A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing
Congenital disorders of glycosylation (CDG) are inherited inborn errors of metabolism due to abnormal protein and lipid glycosylation that present with multi-systemic manifestations. The heterogeneity of CDG poses a serious diagnostic challenge; therefore, whole-exome sequencing (WES), which plays an increasingly important role in the molecular diagnosis of CDG, is used for examining patients with CDG. (Source: Brain and Development)
Source: Brain and Development - July 27, 2022 Category: Neurology Authors: Yuto Arai, Tohru Okanishi, Sotaro Kanai, Tetsuya Okazaki, Eriko Koshimizu, Satoko Miyatake, Yukinori Maeoka, Ayataka Fujimoto, Naomichi Matsumoto, Yoshihiro Maegaki Tags: Case Report Source Type: research
Guillain-Barr é syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region
Guillain-Barr é syndrome (GBS) is a rare acquired immune-mediated polyneuropathy. Updated population-based data concerning paediatric GBS is needed. (Source: Brain and Development)
Source: Brain and Development - July 26, 2022 Category: Neurology Authors: Annie Ting Gee Chiu, Ricky Wing Ki Chan, Maggie Lo Yee Yau, Angus Chi Lap Yuen, Alva King Fai Lam, Shirley Wai Yin Lau, Alan Ming Chung Lau, Sharon Tsui Hang Fung, Kam Hung Ma, Christine Wai Ling Lau, Man Mut Yau, Chun Hung Ko, Kwing Wan Tsui, Che Kwan Ma Tags: Original article Source Type: research
Cranial shapes of Japanese preterm infants at one month of age using a three-dimensional scanner
Recently, cranial shape measurements of preterm infants have been performed using handheld three-dimensional (3D) scanners and can now be objectively quantified. (Source: Brain and Development)
Source: Brain and Development - July 26, 2022 Category: Neurology Authors: Hiroshi Miyabayashi, Nobuhiko Nagano, Risa Kato, Shin Hashimoto, Katsuya Saito, Takanori Noto, Shoko Ohashi, Ken Masunaga, Ichiro Morioka Tags: Original article Source Type: research
Fosphenytoin dosing regimen including optimal timing for the measurement of serum phenytoin concentration in pediatric patients
We aimed to evaluate the pediatric fosphenytoin dosing regimen, including optimal timing for the measurement of total serum phenytoin concentration (CPHT). (Source: Brain and Development)
Source: Brain and Development - July 22, 2022 Category: Neurology Authors: Go Okamoto, Emari Furuya, Kanae Terada, Kumi Yasukawa, Jun-ichi Takanashi, Emiko Kobayashi Tags: Original article Source Type: research
Establishment of an objective index for the diagnosis of attention deficit/hyperactivity disorder by the continuous performance test “MOGRAZ”
The diagnosis of attention deficit/hyperactivity disorder (AD/HD) in Japan is mainly based on information obtained from caregivers. There is therefore a need to establish an objectivity index that can be easily used in clinical practice. The purpose of the study was to create a predictive model for the diagnosis of AD/HD using the MOGRAZ, a visual continuous performance test developed in Japan. (Source: Brain and Development)
Source: Brain and Development - July 22, 2022 Category: Neurology Authors: Tsunehiko Kurokami, Hisao Kobayashi, Moe Nakajima, Masashi Mikami, Tatsuya Koeda Tags: Original article Source Type: research
Water intoxication: A clue to the presence of classical Fabry disease
In patients with Fabry disease, early diagnosis and enzyme replacement therapy improve the quality of life [1,2]. However, early diagnosis is sometimes difficult because the symptoms considerably vary. Here, we describe a patient whose water intoxication aided the diagnosis of classical Fabry disease. The parents of the patient kindly gave us written informed consent for publication of the patient ’s detailed medical history. (Source: Brain and Development)
Source: Brain and Development - July 18, 2022 Category: Neurology Authors: Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Takehiko Inui, Noriko Togashi, Hiroko Yanagisawa, Yoshikatsu Eto, Kazuhiro Haginoya Tags: Letter to the Editor Source Type: research
Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate
The coronavirus disease 2019 (COVID-19), including the Omicron variant, is less severe in children than in adults. To date, there has been no detailed description of COVID-19-associated severe encephalopathy due to the Omicron variant during the neonatal and early infantile periods. (Source: Brain and Development)
Source: Brain and Development - July 12, 2022 Category: Neurology Authors: Kenichi Tetsuhara, Satoshi Akamine, Yoshie Matsubara, Shunsuke Fujii, Wataru Kashimada, Kentaro Marutani, Michiko Torio, Yuya Morooka, Nozomu Hanaoka, Tsuguto Fujimoto, Haruna Nakamura-Miwa, Satoru Arai, Keiko Tanaka-Taya, Kenji Furuno, Yumi Mizuno, Ryuta Tags: Case Report Source Type: research
A pediatric case of autoimmune glial fibrillary acidic protein astrocytopathy with unique brain imaging patterns and increased cytokines/chemokines
