No To Hattatsu最新文献

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.

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.

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.

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: We examined the short-term efficacy and safety of rufinamide (RFN) in patients with Lennox-Gastaut syndrome (LGS). Methods: We performed a retrospective review of clinical records of patients with LGS who started RFN treatment between July 2013 and June 2014 at the Hokkaido Medical Center for Child Health and Rehabilitation and Midorigaoka Ryo-iku-en. Efficacy and safety were evaluated when the patients had completed three months of treatment. Patients were classified into four categories according to percent seizure reduction : remission (seizure-free), response (seizure reduction≥50%), no change (seizure reduction<50% or increase) and aggravation (seizure increase≥50%). Responder rate (RR) was the percentage of patients with≥50% decrease in seizure frequency. Results: Thirteen LGS patients (8 males, 5 females) were studied. The efficacy for tonic seizures (13 patients) was remission 1 patient, response 3 patients, no change 8 patients and aggravation 1 patient, with RR of 30.8%. Two patients discontinued LGS due to seizure aggravation. Four patients experienced transient remission. For generalized tonic clonic seizures (2 patients), 1 patient achieved remission and 1 patient showed no change. Two patients of atonic seizures showed no change. Of 2 patients of atypical absence, 1 patient showed response and 1 patient no change. Eight patients had adverse effects such as somnolence (6 patients), sleep disturbance (1 patient), and appetite loss (4 patients) including weight loss in 2 patients. There were no severe adverse effects and no discontinuation due to adverse effects. Conclusions: Short-term effectiveness for tonic seizures was observed when patients with LGS were treated with RFN, with transient remission in some patients. We consider that RFN is worth trying in patients with LGS due to its efficacy for tonic seizures and absence of severe adverse effects.

Benign familial infantile epilepsy (BFIE) is characterized by non-febrile focal seizures, which sometimes evolve to secondarily generalized seizures and are usually resolved in the second year. Proline-rich transmembrane protein 2 (PRRT2) is confirmed as the major cause of BFIE, familial paroxysmal kinesigeneic dystonia (PKD) and infantile convulsions and choreoathetosis (ICCA) syndrome. We examined a female patient with a hot spot mutation of PRRT2 gene. She had recurrent tonic seizures when she was three months old. The seizures were controlled by several kinds of anticonvulsants. Then, she had several times of focal seizures daily at nine months old. However, the seizures were stopped by small amounts of carbamazepine. Later, when she was two years old, she experienced frequent motor seizures characterized by truncal flexion and swaying the body with partially disturbed consciousness. Her father also had the same PRRT2 gene mutation and non-febrile seizures in infancy. The patient had mild to moderate mental retardation, whereas her father was mentally normal. Therefore, the patient revealed a quiet different phenotype from that of her father as a carrier of the same PRRT2 gene mutation. We speculate that the PRRT2 mutation had caused the BFIE-like seizures both in the patient and her father, whereas other unknown genetic factors specific for the patient might be associated with the atypical seizures observed only in her.

X-linked lissencephaly with ambiguous genitalia (XLAG) syndrome is a disorder associated with severe intellectual disability and intractable epilepsy. Intractable diarrhea is also observed frequently. At present, pathogenic background of diarrhea is not revealed and the essential treatment has not yet established. We encountered a patient with XLAG, who showed intractable diarrhea. Lactose removed hypoallergenic milk and somatostatin analogs were ineffective. For enteral nutrition was impossible, a tunneled central venous catheters was inserted to obtain a sustained parenteral nutrition management. However, catheter-related bloodstream infections were repeated in a short period of time. Thus, we introduced ethanol lock therapy for infectious disease prevention purposes. As a result, we succeeded continuous treatments with preserving the catheter.

Multiple mutations in Kir6.x and SURx genes have implicated ATP-sensitive potassium (KATP) channels and, as a result, have led to diverse diseases, ranging from diabetes and hyperinsulinism to cardiac arrhythmias and cardiovascular disease. These diseases are referred to as KATP channelopathies. Recently, Cantú syndrome (CS), which was found to be caused by mutations in the ABCC9 or KCNJ8 gene, was newly added to the list of KATP channelopathies. CS is a rare multi-organ disease characterized by congenital hypertrichosis, characteristic face, persistent ductus arteriosus, cardiomegaly, intrauterine overgrowth, and skeletal abnormalities. Congenital hypertrichosis and coarse face have been confirmed in all CS patients. On the other hand, cardiovascular and skeletal abnormalities vary widely in severity, even in some familial cases and in isolated cases sharing the same mutation. Information about genotype-phenotype correlations in CS are described here.

Objective: Nutritional management in children with medically dependent severe motor and intellectual disabilities (SMID) is difficult. SMID children with respirator support sometimes showed obesity in spite of proper nutrition. The optimal energy intake in these children remains unclear. The objective of this study is to determine the features of body composition and the optimal calorie intake in children with respirator-dependent SMID due to severe hypoxia. Methods: The study was a retrospective chart review of five children with respirator-dependent SMID due to severe hypoxia. They were treated between 2012 and 2015 at the National Center for Child Health and Development in Tokyo, Japan. Their ages ranged from one to nine years. All patients were clinically stable under continuous mechanical ventilation. Body composition including body fat percentage (%Fat), muscle mass (MM) and fat-free mass (FFM) were measured by a multi-frequency bioelectrical impedance analysis (BIA) (InBody S20®). When necessary, adjustments for calorie intake were made. Results: %FAT was high (range, 40 to 70%) and MM was low, indicating that all children were under excessive nutrition. A markedly decrease in FFM was also observed. After the adjustment, daily calorie intake was maintained at 210 to 350 kcal/day. Daily calorie intake per FFM ranged from 25 to 42 kcal/kg/day. Conclusions: The children’s body composition revealed that FFM was decreased. As FFM is a major influencing factor for basal metabolic rate, FFM-based calorie adjustment is useful to determine the optimal calorie intake in children with respirator-dependent SMID due to severe hypoxia. Nutritional assessment using BIA is recommended in such children.