Tomokazu Kimizu, Shinobu Ida, Keisuke Oki, Morimasa Shima, Shizuka Nishimoto, Ken Nakajima, Tae Ikeda, Yukiko Mogami, Keiko Yanagihara, Keiko Matsuda, Eriko Nishi, Yuiko Hasegawa, Masatoshi Nozaki, Hiroshi Fujita, Akemi Irie, Toru Katayama, Nobuhiko Okamoto, Kohsuke Imai, Hisahide Nishio, Yasuhiro Suzuki
OBJECTIVE: This study aimed to establish an optional newborn screening program for spinal muscular atrophy (SMA-NBS) in Osaka. METHODS: A multiplex TaqMan real-time quantitative polymerase chain reaction assay was used to screen for SMA. Dried blood spot samples obtained for the optional NBS program for severe combined immunodeficiency, which covers about 50% of the newborns in Osaka, were used. To obtain informed consent, participating obstetricians provided information about the optional NBS program to all parents by giving leaflets to prospective parents and uploading the information onto the internet...
March 25, 2023: Brain & Development
Patrick H Hosie, Carylyn Lim, Timothy R D Scott, Michael Cardamone, Michelle A Farrar, Catherine Frith, Peter I Andrews, Jason Pinner, Sekhar Pillai
BACKGROUND: Acute necrotizing encephalopathy (ANE) of childhood is a rare and devastating infection-associated acute encephalopathy. While there are no consensus treatments for ANE, recent case reports suggest a beneficial role for the use of tocilizumab, a recombinant humanized monoclonal antibody against the interleukin-6 (IL-6) receptor. The correlation of the timing of add-on tocilizumab in relation to long-term outcome has not been reported. METHODS: We report on the timing of administration of tocilizumab in two patients classified as high-risk using the ANE severity score (ANE-SS) with respect to the long-term outcome at 2 years...
March 24, 2023: Brain & Development
Masafumi Morimoto
No abstract text is available yet for this article.
March 24, 2023: Brain & Development
Katsuhiro Kobayashi
No abstract text is available yet for this article.
March 23, 2023: Brain & Development
Tatsuo Mori, Masamune Sakamoto, Takahiro Tayama, Aya Goji, Yoshihiro Toda, Atsushi Fujita, Takeshi Mizuguchi, Maki Urushihara, Naomichi Matsumoto
INTRODUCTION: Epilepsy with myoclonic atonic seizures (EMAtS) was previously thought to occur in normally developing children. We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient. CASE PRESENTATION: The patient was a 4-year-old girl. Mild developmental delay was observed during infancy. At the age of one and a half years, she developed atonic seizures once a month...
March 23, 2023: Brain & Development
Shunsuke Haga, Ryo Takeguchi, Ryosuke Tanaka, Akira Satake, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
BACKGROUND: Muscle cramps are a common problem characterized by a sudden, painful, and involuntary contraction of a muscle or muscle group. Most muscle cramps develop in the calf muscles, particularly in situations of prolonged exercise; however, some may be related to underlying systemic conditions such as the hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome. Muscle cramps appear to be the initial symptom of the HANAC syndrome; however, the clinical characteristics of these muscle cramps have rarely been described in detail...
March 13, 2023: Brain & Development
Kazue Kimura, Nagako Murase, Yuri Nagao, Maki Nozaki, Michio Fukumizu, Yosuke Kita, Masaharu Hayashi, Kyoko Hoshino
OBJECTIVE: Tourette syndrome (TS) is a neurobehavioral disorder characterized by motor and vocal tics. Simple tics are purposeless involuntary movements that spontaneously resolve during middle adolescence. Complex tics appear to be semi-voluntary movements that may become intractable when associated with obsessive-compulsive disorder (OCD). Sensory tics or urges preceded by tics suggest sensorimotor processing impairment in TS. We aimed to clarify its pathophysiology by exploring the pre-movement gating (attenuation) of somatosensory evoked potentials (SEPs)...
