Objective: We investigated how patients with severe motor and intellectual disability (SMID) used the short-stay service in our institute during the birth of a sibling. Methods: We surveyed the age, length of stay, severity of medical care dependency, prior test use, and frequency of transfer to other hospitals due to worsening physical conditions, in the patients who registered for Nire-no-kai children's clinic short-stay service between April 2012 and December 2015. We analyzed the patients with SMID who used the service when their mothers gave birth to another baby. Results: Eighteen patients were scheduled to use the short-stay service when their mothers gave birth to another baby. Four were unable to use the service, while 14 patients used the service during their mothers' next childbirth. Most patients had severe medical care dependency. Five of them became ill and needed a hospital transfer for further medical treatment. Six patients remained in stable condition without hospital transfer, despite a long-term stay of more than 2 weeks. All 6 patients experienced prior test use of the short-stay service. Conclusions: The longer the length of stay, the higher the risk of worsening physical conditions. Careful preparation is necessary for the safety of patients who are scheduled to use the short-stay service. Living away from their families for a long time is sometimes difficult for patients with severe medical care dependency, especially infants. Therefore, a respite service based on home care should be provided.

　　Objective: Social services are critical for children with epilepsy and their family, but details of their utilization status of social services are largely unknown. This study aims to clarify the utilization status of social welfare services for pediatric patients with epilepsy in Japan in order to obtain information on the social support for such children and their families. Methods: A survey was conducted on 597 patients (aged 0-16 years) who visited the Department of Child Neurology at Okayama University Hospital and who were diagnosed with epilepsy from October 2015 to October 2016. Results: The medical expense subsidy (MES) for children with specific pediatric chronic diseases (SPCD), MES for ambulant mental medical service, and MES for children/adults with severe motor and intellectual disabilities were utilized in 100 (16.8%), 67 (11.2%), and 63 (10.6%), of these patients, respectively. Patients using the MES for children with SPCD represented 55 of 114 (48.2%) children with West syndrome, 13 of 30 (43.3%) children with Lennox-Gastaut syndrome, and 6 of 13 (46.2%) children with Dravet syndrome, although these syndromes are included in this MES. Twenty-six of 66 (39.4%) patients with non-idiopathic epilepsy with frequent seizures could not use any of the 7 social welfare services related to MES. Conclusions: A considerable proportion of patients did not apply for the available social welfare services probably because they chose other more easily applicable services such as the common MES covering all infants/children. On the other hand, no service was allowed for a group of patients with severe epilepsy not included in specific MES. The social welfare services were found to be difficult to apply for the patients and their families with pediatric epilepsy. Improvement of the application procedures of this service system is needed.

　　Objective: To examine the efficacy of vigabatrin (VGB) for treatment of West syndrome (WS) in our hospital. Methods: We retrospectively reviewed the clinical records of the patients who received VGB for treatment of WS. Before the approval in July 2016, we prescribed VGB, which was imported, after informed consents by parents. After the approval, we prescribed VGB for the patients who were registered Sabril Registration System for Prescription and performed ophthalmologic examination. The efficacy was confirmed if a patient became seizure-free or achieved>50% reduction of the number (50% responder rate) . Results: A total of 27 children (male, 17; female, 10; after approval, 8) were included in this study. The pathogenesis of WS was classified as tuberous sclerosis (14 children) , focal cortical dysplasia and/or other cortical dysgeneses (six children) , and abnormal birth history and hypoxic ischemic encephalopathy (four children) , and other cases (three children) . The average age at the start of VGB administration was 36.0 months. The efficacy rate was 86.7% in the TSC group, 50.0% in focal cortical dysplasia and/or other cortical dysgeneses group, and 0% in the other group. We had no patients with severe visual defects nor symptomatic vigabatrin-associated brain abnormalities on MRI. The adverse effects were agitation in eight patients and insomnia in three patients. Conclusions: VGB had excellent efficacy for TSC and focal cortical dysplasia and/or other cortical dysgeneses and no efficacy for the other patients.

　　A 5-year-old girl was admitted to a hospital due to status epilepticus the day after the onset of fever. Although a midazolam infusion was initially effective, seizures frequently occurred and the patient became dependent on continuous thiopental infusion under mechanical ventilation. She was then diagnosed with acute encephalopathy with refractory repetitive partial seizures (AERRPS) based on her clinical course. Multiple antiepileptic drugs, high-dose phenobarbital, ketogenic diet, and a vagal nerve stimulation had no effect. However, continuous lidocaine infusion completely controlled the seizures and she was withdrawn from thiopental. Subsequently, the lidocaine infusion was successfully replaced by oral mexiletine. Lidocaine infusion is one of the treatment options for the patients with AERRPS who are refractory to conventional treatments and require barbiturate coma.

