To determine the occurrence, outcome, and prognostic factors of West syndrome (WS), we performed a retrospective epidemiological study of WS occurred in 47 children (26 boys and 21 girls) in Nagasaki prefecture during a recent 10-year period from 1989 to 1998. The incidence of WS was 3.1/10, 000 live births. The mean age at onset of spasm is 6.3 months (range: 2 to 12 months). Thirty-nine patients (83%) had symptomatic WS, in which the prenatal causes (patients) were most frequent, followed by low-birth weight infants (patients), perinatal (patients) and postnatal (patients).
The brain CT was performed in 37 patients, and revealed congenital brain malformations (9 patients), destructive brain disorders (12 patients), and no structural abnormalities (16 patients).
The seizure outcome was worse in the symptomatic WS than in the cryptogenic WS; seizure/ disappeared in 39% of the former and in 75% of the latter/ developmental delay before the onset of WS, relapse of WS and persistence of seizures were associated with poor seizure outcomes.
Among the remaining seizures at the time of this surveillance, a tonic seizure was most frequently observed, followed by the partial seizures. Lennox- Gastaut syndrome was observed in 2 patients only. Epileptic discharge in the latest interictal EEG were diffuse in 4.3%, focal or multifocal in 60.7%, and absent in 35%, suggesting that many patients with WS had cortical epileptogenic foci.
The developmental outcome was very poor in both the symptomatic and cryptogenic WS. The mean DQ in all the patients was 25, and only 4 patients (11%) had a normal DQ (>75). DQ was lower in patients with congenital brain malformations than in those with destructive brain disorders.

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We studied immunization for 128 handicapped patients, from 3 to 15 years of age, in a Seishi Gakuen Hospital, with 8 vaccines: diphtheria- purified acellular pertussis- tetanus combined (DPT), BCG, polio, measles, rubella, mumps, varicella, and Japanese B encephalitis. The rate of vaccination in these patients was lower than in healthy children at 3 years of age in Kanazawa City. There was no significant difference between patients with and without epilepsy. The rate was higher in the hospitalized patients than in the outpatients. More than 90% of the hospitalized patients was immunized against influenza under informed consent in 1997 and 1998. Despite pandemics of influenza in Kanazawa City, where the hospital was located, the period of fever by influenza was significantly shorter in our patients in both 1997 and 1998 than in 1996. Although a half of our patients had epilepsy, they were safely vaccinated with few side effects.

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We investigated seizures in 22 children with congenital adrenal hyperplasia (CAH), eight of whom had seizures associated with fever. The follow-up period was 5-18 years. The onset of seizures ranged from 1 to 4 years of age, and the total number of seizures was one to three in all cases. Four cases had seizures twice within 24 hours. None had seizures after 5 years of age. In two of the eight cases, the seizures may have caused by hypoglycemia or hyponatremia, in the remaining six they were considered to be febrile seizures. Three of them had first- degree relatives with febrile seizures. Electroencephalogram was recorded in five cases, with normal results in all of them. One case with febrile status developed localization-related epilepsy later. None showed developmental delay during follow-up. Although seizures in CAH have been ascribed to hypoglycemia and/ or metabolic disorders (hyponatremia), our findings implicate unknown factors in the pathogenesis such as excess secretion of corticotropin releasing factor (CRF) under stress, prolonged elevation of CRF during fetus life and linkage between CAH and febrile seizures on the chromosome 6.

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We assessed the efficacy of an early intervention program (EIP) designed to promote the neonatalbehavioral organization and developmental progress in infants born prematurely. The study subjects consisted of 48 very low birthweight infants (≤1, 500gms) who received care in NICU of Nagasaki University Hospital, Nagasaki, Japan. During 1993-1996, the experimental group (n=30) received the NBAS (Neonatal Behavioral Assessment Scale) based intervention combined with a therapeutic program (EIP), for 44 weeks starting from 38 weeks of postmenstrual age. The control group (historical control, n=18) received the standard medical- nursing care without EIP during 1990-1992. Developmental outcome was assessed in both groups using the NBAS examination after EIP at 44 weeks of postmenstrual age, and the Bayley Scales at 12 months corrected age. Multivariate analyses were performed to adjust for baseline variables that might be associated with the developmental outcome: sex, appropriate or light for dates infant, birthweight, gestational age, Apgar score at 1 minute, duration of intubation, and NBAS cluster score before EIP. In the NBAS examination after EIP, the experimental group achieved significantly higher scores in orientation, motor performance, state range and state regulation tasks than the control group. Furthermore, the experimental group showed significantly higher Bayley Mental and Psychomotor Developmental Indices compared with the control group. These results suggested that EIP was effective in promoting the neonatal neurobehavioral development of very low birthweight infants.

