We studied the incidence and clinicoelectrographic features of partial seizures in 46 patients with absence epilepsy. Ten patients (21.7%) showed obvious partial seizure symptomes during the course. Five patients had absence attacks with partial seizure symptoms, the ictal EEGs being a generalized 3 Hz spike-wave burst complex preceded by focal discharges. These absence attacks may be partial seizures with secondary bilateral synchronization, which originated from the frontal lobe. Three patients initially had partial seizures related to the frontal lobe, followed by absence attacks 8 months to 2.6 years after the start of CBZ therapy. The appearance of absence attacks may have been triggered by CBZ administration. Two patients had partial seizures at the relapse of epilepsy after the discontinuation of AED therapy for childhood absence epilepsy. This change of seizure types may be associated with the CNS maturation, or with localized cortical hyperexcitability subsequent to the foregoing generalized seizures. The prognosis of absence attacks in the all patients were excellent, and comparable to that of typical absence attacks.
Our results suggest that localized cortical areas, especially the frontal lobe, are commonly involved in absence epilepsy. More detailed clinical observation is necessary to understand the pathogenesis of absence epilepsy.

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To reveal the role of cortical tubers in the pathophysiology of West syndrome associated with tuberous sclerosis, we studied their numbers and topography, focusing on the differences between patients with infantile spasms and without infantile spasms. We reviewed the clinical date on the seizure types, seizure evolution and developmental status of 13 patients: 8 patients with infantile spasms (the West syndrome group) and 5 patients without infantile spasms (the non-West syndrome group). The number, size and location of the cortical tubers were evaluated on 5 mm-thick T2-weighted MR images. The average number of cortical tubers of the West syndrome group was 11.4 per patient, being larger than that of the non-West syndrome group (7.8). The West syndrome group included two patients with only one tuber. The average number of the cortical tubers in the occipital lobes of the West syndrome group was 2.4, which was larger than that of the non-West syndrome group (0.8). From these results, a large number of cortical tubers, which suggest involvement of larger cerebral cortical regions, increase the possibility of the West syndrome in patients with tuberous sclerosis. On the other hand, some patients with only one or few cortical tubers developed West syndrome, which may suggest the presence of a region critical on the development of West syndrome. Our results also suggest that lesions in the occipital lobes might be more significant than those in other lobes. However, the results of this study are diverse, to some extent, which may have resulted from variable epileptogenicity of the cortical tubers. It is necessary to conduct further study, including a greater number of patients, to reveal topographic pathophysiology in West syndrome.

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We investigated the functional prognosis after traumatic diffuse axonal injury in children. We evaluated the status of the acute stage, as well as the functional independence measure (FIM) and intelligence quotient (IQ) at 4, 12, and 24 months after the injury.
Physical disabilities persisted in all but 1 case, but 5 cases could walk by themselves after 1 year. IQ at 2 years after the injury was 64 in one case, but between 81 and 100 in others. Concerning the higher cortical function, all cases showed memory disturbance. None developed epilepsy. All cases showed abnormalities on cerebral MRI. Five of the 7 cases showed EEG abnormalities. As to the course of recovery scaled by FIM and IQ, marked improvement was seen in 4 cases during the first 4 months, 3 cases during the first 1 year. After 1 year, the degree of improvement became slower in all. All cases showed learning disability at school.

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Total laryngectomy was successfully performed for the management of repetitive lower respiratory tract infections in three cases with severe motor and intellectual disabilities syndrome. The patients were thirteen, ten and nine years of age and had cerebral palsy, mental retardation and epilepsy which resulted from neonatal asphyxia and seizures. To treat repetitive lower respiratory tract infections, the patients underwent the operation at the age of nine years and a month, seven years and six months, and six years and eleven months, respectively. Postoperatively, the respiratory tract infections were remarkably reduced for two to four years.
Total laryngectomy is one of the best methods for the prevention of aspiration pneumonia, because it separates trachea and esophagus completely. The operation is indicated for children with influx of saliva into trachea and gastroesophageal reflux. The family should recognize that this operation causes permanent loss of voice and speech. The bronchoscopy, upper gastrointestinal tract barium studies and esophageal pH monitoring should be performed before the operation. Our cases fulfilled all of these indications.
Laryngectomy should be considered as an effective method of respiratory management for cases of severe motor and intellectual disabilities syndrome, although its application should be carefully examined from the point of improvement of quality of life for patients.

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Magnetic resonance images were carried out in the children with Down syndrome aged 2-4 years old compared with the values of the age-matched controls. The pons and cerebellar vermis were significantly smaller and the cerebral peduncles were narrower in Down syndrome. None of the patients showed delay of myelination. These findings suggest hypoplasia of the pons and cerebellum in Down syndrome.