March 4, 2023: Brain & Development
Sujuan Sun, Xiangliang Li, Xuewu Liu
OBJECTIVE: Perampanel (PER) is a novel antiepileptic drug. The efficacy, tolerability and safety of PER in children and adolescents with epilepsy are still unclear. We aimed to study the efficacy and safety of PER in children and adolescents with epilepsy. METHODS: We searched PubMed, Embase and Cochrane Library for relevant literature up to November 2022. Then we extracted the relevant data from eligible literature for systematic review and meta-analysis. RESULT: Twenty-one studies involving 1968 children and adolescent patients were included...
March 4, 2023: Brain & Development
Hideaki Shiraishi, Tsuyoshi Teramoto, Saki Yokoshiki, Jun Tohyama, Yuki Ueda, Kiyoshi Egawa, Norihiro Sato, Atsushi Manabe, Mitsuhiro Kato
OBJECTIVE: The efficacy of the mechanistic target of rapamycin inhibitor, sirolimus, was recently reported for patients more than 6 years of age by Kato et al. We evaluated the efficacy and safety of sirolimus in a 2-year-old patient with recurrent focal seizures with impaired consciousness after focal cortical dysplasia (FCD) type IIa resection. METHODS: The patient was a 2-year-old girl who had recurrent seizures after undergoing FCD resection at 4 months of age...
March 2, 2023: Brain & Development
Yoshiyuki Suzuki
Chaperone therapy was introduced first as a new molecular therapeutic approach to lysosomal diseases. In a recent article, I reviewed the development of chaperone therapy mainly for lysosomal diseases. Then, more data have been collected particularly on non-lysosomal protein misfolding diseases. In this short review, I propose the concept of chaperone therapy to be classified into two different therapeutic approaches, for pH-dependent lysosomal, and pH-independent non-lysosomal protein misfolding diseases. The concept of lysosomal chaperone therapy is well established, but the non-lysosomal chaperone therapy is heterogeneous and to be investigated further for various individual diseases...
March 2, 2023: Brain & Development
Seoyun Jang, Soo Yeon Kim, Woo Joong Kim, Jong-Hee Chae, Ki Joong Kim, Byung Chan Lim
BACKGROUND: Anti-leucine-rich glioma-inactivated 1 (LGI1) encephalitis is a rare type of autoimmune encephalitis. A characteristic faciobrachial dystonic seizure (FBDS) is also frequently associated with this disease. Although primarily reported in the adult population, reports of its occurrence in the pediatric population are rare. Here, we describe a case of a 6-year-old girl diagnosed with anti-LGI1 encephalitis that presented with cognitive decline and FBDS. CASE PRESENTATION: The girl was referred to a pediatric neurology department for uncontrolled seizures and dyskinesia...
February 27, 2023: Brain & Development
Katsuhiro Kobayashi
No abstract text is available yet for this article.
February 22, 2023: Brain & Development
Shoko Yoshii, Rina Fukui, Shinya Hattori, Ryo Yamaguchi, Ryo Fujimoto, Hiromi Aoyama, Taku Omata
BACKGROUND: Focal cerebral arteriopathy (FCA) is a common cause of childhood arterial ischemic stroke in previously healthy children. Although its mechanisms are poorly understood, recent studies have suggested inflammatory processes. Magnetic resonance vessel wall imaging (VWI) is a potential imaging biomarker of inflammation. CASE DESCRIPTION: We describe the case of a 7-year-old Japanese girl with right hemiplegia and dysarthria for 3 days. Brain MRI showed acute infarct in the left basal ganglia, and MRA and conventional cerebral angiogram detected vascular stenosis in the left distal internal carotid artery, left M1 and A1 segments...
February 17, 2023: Brain & Development
Satomi Okano, Akiko Araki, Kayano Kimura, Ikue Fukuda, Akie Miyamoto, Hajime Tanaka
BACKGROUND: Good sleep is essential for children's healthy growth. In 2005, we conducted a questionnaire survey on children's sleep habits and their background, targeting parents who attended health checkups for their 3-year-old children in Asahikawa City, Hokkaido. In 2020, we performed a secondary survey, including additional questions regarding media usage. We analyzed changes in children's sleep environment by comparing the results of both surveys. METHODS: Children from 500 families (n = 420; 219 males, 201 females; mean age, 3...
