Masaya Kubota

Background: Novel coronavirus disease (COVID‐19) outbreaks have dramatically changed lifestyles, with various effects on the physical and mental health of families and children with various childhood‐onset neurological diseases. A questionnaire survey was conducted to identify family‐specific issues and needs of patients with congenital insensitivity to pain with anhidrosis (CIPA) during major changes in their daily lives due to the COVID‐19 outbreaks.Methods: An anonymous questionnaire was sent to 56 families that were members of the Association of Patients and Families of CIPA in Japan between October and November 2020, the first 2 months of the third outbreak.Results: Thirty‐eight families (67.2% response rate) responded to the questionnaire. The current concerns of the parents were (1) difficulty in predicting the future (19 parents, 50%), (2) household and work concerns (eight parents, 21.1%), and (3) whether they would become infected (25 parents, 65.8%). Fifteen families indicated stress due to increased time together (stress + group), and 10 families had a better understanding of each other due to increased time together. New sleep disturbances and behavioral changes were observed in approximately 20% and 50% of patients with CIPA, respectively. No single factor could explain family stress. There were also free descriptions of the importance of peer support, connections with experts, and prompt responses for resolution.Conclusions: Each family has its own way of coping with multiple factors that contribute to the stress of the patient and family. A long‐established resilience to the disease proved effective during this pandemic.

Background: The role of antibiotics in the treatment of Shiga toxin-producing Escherichia coli (STEC) infection is controversial. Objectives: To evaluate the association between treatment (antibiotics, antidiarrheal agents, and probiotics) for STEC infection and hemolytic uremic syndrome (HUS) development. Patients and methods: We performed a population-based matched case-control study using the data from the National Epidemiological Surveillance of Infectious Diseases (NESID) between January 1, 2017 and December 31, 2018. We identified all patients with STEC infection and HUS as cases and matched patients with STEC infection without HUS as controls, with a case-control a ratio of 1:5. Further medical information was obtained by a standardized questionnaire. Multivariable conditional logistic regression model was used. Results: 7760 patients with STEC infection were registered in the NESID. 182 patients with HUS and 910 matched controls without HUS were selected. 90 patients with HUS (68 children and 22 adults) and 371 patients without HUS (266 children and 105 adults) were included in the main analysis. The matched ORs of any antibiotics and fosfomycin for HUS in children were 0.56 (95% CI 0.32–0.98), 0.58 (0.34–1.01). The matched ORs for HUS were 2.07 (1.07–4.03), 0.86 (0.46−1.61) in all ages treated with antidiarrheal agent and probiotics. Conclusions: Antibiotics, especially fosfomycin, may prevent the development of HUS in children, while use of antidiarrheal agents should be avoided.

Landau–Kleffner syndrome (LKS) is a rare neurological disorder characterized by acquired aphasia. LKS presents with distinctive electroencephalography (EEG) findings, including diffuse continuous spike and wave complexes (CSW), particularly during sleep. There has been little research on the mechanisms of aphasia and its origin within the brain and how it recovers. We diagnosed LKS in a 4-year-old female with an epileptogenic zone located primarily in the right superior temporal gyrus or STG (nondominant side). In the course of her illness, she had early signs of motor aphasia recovery but was slow to regain language comprehension and recover from hearing loss. We suggest that the findings from our patient's brain imaging and the disparity between her recovery from expressive and receptive aphasias are consistent with the dual-stream model of speech processing in which the nondominant hemisphere also plays a significant role in language comprehension. Unlike aphasia in adults, the right-hemisphere disorder has been reported to cause delays in language comprehension and gestures in early childhood. In the period of language acquisition, it requires a process of understanding what the words mean by integrating and understanding the visual, auditory, and contextual information. It is thought that the right hemisphere works predominantly with respect to its integrating role.

KARS encodes lysyl-tRNA synthetase, which is essential for protein translation. KARS mutations sometimes cause impairment of cytoplasmic and mitochondrial protein synthesis, and sometimes lead to progressive leukodystrophies with mitochondrial signature and psychomotor regression, and follow a rapid regressive course to premature death. There has been no disease-modifying therapy beyond supportive treatment. We present a 5-year-old male patient with an asymmetrical leukodystrophy who showed overt evidence of mitochondrial dysfunction, including elevation of lactate on brain MR spectroscopy and low oxygen consumption rate in fibroblasts. We diagnosed this patient's condition as KARS-related leukodystrophy with cerebral calcification, congenital deafness, and evidence of mitochondrial dysfunction. We employed a ketogenic diet as well as multiple vitamin supplementation with the intention to alleviate mitochondrial dysfunction. The patient showed alleviation of his psychomotor regression and even partial restoration of his abilities within 4 months. This is an early report of a potential disease-modifying therapy for KARS-related progressive leukodystrophy without appreciable adverse effects.

The efficacy of antipyretics for preventing febrile seizure recurrence has been reported by a recent study, and the results might overturn previous evidence. We systematically reviewed the efficacy of antipyretics in the prevention of febrile seizure recurrence in children focused on the timing of its administration. We searched the Medline, Embase, and Cochrane Central Register of Controlled Trials databases for randomized and quasi-randomized trials and prospective non-randomized studies of aged up to 60 months, diagnosed with febrile seizure, who were treated with antipyretics. Data were extracted from eight studies. Only one study reported that antipyretics prevented the recurrence of febrile seizures within the same fever episode (9.1% in the acetaminophen group vs. 23.5% in the control group, p < 0.01). Four studies found no evidence for the efficacy of antipyretics in preventing febrile seizure recurrence in distant fever episodes (odds ratio, 0.92; 95% confidence interval, 0.57–1.48, for two randomized controlled studies). Conclusion: This review provides very limited support for the use of antipyretics in preventing febrile seizure recurrence within the same fever episode and no evidence for its use in distant fever episodes. New studies are required to evaluate this topic further and determine whether the effectiveness of antipyretics is based on intervention timing. What is Known: • Reviews of prophylactic drug management among febrile seizure children found that antipyretics had no significant benefits. • Recent data suggest that antipyretics are effective in preventing febrile seizures. What is New: • Weak evidence suggests a possible role in preventing febrile seizure recurrence within the same fever episode. • There is clearly no role for antipyretic prophylaxis in preventing febrile seizures during distant fever episodes.

Background: Cardiac arrhythmias are sometimes encountered in patients with hereditary myopathies and muscular dystrophies. Description of arrhythmias in myopathies and muscular dystrophies is very important, because arrhythmias have a strong impact on the outcomes for these patients and are potentially treatable. Case presentation: A girl with severe congenital RYR1-related myopathy exhibited atrial tachycardia and sinus node dysfunction during infancy. She was born after uncomplicated caesarian delivery. She showed no breathing, complete ophthalmoplegia, complete bulbar paralysis, complete facial muscle paralysis, and extreme floppiness. At 5 months old, she developed persistent tachycardia around 200–210 beats per minutes. Holter monitoring revealed ectopic atrial tachycardia during tachyarrhythmia and occasional sinus pauses with junctional escape beats. Propranolol effectively alleviated tachyarrhythmia but was discontinued due to increased frequency and duration of the sinus pauses that led to bradyarrhythmia. There was no evidence of structural heart diseases or heart failure. The arrhythmia gradually resolved spontaneously and at 11 months old, she showed complete sinus rhythm. Conclusions: Although supraventricular arrhythmia is sometimes encountered in congenital myopathies, this is the first report of cardiac arrhythmia requiring drug intervention in RYR1-associated myopathy.