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We studied the usefulness of melatonin for sleep disorders and emotional/ behavior disturbances of patients with developmental disorders. The efficacy and side effects of melatonin at bedtime were evaluated in 50 children and young adults with sleep disorders (3-28 years old, 41 males and 9 females, autism [AU] in 27 patients, mentally retardation [MR] in 20 patients, and severe motor and intellectual disability [SMID] in 3 patients). The sleep diorders consisted of various types of insomnia in 44 patients and of circadian rhythm sleep disorders in 6 patients. Thirty nine of the insomnia patients and 3 of the circadian rhythmsleep disorder patients experienced improvement in response to melatonin. In some cases, the efficacies were diminished after the daily medication of melatonin. With the emotional/behavior disturbances, excitabilities were often improved in cases whose sleep disorders were also improved. There was almost no change in contrariness, stereotyped behavior and in school/ workshop refusal. Melatonin at bedtime was efficacious in 42 of the 50 patients with sleep disorders. In 17 patients, there were side effects (residual drowsiness on the next morning, awakening in the middle of sleep, excitement after awakening and before going to sleep, etc.). But these side effects were not serious. The effects of melatonin were influenced by the type of sleep disturbances, the factors of the environment and the mental conditions. Taking side effects into account, we judged melatonin to be useful in 34 patients.

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We report here a boy suffering from muscle cramps in the right upper extremity. At 32 days of age, he developed purulent meningitis followed by paresis of the right upper extremity. From infancy he had intermittent episodes myoclonus-like involving the right hand. Since he also had true epileptic seizures withloss of consciousness, ocular deviation, and vomiting at 6 and 8 years of age, he was treated with anti-epileptic drugs as therapy for focal motor seizures. At 6 years of age, these episodes increased in frequency. The cramps spread from the right hand to involve the entire upper extremity with pain. At the age of 10, he was referred to Hirosaki University Hospital and was admitted. Using closed circuit television with continuous EEG and EMG monitoring we observed during his episodes repeated EMG abnormalities consisting of continuous discharges of polyphasic motor unit potentials, but no epileptic EEG discharges. We diagnosed these episodes as muscle cramp. His muscle cramps were controlled by medication with muscle relaxants and Chinese medicines. This case illustrates that the differential diagnosis between muscle cramps andeileptic seizures is important for proper treatment.

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A 3-month-old female baby was diagnosed as having Walker-Warburg syndrome (WWS), based on the following clinical findings: type II lissencephaly associated with marked ventricular dilatation, cerebellar malformation, retinal malformation, elevated serum creatine kinase level and abnormal muscle CT findings. She was a product of parents with consanguineous marriage. She presented with severe hypotonia and profound psychomotor retardation since birth. She developed infantile spasms at 8 months of age, and vitamin B6 was very effective. A genetic analysis revealed the absence of the founder haplotype commonly seen in Fukuyama-type congenital muscular dystrophy (FCMD), suggesting that the WWS gene is not always identical to the FCMD gene. When she was examined at the age of 4 years, she had no apparent further psychomotor development. Her clinical symptoms were more severe than those of the typical FCMD.

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Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant demyelinating peripheral neuropathy. Most patients with CMT1A including sporadic cases have been found to have a 1.5 megabase tandem DNA duplication in chromosome 17 p11.2-p12 (CMT1A duplication). We reported a 7-year-old girl with sporadic CMT 1 associated with the CMT1A duplication. The diagnosis of CMT 1 was based on the symmetrical distal muscle weakness, pes cavus deformity, reduced motor and sensory nerve conduction velocities, and segmental de-and remyelinatin on sural nerve biopsy. To detect the CMT 1A duplication, peripheral myelin protein 22 (PMP-22) cDNA and a polymorphic marker in this region, VAW409 R3, were employed as probes for Southern blot analysis. Sporadic cases of autosomal dominant-CMT type 1 can not be clinically differentiated from recessive-CMT1. Testing for the CMT1A duplication is an important first step even in the molecular diagnosis of sporadic CMT1.

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Clusters of atypical absence, myoclonic seizures and tonic seizures developed in a thirteen-year-old boy with Lennox-Gastaut syndrome. As conventional antiepileptic drugs failed to eliminate the seizures, we treated the patient with continuous intravenous lidocaine (4mg/kg/hr). The treatment reduced the duration of paroxysmal discharges (spike-wave complexes and rapid rhythm) from 3 sec/min to 0.7 sec/min, monitored by EEG. Oral mexiletine (5.4mg/kg/day) following the lidocaine treatment has maintained good seizure control for two years with no adverse effects, and improved his behavioral problem. The treatment with lidocaine followed by mexiletine was useful for controlling clusters of intractable seizures.

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[in Japanese]

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[in Japanese]

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[in Japanese]

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[in Japanese]

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