Hideaki Shiraishi, Kiyoshi Egawa, Kaoru Murakami, Midori Nakajima, Yuki Ueda, Sachiko Nakakubo, Masashi Narugami, Shuhei Kimura, Takeru Goto, Yasuyoshi Hiramatsu, Masaaki Murakami
OBJECTIVE: Transcutaneous auricular vagus nerve stimulation (taVNS) was performed in two patients suffering structural focal epilepsy with preserved intellectual ability to show the feasibility of taVNS for specific patient groups. CASE PRESENTATIONS: Patient 1 was a 24-year-old woman with frontal lobe epilepsy who had weekly hyperkinetic seizures despite multiple anti-seizure medications. Patient 2 was a 27-year-old woman with parietal lobe epilepsy and focal cortical dysplasia in the vicinity of the lipoma in the corpus callosum...
January 2024: Brain & Development
Yoko Matsumoto, Yuji Yoshii, Akiyo Ikutomo, Mariko Yagi, Mio Nishimura, Yoko Kawasaki, Amanda Sarafian, Heakyung Kim, David P Roye, Hiroko Matsumoto
BACKGROUND: Pediatric stroke is a rare medical condition that often leads to long-lasting motor and cognitive impairments. Although therapies for adults after a stroke are well described, treatments for motor deficits following a pediatric stroke are yet to be investigated. We report a case of pediatric stroke in the chronic phase, in which a combination of novel treatments resulted in a significant improvement in physical function. CASE REPORT: A seven-year-old girl with a left hemispheric cerebral infarction lost almost all right upper extremity motor function...
January 2024: Brain & Development
Sareh Hosseinpour, Ehsan Razmara, Morteza Heidari, Zahra Rezaei, Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Reyhaneh Kameli, Ali Hosseini Bereshneh, Hassan Vahidnezhad, Reza Azizimalamiri, Zahra Zamani, Neda Pak, Maryam Rasulinezhad, Bahram Mohammadi, Homa Ghabeli, Mohammad Ghafouri, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Sasan Saket, Bahareh Rabbani, Nejat Mahdieh, Ali Ahani, Masoud Garshasbi, Ali Reza Tavasoli
OBJECTIVE: Mitochondrial leukodystrophies (MLs) are mainly caused by impairments of the mitochondrial respiratory chains. This study reports the mutation and phenotypic spectrum of a cohort of 41 pediatric patients from 39 distinct families with MLs among 320 patients with a molecular diagnosis of leukodystrophies. METHODS: This study summarizes the clinical, imaging, and molecular data of these patients for five years. RESULTS: The three most common symptoms were neurologic regression (58...
December 21, 2023: Brain & Development
Makoto Nishioka, Mitsuo Motobayashi, Tetsuhiro Fukuyama, Yuji Inaba
BACKGROUND: Post-encephalopathic epilepsy (PEE) is a serious complication of acute encephalopathy syndromes, and is more frequent in patients with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) than in children with acute encephalopathy. However, a risk factor analysis using laboratory findings in the acute phase of AESD has not yet been performed. Therefore, the present study examined risk factors of AESD-related PEE using laboratory parameters in the acute phase of AESD...
December 18, 2023: Brain & Development
Yuki Ueda, Kiyoshi Egawa, Kentaro Kawamura, Noriki Ochi, Takeru Goto, Shuhei Kimura, Masashi Narugami, Sachiko Nakakubo, Midori Nakajima, Atsushi Manabe, Hideaki Shiraishi
BACKGROUND: Most long-term affected spinal muscular atrophy (SMA) type 1 patients have severe impairment of motor function and are dependent on mechanical ventilation with tracheostomy. The efficacy and safety of nusinersen in these patients have not been established. METHODS: We retrospectively evaluated the efficacy of intrathecal nusinersen treatment in patients with SMA type 1 who continued treatment for at least 12 months. There were three patients enrolled in our study (3, 4 and 16 years of age) who had severe impairment of gross motor function without head control or the ability to roll over...
December 15, 2023: Brain & Development
Anna Nikolaidou, Ioannis Beis, Pinelopi Dragoumi, Dimitrios Zafeiriou
Juvenile systemic lupus erythematosus (jSLE) is a chronic multisystem inflammatory disease that manifests before the age of 16 years, following a remitting - relapsing course. The clinical presentation in children is multifaceted, most commonly including constitutional, hematological, cutaneous, renal, and neuropsychiatric symptoms. Neuropsychiatric manifestations range widely, affecting approximately 14-95 % of jSLE patients. They are associated with high morbidity and mortality, particularly at a younger age...
