Anti-N-Methyl-d-aspartate (NMDA) receptor encephalitis was identified approximately 13 years ago. Previous studies have shown that anti-NMDA receptor encephalitis is the most common auto-antibody-mediated encephalitis. It is necessary to consider the differential diagnosis in cases of acute-onset psychotic symptoms and involuntary movements. The elucidation of pathological conditions and diagnosis/treatment policies has made great progress. However, without proper treatment, patients need a very long time to recover, sequelae may remain, or death may occur in the acute phase. Early diagnosis and treatment are very important. This review provides an overview of anti-NMDA receptor encephalitis, the characteristics of pediatric cases, and the recently proposed approach for early diagnosis and treatment.
The media environment surrounding children has been changing rapidly with the times, and the exposure of children to electronic visual media is becoming longer and occurring at a younger age. For children who are still growing and developing, the physical and mental effects of inappropriate media use are immeasurable, and specific problems such as disrupted life rhythms, lack of sleep, reduced visual function, adverse developmental effects, and cyberbullying have emerged. In addition, as internet gaming addiction has become a medical concern, prevention and treatment are now being considered. On the other hand, there are more and more situations in which media is incorporated into learning and daily life and used successfully, and coexistence with media has become a matter of course. Therefore, it is important to teach the children of this new era how to deal with the media in a good way.
Objective: We aimed to determine the extent to which neurocognitive assessment can be performed in the current clinical situation in Japan and assessment tools that are necessary and sufficient for correct evaluation. Methods: Patients at facilities of the Brain Tumor Committee of the Japan Children's Cancer Group, in which many comedies can collaborate to benefit patients with neurocognitive impairment, participated. The participation criteria were 1) age of 5-18 years and 2) no recurrence for >2 years from initial onset. Results: Fifty children were recruited from 8 medical facilities. The mean ages were 12.4 years at the time of the study and 6.6 years at tumor detection. Radiotherapy and chemotherapy were administered in 86% and 98% of the cases, respectively. WISC-IV/WAIS-III and Pediatric Quality of Life (PedsQL) were completed by 47 participants. The Full-Scale IQ and PedsQL scores of patients and their parents were lower than those of healthy controls. The Strengths and Difficulties Questionnaire was completed by 41 parents and 25 patients. Compared to the evaluations of the parents of healthy children, those of patients' parents showed more difficulties in “emotional symptoms,” “peer problems,” and “total difficulties scores” ; the latter was strongly correlated with PedsQL scores. Conclusions: To increase the number of institutions where appropriate neurocognitive assessments can be performed, a systematic follow-up system must be developed in which pediatricians, brain surgeons, psychiatrists, rehabilitation doctors, paramedical staff including nurses and psychologists, and rehabilitation therapists can collaborate and share patient information.
Objective: Menstrual cycle dysfunction (MCD) in epileptic women with mental retardation (MR) and basic disorders has scarcely been reported. To determine the occurrence of MCD in these women, relationship between MCD and antiepileptic drugs (AED) and taking measures to meet the situation, we analyzed epileptic women following up in our center. Methods: Twenty-nine postmenarcheal women included in the study. These included 23 patients with focal onset seizures and six with generalized onset seizures. Ages at examination and seizure onset were 28.7 and 5.9 years on average, respectively. Mental retardation was found in 22 patients and 15 had basic disorders. Results: MCD was found in 10 patients and 19 patients had normal menstrual cycles. All seven patients without MR showed normal menstrual cycles. Among nine patients prescribed valproate (VPA), three patients showed MCD. One of them had polycystic ovaries and substitution of lamotrigine for VPA normalized her menstrual cycles, resulting in good seizure control. Among 21 patients treated with the liver enzyme-inducing AEDs, fifteen patients exhibited normal menstrual cycles, while six patients showed MCD. Among them, hormonal examinations were performed in four patients and one patient showed low serum cortisol levels. In this patient, one of her AEDs was discontinued without seizure relapse and administration of cortisol alleviated the MCD. Conclusions: The frequency of MCD in this study was higher than that of previous reports, presumably due to many patients showing MR and basic disorders. In patients with MCD, a change or the discontinuation of AEDs normalized her menstrual cycles, resulting in good seizure control.
