Congenital cerebral hypomyelination includes a group of genetic disorders, such as Pelizaeus-Merzbacher disease (PMD), and is characterized by hypomyelination of the cerebral white matter. Until recently, no classification system was available for congenital hypomyelination disorders that are clinically and genetically excluded for PMD. However, the establishment of new disease entities with gene discoveries has generated a clinical need for a new classification and diagnostic criteria for this group of disorders. Here, we review the recent findings on congenital cerebral hypomyelination, which includes 11 diseases, with a novel disease classification and diagnostic criteria with flow charts.

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  We investigated whether the graphic headache diary is useful for diagnosing headache types in children, especially suffering from chronic daily headaches. Our study involved 109 children who completed the diaries for more than 3 weeks. The headache diary was a modified version of that used in the study by Sakai et al. Of 109, 84 had migraine, 15 had tension-type headache and 10 had both tension-type headache and migraine from the questionnaire and the first interview. The diary disclosed that 20 children, initially diagnosed as having migraine, had co-existing chronic tension-type headache with a variety of psychosocial problems. The graphic headache diary seems to be helpful for headache diagnosis and awareness of stress in children who suffered from strong and persistent headaches. Our study suggested that the graphic headache diary is useful not only for diagnosing headache types in children but also for finding out problems in school and/or family.

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  The objective of this study is to identify the developmental changes in nocturnal sleep behaviors among preterm infants in comparison with full-term infants (control group). The subjects were 18 preterm infants and 23 full-term infants with mean gestational weeks of 26.5±2.3 and 39.1±1.3, and average weights of 879±188 g and 2,940±352 g, respectively. Sleep measures were obtained through Actigraph (Micro-mini RC, Ambulatory Monitoring Inc., Ardsley, NY) over a week-long period. Results showed that the sleep duration was significantly different depending on the corrected age of months in only the preterm group (Preterm group: 504±55 min in under 12 months group, 543±68 min in over 13 months group. Full-term group: 548±68 min in under 12 months group, 544±79 min in over 13 months group). ACTX (percentage of minutes with higher than 0 activity score) was significantly higher for the preterm infants at both age groups in months. In conclusion, the nocturnal sleep duration of preterm infants reached the same level as those of full-term infants after the age of 13 corrected months. Also preterm infants were found to have a higher percentage of less restful sleep during nighttime. Further research is needed to understand the developmental course of physical activity during night time of preterm infants.

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  We investigated the effect of lamotrigine (LTG) add-on therapy in 50 patients with childhood-onset refractory epilepsy (25 males and 25 females) : 15 with localization-related epilepsy, 33 with generalized epilepsy, and 2 with undetermined epilepsy. Twenty-four patients had experienced a period of West syndrome during their clinical course. Age at the start of LTG therapy ranged from 2 years 6 months to 41 years 2 months: <16 years in 43 and ≥16 years in 7. Seizure frequency was ≥1 per day in 36 patients (72%) and ≥1 per week in 14 (28%). We increased the LTG dosage every two weeks in accordance with usage recommendations. We evaluated efficacy at two points: 3 and 6 months after the start of LTG. At the 6-month point, seizure freedom was achieved in 2 patients (4%), ≥50% seizure reduction in 14 (28%), 25 to 50% seizure reduction in 20 (40%), no effect in 6 (12%), and aggravation in 4 (8%). Only 4 patients (8%) stopped LTG therapy within 6 months due to LTG-related mild skin rash in 2 and suspicion of seizure aggravation in the other 2. In terms of seizure types, seizure freedom or ≥50% seizure reduction was achieved in 29% for epileptic spasms, 32% for tonic seizures, and 29% for partial seizures. A comparison between the 3-and 6-month points revealed that the efficacy level was increased or maintained in 77% of the patients and decreased in 23%. In most cases, the highest level of efficacy appeared within 3 months with doses that were smaller than maintenance doses. Observed CNS-related adverse effects included somnolence in 16 patients, irritability in 14, and sleep disturbance in 11. Positive psychotropic effects in daily activities were seen in 28 patients (56%). These effects appeared regardless of the change in seizure frequency with doses that were smaller than maintenance doses.

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  Refractory status epilepticus (RSE) is defined as persistence of seizure activity despite appropriate medical and antiepileptic drug (AED) therapy. Febrile RSE is often caused by presumed encephalitis and has a high morbidity rate. In addition, it is believed that hyperthermia aggravates epileptic brain damage. The efficacy of hypothermia/normothermia (H/N) therapy against brain damage has been proposed, but there have been limited studies reporting on the efficacy of this treatment against febrile RSE. To study the efficacy of induced H/N with general anesthesia therapy in children with febrile RSE, a retrospective review of RSE cases was conducted in 28 children hospitalized in the tertiary pediatric intensive care center of Kobe Children's Hospital, Japan, between October 2002 and August 2009. Clinical outcomes and neurological sequelae using the Pediatric Cerebral Performance Category Scale (PCPC) score were compared after one month of treatment with either H/N (34°C-36°C) with general anesthesia therapy or with other conventional therapies. Cases were categorized as those with good recovery (PCPC=1) or poor outcome (PCPC=2-6). Twelve children underwent H/N with general anesthesia therapy, while 16 children were treated by conventional therapy using intravenous diazepam and/or midazolam. Treatment with H/N significantly improved outcome compared to conventional therapies (p=0.024; Fisher's exact test). Five of 6 patients with poor outcome had a final diagnosis of acute encephalopathy with febrile convulsive status epilepticus (AEFCSE). Treatment with H/N therapy may reduce neurological damage in the development of AEFCSE caused by febrile RSE in children.

