due to its adverse effects. In group 2, the duration of ACTH therapy was 15 days on average, and shorter than that in group 1.
Between the two groups, there was no significant difference in the control rate of clinical seizures, and in the duration of therapy to attain seizure control (6 to 8 days on average). These results suggest that the tapering period is unnecessary after the cessation of spasms.

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Twenty patients with West syndrome were initially treated with high-dose vitamin B₆ (40 to 50 mg/kg/day) and valproate (40 to 50mg/kg/day). Three became seizure free. For the remaining 17 patients, lowdose synthetic ACTH (0.01mg [0.4 IU]/kg/day) was added to the regimen. One month after the end of ACTH therapy, 13 patients were seizure free. Thus 16 patients in total (80%) were free of seizures (group A). The treatment was ineffective for the remaining 4 patients (20%; group B). During the following for a mean period of 64 months (range, 48 to 83 months), 9 in group A had a relapse of epileptic seizures. However, only 4 in this group had epileptic seizures at the end of the study (5-7 years of age), all of which were partial and infrequent. In group B, two had frequent intractable seizures, and one was seizure free at the end of the study. One died at the age of 1 year.
In group A, 2 patients showed normal or subnormal mental development. Mild, moderate and severe mental retardation were seen in 3, 4 and 7 patients respectively. In group B, all patients showed severe mental retardation.
In this study, the rate of evolution into intractable epilepsy was low, but long-term mental development was poor. Seizure control by itself seemed to be insufficient to improve long developmental prognosis of West syndrome.

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We report here the results of developmental consultation carried out at Yokohama City health welfare offices. From October 1992 to March 1998, we consulted 666 cases aged 1 to 56 months old. We made full use of the reflex rolling I of Vojta for therapeutic diagnosis, and conducted physical training for babies. The reflex rolling I was very useful in diminishing the mother's anxiety about nursing problems such as weak suckling, sleep disturbance and constipation. Since it is important to combine the early detection of impairments with the support for nursing, advices to achieve better development were given to the parents and children. In our developmental consultation we could select babies at risk early and thereby start therapy for them smoothly.

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Twenty-six children with idiopathic toe-walking (ITW) were evaluated as to their neurodevelopmental outcome by means of a follow-up study. The ages of the subjects at the last follow-up ranged from 3 years and 4 months to 14 years and 10 months (mean: 7 years and 4 months). The neurodevelopmental outcome in the subjects was normal intelligence in 22 (of which 5 were clumsy and 4 were hyperkinetic), and border-line intelligence in 4 (of which 2 were clumsy). Thus, 13 of the 26 cases (50%) had neurodevelopmental problems including clumsiness and hyperkinesia. It is noteworthy that there was a high rate of the neurodevelopmental problems among the children with ITW. The clinical course of children with ITW should be carefully followed-up, and the appropriate care and intervention should be given to them, when the children are found to have these problems.

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We report two siblings with eyelid myoclonia with absences. Patient 1, a 7-year-old boy, visited us be-cause of eyelid blinking resembling a tic. He had experienced the movements since 2 years old. The diagnosis of a simple motor tic was initially made, however, the episodes worsened gradually. Patient 2, a younger brother of patient 1, was a 5-year-old boy. His eyelid blinking also began at age of 2 years. Additionally, the mother's aunt and her cousin had a history of grand mal on awakening, and the patient's cousin has feb-rile seizures.
Their clinical features were as follows;(i) eyelid myoclonia, described as rapid, rhythmic eyelid flutter-ing with upward jerking of the eyes and head, lasting for 1-2 seconds;(ii) it occurred frequently each day;(iii) when it lasted for more than 2-3 seconds, it was associated with absences ;(iv) both hyperventilation and photic stimulation on 18 f/c induced clinical seizures; and (v) ictal EEG revealed 3-4 c/s generalized irregular spike-waves with a duration of 1-3 seconds.
Based on these characteristics, a diagnosis of eyelid myoclonia with absences was made. The present cases are the first sibling cases reported in Japan and, according to their family history, a genetic predisposi-tion should be considered.

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We reported a 10-year-old boy with narcolepsy, the onset of which was at the age of 8 years and 6 months. The initial symptom was excessive daytime sleepiness, followed by cataplexy and disrupted nocturnal sleep. There was neither hallucination nor sleep paralysis. A daytime polysomnogram showed a sleeponset rapid eye movement period (SOREMP), and human leukocyte antigen (HLA) analysis revealed HLA-DR2/DQB1*0602. Treatment with methylphenidate and clomipramine was effective; methylphenidate (30mg/day) improved his wakefulness and alertness throughout the day, and clomipramine (20mg/day) reduced the number of cataplexic episodes.
Because of their abnormal behavior, prepubertal narcoleptic children may often be misdiagnosed as having epilepsy or an attention deficit hyperactivity disorder. Therefore, they need early diagnosis and treatment. Assistance should be provided to protect them from being labeled as lazy by their parents and school teachers.

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We report a 14-year-old girl with carbamazepine intoxication who developed alpha coma and status epilepticus.
She fell into deep coma and developed frequent generalized convulsions. The EEG during coma showed diffuse alpha activity predominantly in the frontal area. Serum carbamazepine concentration was 42.8μg/ m l. The convulsions were suppressed by diazepam only transiently, and by midazolam completely. Although half a day had passed since carbamazepine ingestion, we could wash out much of drug remnants by gastric lavage. Thereafter, the serum concentration of carbamazepine decreased efficiently and the patient recovered dramatically without complication.
Early diagnosis and appropriate treatments should improve the prognosis of carbamazepine intoxication.

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[in Japanese]

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