　　We report the case of a four-year-old girl who was referred to our hospital for altered consciousness and severe back pain. She exhibited various neurological symptoms such as drowsiness, multiple cranial nerve palsy (Ⅲ, Ⅳ, Ⅶ, Ⅹ, Ⅻ), muscle weakness, severe pain of back and extremities, and depressed tendon reflexes. Clinical symptoms and laboratory findings, including protein-cell dissociation of cerebrospinal fluid, lowered motor nerve conduction velocity, and lowered compound muscle action potential of tibial nerve, allowed the diagnosis of Guillain-Barré syndrome (GBS). Serum IgG-class anti-ganglioside antibodies were not detected. Treatment with high-dose intravenous immunoglobulin therapy was initiated; however, muscle weakness proceeded, and the patient required respiratory support by noninvasive positive pressure ventilation from the day 5 to 8. Subsequently, her neurological symptoms showed rapid improvement; she was ambulant on the day 19 and was discharged on the day 30. Epstein-Barr virus (EBV) was detected in the patient's serum, pharyngeal swab, and stool sample upon admission via polymerase chain reaction. Serological studies revealed that the patient experienced antecedent EBV infection for the first time. Although the patient exhibited overlapping symptoms of Fisher syndrome and Bickerstaff brainstem encephalitis, a final diagnosis of GBS with antecedent EBV infection was delivered based on the negative anti-GQ1b antibody and electrophysiological results which suggested acute inflammatory demyelinating polyneuroradiculopathy. Characteristics of GBS with antecedent EBV infection were not completely clarified. Thus, this case is reportable for a further delineation of EBV associated GBS.

　　Rasmussen encephalitis (RE), a childhood-onset autoimmune disease that causes chronic hemispheric encephalitis, typically displays unilateral focal seizures as the initial clinical feature, followed by subsequent progressive contralateral cerebral hemiatrophy and spastic hemiparesis within a few years. We report a 4-year-6-month-old female with atypical RE onset without initial epileptic seizures. The earliest clinical manifestation of RE in this patient was spastic hemiparesis, which was followed by subsequent progressive cerebral hemiatrophy, thus fulfilling two out of three criteria for diagnosis of RE. In addition, the patient's cerebrospinal fluid showed strongly positive signal for an anti-GluR antibody and significantly elevated granzyme B levels, supporting the diagnosis of RE. Methylprednisolone pulse therapy and intravenous immunoglobulin had beneficial effects on the patient's neurological symptoms. Similar cases were reported in the European consensus statement as RE with delayed seizure onset. Consistent with previous reports, the clinical course of our patient also suggests that an autoimmune reaction occurs at the beginning of RE, which subsequently causes chronic encephalopathies. Thus, the existence of RE cases without epileptic seizures during the early course of the disease should be recognized.

　　We report a case of developmental venous anomaly (DVA) with transient thrombosis in its central medullary vein (CMV). An 11-year-old boy was admitted to our hospital with consciousness disturbance and hemiconvulsion. CT scan showed a high-density component with a serpentine configuration in the right temporal lobe. MRI also revealed umbrella-shaped anomalous medullary veins, which indicated DVA on a susceptibility-weighted image. Contrast-enhanced MRI also revealed thrombosis in the CMV of the DVA. Follow-up MRI 5 days after the initial MRI demonstrated recanalization of the thrombosed CMV. His symptoms gradually improved with only hydration therapy and he was discharged without any neurological deficits on day 10. Symptomatic DVA is very rare. However, although the pathogenesis is unclear, DVA can be accompanied by intracerebral hemorrhage. The present case indicated that the impairment of venous return due to thrombosis of the CMV within the DVA may produce symptoms in cases of DVA.

　　Familial episodic pain disorder is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. A gain-of-function mutation in SCN11A has been identified in this rare, early-onset familial episodic pain disorder. Currently available treatment options are warmth, massage, and administration of analgesics. Here, we report a patient with familial episodic pain disorder who received prophylactic treatment. A 4-year old Japanese girl presented with a history of intense episodic pain in the distal extremities and knees since infancy. Pain attacks were sometimes triggered by low ambient temperatures or fatigue, although the trigger for the majority of attacks could not be identified. She experienced frequent episodes of pain (5 or 6 attacks per day) with each attack lasting 30-60 min. Each attack persisted for 2 or 3 days and occurred every week. The pain was intense and unbearable, occurring late in the day or at night. The patient sometimes awoke from sleep because of the pain. There was no change in skin color, nor did she experience sweating during pain attacks. Her 32-year-old father has been experiencing the same symptoms since childhood. Investigation of the family history revealed many affected individuals with the autosomal-dominant trait. The severity of pain in the affected family members decreased with age. The patient's father continues to take analgesics ones or twice a month. An SCN11A mutation, NM_014139. 2: c. 665G>A (p.Arg222His), was identified in the family. Acetaminophen was effective, but the patient required frequent administration; therefore, we considered prophylactic treatment. Carbamazepine and gabapentin did not yield adequate relief. Subsequently, we administered lamotrigine, which was reportedly effective in a previous case of the p.Arg222His mutation. However, lamotrigine was ineffective for our patient. Currently, no prophylactic treatment has been identified that consistently prevents pain attacks in familial episodic pain disorder.