February 17, 2023: Brain & Development
Chiara Panicucci, Sara Casalini, Beatrice M Damasio, Noemi Brolatti, Marina Pedemonte, Alessandra Biolcati Rinaldi, Simone Morando, Luca Doglio, Lizzia Raffaghello, Chiara Fiorillo, Federico Zara, Giorgio Tasca, Claudio Bruno
INTRODUCTION: POMT2-related limb girdle muscular dystrophy (LGMDR14) is a rare muscular dystrophy caused by mutations in the POMT2 gene. Thus far only 26 LGMDR14 subjects have been reported and no longitudinal natural history data are available. CASE REPORT: We describe two LGMDR14 patients followed for 20 years since infancy. Both patients presented a childhood-onset, slowly progressive pelvic girdle muscular weakness leading to loss of ambulation in the second decade in one patient, and cognitive impairment without detectable brain structural abnormalities...
February 14, 2023: Brain & Development
Hiroaki Hanafusa, Hiroshi Yamaguchi, Hidehito Kondo, Miwako Nagasaka, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Masahiro Nishiyama, Naoya Morisada, Masafumi Matsuo, Kandai Nozu, Hiroaki Nagase
OBJECTIVE: Hemorrhagic shock and encephalopathy syndrome (HSES) is a serious condition that requires intensive care and is associated with a high mortality rate. However, its pathogenesis remains unclear. In the present study, a genetic analysis was performed to determine the genetic background of patients with clinically suspected Dravet syndrome (DS) who developed HSES. METHODS: Whole exome sequencing was performed, followed by minigene analysis of the intron variant detected by whole exome sequencing to confirm its effect on splicing...
February 9, 2023: Brain & Development
Pınar Özkan Kart, Senol Citli, Nihal Yildiz, Ali Cansu
BACKGROUND: The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant pons and cerebellum involvement. CASE REPORTS: A seven-year-old girl with pontocerebellar hypoplasia, resistant myoclonic epilepsy with axial hypotonia, microcephaly, atypical facial appearance, nystagmus, ophthalmoplegia, hyperactive tendon reflexes, spasticity, clonus, extensor plantar response, contractures in wrists and ankles and growth retardation, whole-exome sequencing was performed and a homozygous "NM_001134225...
February 7, 2023: Brain & Development
Yoshiaki Yamamoto, Akiko Ohta, Naotaka Usui, Katsumi Imai, Yoshiyuki Kagawa, Yukitoshi Takahashi
PURPOSE: To identify pediatric patients who require therapeutic drug monitoring (TDM) of levetiracetam (LEV). METHODS: We retrospectively investigated 2413 routine therapeutic drug monitoring data on serum LEV concentration from 1398 pediatric patients (age, 0-15 years). Samples were grouped by age (infants, < 1 year; preschool children, 1-5 years; primary school children, 6-11 years; and adolescents, 12-15 years), and the LEV concentration-to-dose (CD) ratio was calculated...
February 7, 2023: Brain & Development
Hideki Uchikawa, Seika Yamoto, Mika Saito
BACKGROUND: Individuals who visit hospitals with neurodevelopmental disorders have recently increased. To locate the cause for this increase, various factors, such as environmental and genetic ones, are being investigated. The objective of this study is to analyze the developmental delay in children and their background. METHODS: The participants were children who underwent the checkup for 18-month-old children in Togane city, Japan, from 2011 to 2021; 4,145 children-2,147 boys and 1,998 girls with a mean age of 18...
February 1, 2023: Brain & Development
Claudia Maria Bonardi, Giulia Melinda Furlanis, Irene Toldo, Brando Guarrera, Concetta Luisi, Andrea Pettenazzo, Margherita Nosadini, Clementina Boniver, Stefano Sartori, Andrea Landi
BACKGROUND: Febrile infection-related epilepsy syndrome (FIRES) is a rare and catastrophic clinical syndrome occurring in previously healthy patients. Aetiology is still unknown and outcome usually poor. We describe a case of myoclonic prolonged super refractory status epilepticus (P-SRSE) in FIRES in a patient admitted to the paediatric intensive care unit of Padova, Italy. CASE REPORT: A previously healthy 14-year-old girl with onset of myoclonic status epilepticus after a mild febrile illness was admitted to our hospital with a diagnosis of FIRES...
January 30, 2023: Brain & Development
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