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  Two hundred and seven Japanese elementary school children aged from 6 (Grade 1) to 12 (Grade 6) years old were tested for their abilities to name numbers and pictured objects along with reading Hiragana characters and words. These children all showed typical development and their classroom teachers judged that they were not having any problems with reading or writing. The children were randomly divided into two groups, the first group was assigned to two naming tasks; the rapid automatized naming (RAN) of “numbers” and “pictured objects,” the second group was assigned to two rapid alternative stimulus (RAS) naming tasks using numbers and pictured objects. All children were asked to perform two reading tasks that were written in Hiragana script: single mora reading task and four syllable word reading task. The total articulation time for naming and reading and performance in terms of accuracy were measured for each task. Developmental changes in these variables were evaluated.
 The articulation time was significantly longer for the first graders, and it gradually shortened as they moved through to the upper grades in all tasks. The articulation time reached a plateau in the 5th grade for the number naming, while gradual change continued after drastic change in the lower grades for the pictured object naming. The articulation times for the single mora reading and RAN of numbers correlated strongly. The articulation time for the RAS naming was significantly longer compared to that for the RAN, though there were very few errors. The RAS naming showed the highest correlation with the four syllable word reading.
 This study demonstrated that the performance in rapid automatized naming of numbers and pictures were closely related with performance on reading tasks. Thus Japanese children with reading disorders such as developmental dyslexia should also be evaluated for rapid automatized naming.

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  Acute encephalopathy with bilateral striatal necrosis (EBSN) is a rare reversible neurological disease characterized by an abrupt onset following an acute infectious disease and by severe extra-pyramidal signs associated with striatal lesions. Brainstem involvement is rarely observed in this disease.
  We report a 10-year-old boy who had EBSN associated with Mycoplasma pneumoniae. He became lethargic after acute bronchitis. A few days later, he showed extra-pyramidal signs, pyramidal signs and overactive urinary bladder symptoms. Cranial T2-weighted and diffusion-weighted magnetic resonance imaging (MRI) demonstrated high-signal intensity in the bilateral striatum and substantia nigra. These symptoms improved soon after the administration of L-dopa in the acute phase. The effects of corticosteroids were not apparent in the acute phase. The serum particle agglutination titers against Mycoplasma pneumoniae determined on admission, the 12th hospital day and 2 months later were 1: 2,560, 1: 2,560 and 1: 320, respectively.
  Two years later, a mild tic was observed. A mild atrophy was noted in the bilateral basal ganglia, but not in the substantia nigra on cranial MRI.
  This case is the first reported one with EBSN with the presence of an overactive urinary bladder, which could possibly caused by loss of dopaminergic inhibition.

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  Topiramate (TPM) has been shown to be effective for epileptic spasms (ES) in children, but there is little clinical experience with TPM use in Japan.
  We report three tuberous sclerosis (TS) patients with relapsed ES, who became spasm-free while receiving TPM treatment.
  All three patients were treated with a starting dose of 0.5 mg/kg/day. The dosage was increased by 0.5 mg/kg/day every 2 weeks. Although the dose of TPM and the period until the relapsed ES subsided differed among these patients, spasm frequency was clearly reduced by a 1 mg/kg/day dose of TPM. Therefore, efficacy against relapsed ES appeared within one month in all three patients. All three became spasm-free, and there have been no ES relapses for more than 5 months to date. In case 2, seizures were well controlled by TPM alone. Cases 2 and 3 were able to discontinue zonisamide treatment. No adverse effects occurred in any of these patients.

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  We report a case of a 3-year-old boy with acute muscle weakness that initially affected neck and all four limbs but later vanished from the lower limbs. Pharyngeal palsy was not observed during the course. All deep tendon reflexes were absent. Peripheral nerve conduction studies showed a demyelination pattern in each limb. The patient received intravenous high-dose corticosteroid hormone, followed by two immunoglobulin therapies. His muscle strength gradually improved after treatment and was almost completely restored four months later. We ultimately diagnosed the condition as the pharyngeal-cervical-brachial variant of Guillain-Barré syndrome, in consideration of the patient's muscle weakness of the neck and four limbs, the greater degree of weakness of the upper limbs versus the lower limbs. His clinical presentation was atypical for the pharyngeal-cervical-brachial variant of Guillain-Barré syndrome, as he presented no pharyngeal muscle weakness or anti GT1a antibodies, typical manifestations of the condition.

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[in Japanese]

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[in Japanese]

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