Objective: To evaluate the characteristics of patients with cyclic vomiting syndrome (CVS) and the efficacy of prophylaxis therapy. Methods: We defined the patients as “CV (+) ” if they had multiple neuromuscular diseases and as “CV (−) ” if they did not. We compared the two groups according to their background and the type of medications and their effects. We also evaluated their locomotion and sleep pattern. Results: There was no significant difference between CV (+) and CV (−) with regard to the association with migraine. Pharmacotherapy with cyproheptadine and valproate had high success rate for both CV (−) and CV (+). The rate of delayed locomotion development and atonia during non-REM sleep was high in both CV (+) and CV (−). Conclusions: We postulate that the association of serotonergic neurons is one of the important factors in both CV (+) and CV (−).

  Objective: The characteristics of death in patients with severe mental and physical disabilities include, a short period from the onset of symptoms to death and sudden death in the young. However in recent years, it has not been rare for such patients to live to more than 50 years old. We examined the survival rate and current state of death within 24 hours among this patient population at our center. Methods: We identified 314 deaths from April 1 in 1969 to March 31 in 2013 and a total of 388 survivors during this date range. Based on confirmation, cases of death occurring within 24 hours from onset were extracted. The probability of survival was estimated and graphed using the Kaplan-Meier method, and factors influencing the characteristics of death within 24 hours and/or the survival rate were investigated using medical records after 1995. Results: The median age at survival was 56 years. The need for gastrostomy feeding was associated with a 2.4 times higher mortality rate than oral feeding. The survival estimate at 60 years for the cases of gastrostomy feeding was 34%, and the survival estimate at 70 years for the cases involving severe motor impairment was 34%. The age distribution showed no significant differences between the two groups, i. e.; cases of death within 24 hours and others. In the cases of death within 24 hours, the patients were tracheotomized and/or not followed with a monitor, which suggests that death may occur in all cases, irrespective of the patient’s condition. Conclusions: This study showed that patients with severe motor impairment may survive beyond 70 years of age. Death within 24 hours is not associated with a specific mortality age and can occur in any patient regardless of the severity of their condition, accounting for a relatively high proportion of causes of death, even now.

  Objective: To evaluate the effects and tolerability of vigabatrin (VGB) in children with tuberous sclerosis (TS) with infantile spasms or tonic seizures. Methods: We examined the impact of VGB on a series of 17 children with TS visiting Tohoku University Hospital in Japan during April 2010 and May 2015. To minimize potential adverse effects, VGB was given to the patients for limited 6 months with titration from 30 mg/kg/day as an initial dose. Results: Main seizure types were classified into spasms (n=10) or tonic seizures (n=7). Seizure reduction was positively associated with seizure type of infantile spasms, lower maximum dosage, younger age on VGB administration, and earlier VGB treatment after the diagnosis. Seizure type of infantile spasm was an independent favorable predictor and also associated with long-term seizure reduction. Major adverse events included psychiatric symptoms (n=7) and electroretinogram (ERG) abnormalities (n=2). All symptoms were recovered by reducing the dosage of VGB. Conclusion: VGB is effective and well tolerated as first-line treatment for TS children with infantile spasms. Our “low dosage and limited period” protocol is efficient for improving seizure control as well as minimizing the potential risks of VGB.

  Objective: We have frequently applied noninvasive positive pressure ventilation (NPPV) to treat acute respiratory failure in children with severe motor and intellectual disabilities. We investigated the features and causes of conditions requiring endotracheal intubation. We aimed to determine whether phlegm expulsion using appropriate breathing physiotherapy with NPPV could avoid the need for endotracheal intubation in such patients. Methods: Between December 2010 and November 2012, 21 children with 51 episodes of acute respiratory failure were placed on NPPV at our hospital. We investigated the ratio, background, and causes of conditions requiring endotracheal intubation. Results: Pneumonia and bronchitis caused 30 and 21 episodes of respiratory failure, respectively. Respiratory infection required endotracheal intubation in 8 of 30 episodes of pneumonia, and in none of the 21 episodes of bronchitis. Respiratory infections were caused by upper airway obstruction with large amounts of secretion (n=4), lower airway obstruction due to atelectasis (n=3) and a combination of both (n=1). The frequency of breathing physiotherapy was significantly higher for all patients who required assistance with active phlegm expulsion than in those who did not (p=0.006). More patients on endotracheal intubation also required phlegm aspiration compared with other patients (p=0.019). Conclusion: We applied NPPV to acute respiratory failure in children with severe motor and intellectual disabilities. This allowed 84% of them to avoid endotracheal intubation. Acute respiratory failure did not improve in any patient who required endotracheal intubation, but we also used NPPV with breathing physiotherapy and postural drainage. Assistance with phlegm expulsion is hampered in children with severe motor and intellectual disabilities due to conditions such as thoracic deformations, joint contracture and glossoptosis. We consider that assistance with phlegm expulsion using appropriate breathing physiotherapy with NPPV is very important for such patients.