Autoimmune anti-glial fibrillary acidic protein (GFAP) astrocytopathy represents a new spectrum of autoimmune inflammatory central nervous system disorders. In recent years, there have been an increasing number of reports on pediatric patients with this disease other than those in Japan. (Source: Brain and Development)
Source: Brain and Development - July 12, 2022 Category: Neurology Authors: Naohiro Yamamoto, Takeshi Inoue, Ichiro Kuki, Kohei Matsubara, Naoki Yamada, Shizuka Nagase-Oikawa, Keisuke Oki, Megumi Nukui, Shin Okazaki, Hiroshi Sakuma, Akio Kimura, Takayoshi Shimohata, Hisashi Kawawaki Tags: Case Report Source Type: research
Reply: Amnestic aphasia in MELAS can be epileptogenic
We thank Finsterer [1] for his interest of our article, “Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes” [2]. (Source: Brain and Development)
Source: Brain and Development - July 7, 2022 Category: Neurology Authors: Yurie Sakata, Takuji Nakamura, Muneaki Matsuo Tags: Letter to the Editor Source Type: research
Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a treatable neurometabolic disease caused by variants in SLC19A3. Typical imaging features include symmetrical involvement of the caudate nuclei and putamina. (Source: Brain and Development)
Source: Brain and Development - July 7, 2022 Category: Neurology Authors: Hanin Alsini, Aisha Alnozha, Zeeshan Asmat, Khalid Hundallah, Majid Alfadhel, Brahim Tabarki Tags: Original article Source Type: research
Stimulus-induced focal motor seizure in a pediatric patient with carbamazepine overdose
Carbamazepine (CBZ) is a common antiepileptic drug that may cause overdoses with seizures as a common neurological manifestation. In previous reports, patients with CBZ overdose exhibited stimulus-induced generalized clinical or electrical seizures. To date, no previous cases of focal motor seizures have been reported. (Source: Brain and Development)
Source: Brain and Development - July 6, 2022 Category: Neurology Authors: Kento Ohta, Tohru Okanishi, Sotaro Kanai, Yuko Nakamura, Ayataka Fujimoto, Yoshihiro Maegaki Tags: Case Report Source Type: research
Power and connectivity changes on electroencephalogram in postoperative cerebellar mutism
Cerebellar mutism syndrome is a debilitating postoperative neurological complication following posterior fossa surgery in children. It is characterized by a significant lack or loss of speech. Injury to the dentato-thalamo-cortical pathway is thought to be the main anatomical substrate of cerebellar mutism syndrome; however, few studies have investigated the physiological changes using computed electroencephalogram. (Source: Brain and Development)
Source: Brain and Development - July 5, 2022 Category: Neurology Authors: Yuto Arai, Tohru Okanishi, Masayoshi Oguri, Sotaro Kanai, Ayataka Fujimoto, Yoshihiro Maegaki Tags: Case Report Source Type: research
Verification of the ability of the new MRI classification system to predict neurodevelopmental outcome in very low-birth-weight infants
Very low-birth-weight infants (VLBWI) are at high risk for adverse neurodevelopmental outcomes. A new, feasible and practical classification system for white matter injury has been reported by Martinez-Biarge et al. Therefore, we investigated the relationship between white matter injury and neurodevelopmental outcomes using this system. (Source: Brain and Development)
Source: Brain and Development - July 4, 2022 Category: Neurology Authors: Masakazu Nishimoto, Katsumi Hayakawa, Koichi Tanda, Daisuke Kinoshita, Akira Nishimura, Zenro Kizaki, Kei Yamada Source Type: research
The Japanese version of the children ’s sleep habits questionnaire (CSHQ-J): A validation study and influencing factors
This study aimed to validate the Japanese version of the Child ’s Sleep Habits Questionnaire (CSHQ-J) and identify which factors affect the CHSQ-J total score. (Source: Brain and Development)
Source: Brain and Development - June 30, 2022 Category: Neurology Authors: Ryuta Ishii, Hitoshi Obara, Shinichiro Nagamitsu, Michiko Matsuoka, Masao Suda, Koutaro Yuge, Takeshi Inoue, Ryoichi Sakuta, Yasunori Oka, Tatsuyuki Kakuma, Toyojiro Matsuishi, Yushiro Yamashita Tags: Original article Source Type: research
Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody
X-linked lymphoproliferative disease type 1 (XLP1) is a rare monogenic immune dysregulation disorder caused by a deficiency of a signaling lymphocyte activation molecule-associated protein (SAP). While many patients with XLP1 present with fatal hemophagocytic lymphohistiocytosis upon Epstein Barr virus (EBV) infection, a small fraction present with limbic encephalitis in the absence of EBV infection. It is poorly understood why SAP deficiency may cause limbic encephalitis in XLP1. (Source: Brain and Development)
Source: Brain and Development - June 28, 2022 Category: Neurology Authors: Satoru Ochiai, Itaru Hayakawa, Eri Ohashi, Sho Hamano, Yohane Miyata, Hiroshi Sakuma, Keita Hogetsu, Yoshihiro Gocho, Masao Ogura, Toru Uchiyama, Yuichi Abe Tags: Case Report Source Type: research
