Objective: The aim of this study was to examine an appropriate duration of the use of antiepileptic drugs and the necessity of electroencephalogram (EEG) for patients with recurrent febrile seizures. Methods: This retrospective study included data from patients who showed more than three times of febrile seizures followed-up at our institution. We defined the last seizure when patients were seizure free more than two years. Results: We collected data from 31 patients with a median observation period of 4 years and 6 months. All patients were treated with diazepam, but 1 patient could not be treated owing to dizziness. Among 18 patients, 16 and 2 were prescribed by valproate and phenobarbital, respectively. Of the 16 patients who had been prescribed more than 24 months at the time of this survey, the seizures disappeared in 13 cases (81%) within 24 months. Among the 26 patients whose EEG can be evaluated and who showed no afebrile seizures, there was no significant difference between the number of seizures and the timing of detection of EEG abnormalities. Conclusion: In patients with repeated febrile seizures, about 80% of patients treated by antiepileptic drugs have no recurrence within 2 years, suggesting that 1〜2 years of prescription may be effective. Moreover, it was difficult to estimate the necessity and optimum time of EEG from the number of seizures.

  Objective: We investigated the clinical features of eight pediatric patients with chronic inflammatory demyelinating polyneuropathy (CIDP) to clarify the clinical window for early diagnosis. Methods: The subjects were eight patients who were diagnosed as having CIDP based on neuropathy progressing over two months, evidence of demyelination on nerve conduction study or nerve biopsy, and exclusion of any other disorders. The patients were divided into three groups, according to the area of nerve involvement: typical type, distal acquired demyelinating symmetric type (DADS), and multifocal acquired demyelinating sensory and motor type (MADSAM). Then, we retrospectively investigated their clinical symptoms, electrophysiological features, and responses to medication from their medical records. Results: Four patients were of the typical type, three DADS, and one MADSAM. Patients with the atypical type, i. e. DADS and MADSAM, had a significantly longer period till the diagnosis compared to patients with the typical type (p=0.029). As for the electrophysiological aspect, demyelination was found in all cases and conduction block in three cases. Two of atypical cases had no signs of albuminocytologic dissociation in the cerebrospinal fluid nor nerve root hypertrophy. In addition, all atypical cases needed nerve biopsy. All typical cases and two out of the four atypical cases achieved remission by means of immunomodulation therapy. Conclusions: Since a definite diagnosis of pediatric CIDP is difficult especially in patients with slowly progressive neuropathy, electrophysiological and pathological examinations should be actively used.

  The structural maintenance of chromosomes 1A (SMC1A) gene encodes SMC1, which is an important cohesin complex during cell division. Mutations in the SMC1A gene were found in about 5% of Cornelia de Lange syndrome (CdLS) patients. However, mutations in this gene in patients exhibiting CdLS have been reported to be either missense mutations or in-flame deletions in most cases. Recently, the physical characteristics of CdLS in cases with the SMC1A loss-of-function mutation, such as nonsense mutation and frameshift mutation have been elucidated. We herein report a 5-year-old girl with cluster seizures and mild intellectual disability, who was found to carry a novel de novo frameshift mutation of the SMC1A gene (NM_006306.3 : c.2647del : p.Glu883Lysfs^＊2). Cases with a loss-of-function mutation of SMC1A tend to show clinical characteristics similar to protocadherin 19 (PCDH19) related epilepsy, and thereby exhibit cluster seizures and intellectual disability in girls. It is therefore important to recognize the SMC1A mutation as a cause of “genetic epilepsy” in addition to being a cause of CdLS.

  Environment adjustment and psychosocial treatment are more important than medication in the Japanese ADHD guidelines, 4th edition. We advocate “behavioral prescription” that can be done at outpatient clinics as psychosocial treatment. The “Game of thank you” is a type of “behavioral prescription” and it improved the mother-child relationship involving a child with ADHD and autism spectrum disorder. The patient was a 6-year-old boy. His main symptom was restlessness. His mother used to hit him, so a children's family support center supported his mother. I recommended “Game of thank you” . “Game of thank you” rewards players who give, or wish to give, compliments. In this case, when the boy's mother wants to say “thank you” but she can't say the words, she receives 1 point. When she can bring herself to say, “thank you” , she can get 3 points. When she can say “thank you” 3 times, she can get 5 bonus points. She stopped the hitting after playing “Game of thank you” which led to an improvement in his behavior and her condition. “Game of thank you” was an effective way to bring the mother and child together.

  Pathological changes in acute disseminated encephalomyelitis (ADEM) are primarily observed in the white matter on MRI. A 9-year-old girl was admitted for impaired consciousness with fever and headache that lasted for 10 days. Analysis of cerebrospinal fluid (CSF) at the time of admission indicated increased cell counts (107 cells/μl). Brain MRI revealed high signal intensity lesions mainly in the temporal, insular, and frontal lobe cortexes on T2- and diffusion-weighted images. On the suspicion of herpes simplex encephalitis, acyclovir was initiated. However, the fever persisted, and the CSF test for herpes simplex virus DNA using polymerase chain reaction was negative. Brain MRI on the day 17 exhibited new T2-weighted high-intensity lesions in the bilateral striatum, and physical examination revealed obvious pyramidal tract signs that prompted us to suspect ADEM. Steroid therapy was started and clinical symptoms rapidly improved. ADEM recurred 4 months after hospital discharge, but rapidly remitted after resuming steroid therapy. At the time of writing, there had been no further recurrence. In the present case, the patient was positive for anti-myelin oligodendrocyte glycoprotein (MOG) antibody in the acute phase. The atypical MRI findings in this case, namely restricted diffusion mainly on the cerebral cortex, may extend the clinical spectrum of anti-MOG antibody positive ADEM.

  Beta-propeller protein-associated neurodegeneration (BPAN) is a neurodegenerative disorder characterized by iron deposition in the brain. We herein report a 24-year-old female patient with BPAN who harbors a mutation of the WDR45 gene which is X-linked dominant and who has had a drastic evolution of intractable epilepsy over a long-term period.

  The patient initially experienced a left side-dominant tonic-clonic seizure at seven months of age, and a focal impaired awareness seizure at the age of one. After the onset of seizures, her development deteriorated slowly : she began to walk without support at one year seven months of age, but could not understand language. She subsequently had refractory seizures including tonic seizures and atypical absence seizures. Electroencephalogram (EEG) records showed diffuse high-amplitude background fast waves, bursts of fast rhythm, and diffuse slow spike-and-wave bursts.

  At the age of 19 years, magnetic resonance imaging (MRI) showed hypointensity of the globi pallidi and substantia nigra in the T2-weighted images, and whole-exome sequencing disclosed a de novo mutation, NM_007075.3 : c.830＋2dup, in WDR45. At around 20 years of age, her motor ability worsened, and the tonic seizures increased. EEG abnormalities, however, dissipated with the disappearance of atypical absence seizures.

  The present report is the first case of a clinical and EEG evolution of epilepsy associated with BPAN, and may provide a clue for understanding the evolutional changes of brain functions of this disease.