December 6, 2023: Brain & Development
Josef Finsterer
No abstract text is available yet for this article.
December 5, 2023: Brain & Development
Mai Samejima, Mitsuko Nakashima, Jun Shibasaki, Hirotomo Saitsu, Mitsuhiro Kato
BACKGROUND: Neurooculocardiogenitourinary syndrome (NOCGUS), a multisystemic syndrome characterized by motor disorder, intellectual disability, seizures, abnormal brain structure, ocular diseases, and cardiac diseases, has been reported with missense variant of WD repeat-containing protein 37 (WDR37) in humans. This report aimed to identify the cause of NOCGUS in an affected patient. CASE PRESENTATION: We identified a de novo intronic 4-bp deletion of WDR37, c.727-27_727-24del, which were predicted to cause abnormal splicing by SpliceAI, in the patient with NOCGUS...
December 2, 2023: Brain & Development
Victoria Elizabeth De Knegt, Malene Landbo Børresen, Marianne Knudsen, Katrine Moe Thomsen, Peter Vilhelm Uldall, Anne Vagner Jakobsen, Christina Engel Hoei-Hansen
OBJECTIVE: To evaluate outcomes from hemispherectomy and callosotomy related to the need for anti-seizure medication (ASM), seizure frequency, and cognition. METHODS: A review of the medical charts of all Danish pediatric patients who underwent hemispherectomy or callosotomy from January 1996 to December 2019 for preoperative and postoperative ASM use, seizure frequency, and cognitive data. RESULTS: The median age of epilepsy onset was two years (interquartile range (IQR): 0...
December 2, 2023: Brain & Development
Robertino Dilena, Pasquale Striano, Monica Traverso, Maurizio Viri, Gloria Cristofori, Laura Tadini, Sergio Barbieri, Antonino Romeo, Federico Zara
No abstract text is available yet for this article.
November 24, 2023: Brain & Development
Dirk J J Sweere, Jos G M Hendriksen, R Jeroen Vermeulen, Sylvia Klinkenberg
INTRODUCTION: Despite the increased prevalence of comorbid attention deficit hyperactivity disorder (ADHD) in children with myotonic dystrophy type 1, the effects of methylphenidate treatment on associated cognitive deficits in this population is not yet investigated. CASE: We describe a case study of an eleven-year-old male patient with myotonic dystrophy type 1 and comorbid ADHD that was treated with methylphenidate in a twice daily regime (0.60 mg/kg/day)...
November 24, 2023: Brain & Development
Min Zhang, Gang Pan, Shuizhen Zhou, Jin Shen, Wenhui Li, Yuanfeng Zhou, Lifei Yu, Linmei Zhang
OBJECTIVE: To analyze etiologic factors of pediatric acute ataxia and to identify the severity of its underlying causes for urgent medical intervention. METHODS: Clinical data of children diagnosed with acute ataxia between December 2015 and December 2021 from one national medical center were analyzed retrospectively. RESULTS: A total of 99 children (59 boys, 40 girls), median age at disease onset 55 (range: 12-168) months, were enrolled. The median follow period was 46 (range 6-78) months...
November 23, 2023: Brain & Development
Osamu Kobayashi, Tomoki Maeda, Kenji Ihara
AIM: To clarify the relationship between early infantile spontaneous movement of very-low-birth-weight infants (VLBWIs) and sensory characteristics in childhood. STUDY DESIGN: Prospective cohort study. We investigated the association between the Motor Optimality Score-Revised (MOS-R), a detailed assessment of general movements (GMs) at the corrected age of 9-17 weeks and the Infant/Toddler Sensory Profile Japanese version (ITSP-J) at the corrected age of 3 years...
November 15, 2023: Brain & Development
Hai Xu, Xuetao Yu, Rong Xie, Yangyang Wang, Chunli Li
BACKGROUND: RE1 Silencing Transcription factor (REST) corepressor 1 (RCOR1) has been reported to orchestrate neurogenesis, while its role in cerebral palsy (CP) remains elusive. Besides, RCOR1 can interact with Endothelin-1 (EDN1), and EDN1 expression is related to brain damage. Therefore, this study aimed to explore the effects of RCOR1/EDN1 on brain damage during the progression of CP. METHODS: CP rats were established via hypoxia-ischemia insult, and injected with lentivirus-RCOR1, followed by examination of brain pathological conditions...