  Objective: We investigated the clinical characteristics of pediatric psychogenic non-epileptic seizures (PNES). Methods: We studied 15 children and adolescents with PNES, who were divided into 3 groups : 1) a group with epilepsy (7 patients), 2) a group without epilepsy and mental retardation (MR) (7 patients), and 3) a group with MR (1 patient), according to the guideline for the diagnosis and treatment of PNES established by the Japan Epilepsy Society. Results: Remission of epilepsy and PNES was achieved in only 2 patients in the group with epilepsy. In the group without epilepsy and MR, antiepileptic drugs (AEDs) could be discontinued entirely in all the patients, however, the treatment for PNES could be completed in only one patient. Treatment of epilepsy and PNES could be completed in the one patient with MR. Conclusions: It is important for pediatric neurologists to explain the good news to the parents of children in the group without epilepsy or MR, that the patient does not have epilepsy and does not require treatment with AEDs. For the group with MR, understanding should be encouraged about the development of the child. Because treatment is difficult in the group with epilepsy and PNES, cooperation among the pediatric neurologists, pediatric psychiatrists and clinical psychologists is more important.

  Joubert syndrome is characterized by neonatal breathing disorders that are thought to improve with age, but recent findings indicate that sleep-related breathing disorders can occur even after infancy. A 15-year-old boy who had a breathing disorder during the neonatal period developed mental retardation and hypotonia. He was diagnosed with Joubert syndrome based on the clinical course and molar tooth sign on brain MRI at 9 years of age. Daytime sleepiness developed at 15 years of age. An interview and the results of sleep questionnaires (Epworth sleepiness scale, Pediatric sleep questionnaire and Pittsburgh sleep quality index), indicated that the patient had daytime sleepiness and a sleep-related breathing disorder. Overnight polysomnography showed central apnea with an apnea hypopnea index of 16, indicating that the patient had central sleep apnea syndrome. After nighttime oxygen therapy at home for one month, the sleep questionnaires showed improved daytime sleepiness and the sleep-related breathing disorder. The improvement persisted for over 12 months thereafter. Sleep-related breathing disorders could be indicated by non-specific complaints such as daytime sleepiness and lead to appropriate therapies. Such disorders should be considered as a complication of Joubert syndrome even after infancy.

  Nasogastric tube feeding is a common method of parenteral nutrition. We observed ulcers on the epiglottis caused by a nasogastric tube in three adults with severe motor and intellectual disabilities (SMID) during examination with a laryngeal fiberscope while swallowing. These ulcers were healed by changing the method of inserting the nasogastric tube. The patients were three men aged 25, 39, and 55 years. The muscle tone of the whole body was increased in all of the patients. Two patients had severe scoliosis, and the other patient had lordosis in the thoracic vertebrae and had received laryngo-tracheal diversion. All of the patients received intermittent or continuous respiratory care. The pharynx of the patients with severe scoliosis became thinner and the feeding tubes ran obliquely. The feeding tube in the patient who received laryngo-tracheal diversion entered the cut and closed trachea through the glottis. Ulcers were observed on the laryngeal side of the epiglottis in all of the patients. The ulcers were healed by preventing feeding tubes from running obliquely or by using the naso-gastric tube made of different materials in the patients with severe scoliosis. In the patient who received laryngo-tracheal diversion, we succeeded in avoiding the glottis by keeping his face forward while inserting the feeding tube. Then feeding tubes were changed with guidewires, and the ulcers were healed. When using nasogastric tube feeding for persons with SMID with a large increase in muscle tone and/or with severe scoliosis, adopting a method of inserting feeding tubes that avoids damaging the epiglottis with a laryngeal fiberscope is required

  Tuberous sclerosis complex (TSC) is a genetic disease affecting many organ systems and showing different symptoms in each age group. We encountered a TSC patient with intractable epilepsy who had brain tumors suspected to be subependymal giant cell astrocytoma (SEGA). We used adrenocorticotropic hormone and ordinal antiepileptic drugs at first, but they showed limited effectiveness. After we tried several treatments for epilepsy, we started to use everolimus to prevent tumor growth. As a result, the development of the tumor stopped and the epileptic attack improved simultaneously. The frequency and duration of each epileptic spasm and seizure became milder, and the electroencephalogram findings also improved. The mental development had regressed when the epilepsy started, but it started to progress again after the epileptic attack disappeared. Everolimus may be used for treatment of intractable epilepsy with TSC in patients with a growing SEGA.