Objective: Hyponatremia is one of the side effects of carbamazepine (CBZ). Lacosamide (LCM) is a new antiepileptic drug and the same Na＋ channel blocker as CBZ. We examined whether switching to antiepileptic drugs from CBZ to LCM improves hyponatremia in severely handicapped patients. Methods: We retrospectively investigated the patients, admitted to the ward of a severely handicapped patient in National Hospital Organization Shikoku Medical Center for Children and Adults, taking CBZ, loading more than 6.0g of NaCl per day, did not increase their intake of Na and did not have hepatic and renal dysfunction. After performing various tests including serum sodium level, the CBZ was reduced to approximately half the dose, LCM 100mg per day was added at the same time. CBZ was discontinued 14 days later, switched to LCM 200mg, and serum sodium level was evaluated approximately one month later. Results: 6 patients were enrolled, the male-female ratio was 1 : 1, the age was 54.7±4.1 years on average, the serum sodium level before switching was 127.0±1.1mEq/L on average, and the average weight was 35.1±1.7kg. In all cases, serum Na levels were elevated. During the observation period, five patients did not have epileptic seizures, and one case had seizures during switching period, but did not have seizures after switched. LCM switch improved serum Na level from 127.0±1.1mEq/L to 134.5±1.9mEq/L on average (p<0.05). Conclusions: In patients with severe handicap who are suspected to have hyponatremia due to CBZ, switching to LCM can improve hyponatremia.
Objective: To clarify the effectiveness of ramelteon in children and adolescents with neuropsychiatric diseases with comorbid sleep disorders. Methods: This is a retrospective review of patients aged 6 months to 23 years who were prescribed ramelteon for their sleep disorder (delayed sleep phase syndrome, non-24-hour sleep-wake disorder, and nocturnal awakening) in the Division of Neurology and General Pediatrics between January 1, 2010, and December 31, 2017. We studied the association between the effectiveness of ramelteon and the type of sleep disorder, the dosage of ramelteon per body weight, comorbidities, and other medications taken. Criteria for effectiveness were defined as less awakening or sleep at a desired time. Results: The overall success rate was 130/210 (62%). We could note the effectiveness of ramelteon in 67/104 (64%) patients with delayed sleep phase syndrome, 8/16 (50%) with non-24-hour sleep-wake disorder, and 27/44 (61%) with nocturnal awakening. Regarding comorbidities, ramelteon showed effectiveness in 12/16 (75%) of those with severe visual impairment, 21/30 (70%) with autism spectrum disorder, 19/37 (51%) with school absenteeism with orthostatic dysregulation, 56/87 (64%) with epilepsy, and 17/23 (74%) with cerebral palsy. Adverse events were seen in 11%, which had no association with the dosage per weight. Conclusions: We can use ramelteon safely for sleep disorders in children and adolescents with neuropsychiatric diseases, and expect its effectiveness in those patients with autism spectrum disorder, severe visual impairment, and cerebral palsy.
Objective: The deletion of 17p11.2 region is well known as the cause of Smith-Magenis syndrome (SMS) ; however, Potocki-Lupski syndrome (PTLS) caused by the duplication of the same region is not well understood in Japan. In order to clarify the actual situation of Japanese patients with PTLS, we report on the clinical information of patients diagnosed with our ongoing study. Methods: Clinical information of patients with 17p11.2 duplications, who were diagnosed by comprehensive genome copy number analyses, were compared with previously reported overseas patients. Results: Duplication of 17p11.2 region was observed in seven patients (male/female=2/5, age : 1 year 5 months to 5 years 11 months). All patients displayed psychomotor developmental delay and non-specific facial features. Hypotonia and symptoms related to autism spectrum disorder such as stereotype movements were observed in four patients, and epilepsy was found in two patients. Therefore, the phenotypic characteristics of all patients in this study were consistent with those previously reported in PTLS patients. Conclusions: SMS is relatively easy to distinguish from co-existence of congenital heart disease and characteristic facial features ; however, seven Japanese patients with PTLS identified in this study showed non-specific clinical features such as psychomotor developmental delay, hypotonia, and behavioral abnormalities. Therefore, it would be difficult to identify PTLS just based on such clinical information. We consider that it is necessary to accumulate further information on patients with PTLS for a better understanding of this syndrome.
Acute vestibular syndrome (AVS) is a condition characterized by sudden-onset dizziness, nausea, vomiting, nystagmus, and postural instability. Reported cases of AVS in children are rare. A 9-year-old girl was admitted to our hospital with dizziness, double vision, vomiting, and difficulty in walking after tonsillitis. Because apparent truncal ataxia and muscle weakness with a decline in deep tendon reflex were observed, suggesting Fisher syndrome, this case was followed up without treatment. Her symptoms of dizziness, nausea, vomiting, and nystagmus gradually improved, but muscle weakness and truncal ataxia remained. Spinal fluid examination revealed an increased number of mononuclear-dominated cells, and contrast enhanced magnetic resonance imaging (MRI) scan of the head showed abnormal contrast effects on the bilateral eighth cranial nerves at the cerebellopontine angle. An anti-ganglioside antibody test was negative for anti-GQ1b IgG and positive for anti-GM1 IgG and anti-GM2 IgG. We diagnosed her with autoimmune-mediated AVS. In autoimmune-mediated AVS, the involvement of multiple antibodies has been reported and, depending on the course of the disease, acute treatment such as Intravenous Immunoglobulin should be considered.