November 15, 2023: Brain & Development
Jiayu Zhou, Ting Gao, Wan Tang, Tianyang Qian, Ziming Wang, Pu Xu, Laishuan Wang
Neonatal hypoxic-ischemic encephalopathy (HIE) is a common disease among newborns, which is a leading cause of neonatal death and permanent neurological sequelae. Therapeutic hypothermia (TH) is the only method for the treatment of HIE that has been recognized effective clinically at home and abroad, but the efficacy is limited. Recent research suggests that the cord blood-derived mononuclear cells (CB-MNCs), which the refer to blood cells containing one nucleus in the cord blood, exert anti-oxidative, anti-inflammatory, anti-apoptotic effects and play a neuroprotective role in HIE...
November 2023: Brain & Development
Mari Akiyama, Tomoyuki Akiyama, Hirotomo Saitsu, Yukie Tokioka, Rie Tsukahara, Hiroki Tsuchiya, Takashi Shibata, Katsuhiro Kobayashi
BACKGROUND: MECP2 is a well-known causative gene for Rett syndrome but other phenotypes have also been reported. Here, we report a case of a female patient with adolescent-onset progressive myoclonus epilepsy (PME) carrying a novel truncating mutation in the MECP2 gene. CASE REPORT: The patient was a 29-year-old woman with infantile-onset intellectual disability of unspecified cause. She had demonstrated slow but steady development with moderate intellectual disability until the age of 16, when she started having epileptic seizures...
November 2023: Brain & Development
Yuki Ueda, Ayako Furugen, Masaki Kobayashi, Yasuyuki Sato, Yasuhiro Ueda, Asako Hayashi, Takeru Goto, Shuhei Kimura, Masashi Narugami, Sachiko Nakakubo, Midori Nakajima, Kiyoshi Egawa, Takayuki Okamoto, Atsushi Manabe, Hideaki Shiraishi
BACKGROUND: Lacosamide (LCM) has become commonly used for focal onset seizures due to its high tolerability and low drug interactions. Unlike patients on hemodialysis (HD), pharmacokinetic data and dosing recommendations for patients undergoing peritoneal dialysis (PD) are scant. CASE REPORT: A 2-year-old girl with end-stage kidney disease undergoing PD suffered prolonged focal onset seizures. The patient had congenital anomalies of the kidney and urinary tract associated with branchio-oto-renal syndrome due to an EYA1 gene mutation...
October 30, 2023: Brain & Development
Yoko Kobayashi Takahashi, Itaru Hayakawa, Yuichi Abe
BACKGROUND AND OBJECTIVES: A gap exists between difficulty in diagnosis and importance of early recognition and intervention in pediatric Guillain-Barré syndrome (GBS). Therefore, this study aimed to establish a diagnostic odyssey plot that allows "at-a-glance" overview of the diagnostic odyssey of GBS in children, including overall diagnostic delay, physician-related and patient-related diagnostic delays, and length and frequency of diagnostic errors. METHODS: In this single-center retrospective cohort study, standardized data were obtained from children with GBS from 2003 to 2020...
October 30, 2023: Brain & Development
Mika Nakazawa, Shinpei Abe, Mitsuru Ikeno, Taiki Shima, Toshiaki Shimizu, Akihisa Okumura
BACKGROUND: Adenovirus is a major pathogen causing febrile illness among children. It may also cause acute encephalitis/encephalopathy. This study aimed to elucidate the clinical features of adenovirus-associated encephalitis/encephalopathy (AdVE) among children in Japan. METHODS: A nationwide survey of children with AdVE was conducted. An initial survey was distributed among pediatricians to obtain information about children with AdVE treated between January 2014 and March 2019...
October 24, 2023: Brain & Development
Masazumi Matsuda, Toshiki Murata, Takahiro Otani, Kenji Yoshida, Yui Sanpei, Katsunori Iijima, Hajime Nakae, Naoko Mori
No abstract text is available yet for this article.
October 21, 2023: Brain & Development
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