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Bone mineral density (BMD) and motor activity of the upper extremities, were studied in 18 children with spastic cerebral palsy (CP group) and 12 age-matched normal boys (control group). The motor activity was monitored by a piezoelectric transducer. Whole body BMD as well as BMD of the head, upper limbs, ribs, spine, pelvis, and lower limbs was evaluated by dual energy x-ray absorptiometry. In the CP group, BMDs were lower compared to control group in the whole body and in all the body regions (except for the head) especially in the pelvis and lower limbs. BMDs of these regions were higher in walking patients than in bed-ridden, rolling, and crawling patients. Motor activities in the upper extremities were lower in the CP than in the control group. BMD increased with developing motor activity in the upper extremities. These results implicate diminished BMDs of the lower limbs and pelvis, which are associated with standing and walking, to the high incidence of femur fractures in CP.

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We report here a 4-month-old male infant with a cerebellar teratoma. After vomiting for 5 days, he had a tonic-clonic seizure on the left showing secondary generalization. Neuroimaging studies showed severe hydrocephalus and a large tumor in the left cerebellar hemisphere, which showed calcification. Postictal scalp, electroencephalogram showed right hemispheric spikes and spike-waves. He underwent an emergency operation and had the tumor totally removed. Histological diagnosis of the tumor was immature teratoma. Intracranial teratomas have a predilection for supratentorial and midline sites. They are the most common in the neonatal period. We presented a very rare case of teratoma in the cerebellar hemisphere of an infant.

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We reported a 19-year-old woman with multiple sclerosis (MS) with recurrent episodes of psychiatric symptoms at the age of 10 and 19, as the first and 11th relapse, respectively. Her first episode of MS resembled acute encephalitis at the age of 9 and she relapsed 12 times. The psychiatric symptoms were not mood disorders but altered states of consciousness, such as the delirous state. She was treated with high doses of intravenous methylpredonisolone and her symptoms were almost resolved, but her anxiety neurosis remained. Her MRI showed demyelination in the white matter of the frontal lobe and the hippocampus, which suggested that psychiatric symptoms of MS would be related to the frontal lobe lesion.

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Recently, the substitution of proline 250 by arginine in the fibroblast growth factor receptor 3 (FGFR3) gene, has been identified in patients with craniosynostosis and defines a new syndrome on a molecular basis. We report a 1-year- 1-month-old female with bilateral coronal craniosynostosis who had the P250R mutation in FGFR3 gene detected by DNA sequencing. She had brachycephaly, temporal bossing, high and flat forehead, hypertelorism, mild proptosis, low set ears and no digital abnormalities. She underwent surgical repair at 7 months and her cosmetic problems were improved. Her development was normal up to 13 months of age. DNA analysis from her parents showed that her father had the same mutation. The phenotypes of the P250R mutation in the FGFR3 syndrome are variable even within the same family, but main characteristic clinical features are follows, 1) lateral or bilateral coronal craniosynostosis, 2) mild hand and foot anomalies, and 3) sensory deafness. In FGFR3 syndrome the diagnosis of P250R mutation by polymerase chain reaction (PCR) is very easy and important for early diagnosis and genetic counseling.

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We reported a 6-year-old girl with Rett syndrome with severe apnea attacks following hyperventilation during wakefulness for which oral diazepam, 1.5mg per day, showed marked effect. We evaluated the efficacy of diazepam by polysomnography. Polygraphical examinations revealed decrease of apnea attacks from 15.7/hour to 0.6/hour and of the duration of the longest apnea attack from 40 seconds to 18 seconds. The seresults support the previous reports which suggests involvement of the cerebral cortex and the reticular formation for respiratory disturbance in Rett syndrome.

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We reported here a case of symptomatic partial epilepsy following acute necrotizing encephalopathy of childhood associated with influenza A virus infection. This 2-year-old boy underwent repeated EEG recordings, which at the acute stage was dominated by diffuse 1-2Hz slow waves. The background activity was 5 Hz θ waves on the 49th day. Paroxysmal activities appeared after the 89th day of illness. On the 231th day, EEG showed spike-and-waves on the left and right frontal areas. Interestingly, paroxysmal activities preceded the onset of epileptic zeizures by 7 months, and spike-and-waves by 2 months. After 10 months, he had generalized seizures with fever, and partial seizures on awakening without fever. Interictal EEG showed spike-and-waves on the bilateral frontal areas, and diffuse polyspikes and slow waves were occasionally seen. Though the background activity improved, his consciousness level did not recover probably because the thalamus, basal ganglia, brainstem were damaged more severely than the cerebral cortex.

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We describe here a 5-year-old girl who presented flaccid paralysis of the left upper limb after recovery from bronchial asthma. T2-weighted magnetic resonance imaging of the cervical cord revealed a focal high, intensity area in the left anterior horn at the C6-C7 level. She was treated with oral prednisolone, and paralysis resolved within two months. Thirty cases of Hopkins syndrome have been reported so far, but its cause remains unknown. Early administration of prednisolone might ameliorate paralysis in this syndrome.

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