Spontaneous and reflex movements after diagnosis of clinical brain death: A lesson from acute encephalopathy
Organ transplantation after brain death (BD) of the donor has been promoted in many countries as an established medical treatment. However, some problems with brain-dead organ transplantation have been reported. For example, there is no evidence as to the optimal observation period for a diagnosis and no evidence to support the interpretation of the various body movements observed after the determination of BD. (Source: Brain and Development)
Source: Brain and Development - June 23, 2022 Category: Neurology Authors: Masaya Kubota, Yuichi Abe, Nao Nishimura, Satoshi Nakagawa, Noboru Yoshida Tags: Case Report Source Type: research
The most severe form of LMNA-associated congenital muscular dystrophy
We report a case of LMNA-associated congenital muscular dystrophy in which the patient did not achieve head control and experienced facial muscle weakness. (Source: Brain and Development)
Source: Brain and Development - June 18, 2022 Category: Neurology Authors: Yuka Murofushi, Itaru Hayakawa, Yuichi Abe, Hiro Nakao, Hiroshi Ono, Masaya Kubota Tags: Case Report Source Type: research
Early-onset spontaneously relieved spasms of infancy in sleep: Electroclinical characteristics and differential diagnoses
Infantile spasm-like paroxysms are often difficult to classify as epileptic or non-epileptic. We aimed to study spontaneously relieved (non-epileptic) spasms of infancy in sleep. Elucidation of the electroclinical characteristics and differential diagnoses of such spasms could facilitate accurate diagnosis in the future. (Source: Brain and Development)
Source: Brain and Development - June 16, 2022 Category: Neurology Authors: Qiao Hu, Yuanyuan Luo, Tingsong Li, Jiannan Ma, Jin Chen, Siqi Hong, Shuang Liao, Li Jiang Tags: Original article Source Type: research
Amnestic aphasia in MELAS can be epileptogenic
Referring to the article by Sakata et al. we disagree with the diagnosis “thalamic aphasia” [1]. Since thalamic lesions can be associated with status epilepticus (SE) [2], it is crucial that SE has been ruled out2. Therefore, we should know if creatine-kinase (CK) was elevated to 5883 U/l due to myopathy, the stroke-like lesion (SLL), cardiomyopathy, or a SE. Becaus e periodic lateralised epileptiform discharges (PLEDs) can be the manifestation of a non-convulsive/minimal convulsive SE [3], we should know if a SE was recorded on electroencephalography (EEG) on hospital-day 8 and why midazolam was administered. (Source...
Source: Brain and Development - June 14, 2022 Category: Neurology Authors: Josef Finsterer Tags: Letter to the Editor Source Type: research
Current care practices for patients with Duchenne muscular dystrophy in China
The coronavirus disease (COVID-19) pandemic has presented challenges in the care of patients with chronic diseases. We identified the challenges faced by Chinese patients with Duchenne muscular dystrophy (DMD) during the pandemic. (Source: Brain and Development)
Source: Brain and Development - June 9, 2022 Category: Neurology Authors: Shu Zhang, Shaoxia Wang, Yuru Dong, Xinyu Chen, Miao Hu, Sen Kou, Chunyan Zhang, Shiwen Wu, Yaping Tian Tags: Original article Source Type: research
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities
Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is disrupted with low-normal cerebrospinal fluid (CSF) 5,10-methenyltetrahydrofolate levels, while peripheral folate levels are normal. (Source: Brain and Development)
Source: Brain and Development - June 6, 2022 Category: Neurology Authors: Dilek Cavusoglu, Melis Kose, Esra Er, Muhsin Elmas, Pinar Gencpinar, Nihal Olga ç Dundar, Kursad Aydin Tags: Case Report Source Type: research
Geniospasm: A systematic review on natural history, prognosis, and treatment
Geniospasm (GSM) is a rare disorder, characterised by paroxysmal, involuntary, vertical movement of the chin and/or lower lip [1 –3]. It is often described as quivering or trembling of the chin, caused by repetitive bilateral mentalis muscle contractions of variable amplitude [4,5]. (Source: Brain and Development)
Source: Brain and Development - June 4, 2022 Category: Neurology Authors: Lip-Yuen Teng, Dianah Abd Hadi, Poorani Anandakrishnan, Sumitha Murugesu, Teik-Beng Khoo, Ahmad Rithauddin Mohamed Tags: Review article Source Type: research
Late relapse of anti-N-methyl-d-aspartate receptor encephalitis with amusia and transiently reduced uptake in 123I-iomazenil single-photon emission computed tomography
We report a case of anti-NMDAR encephalitis relapse with amusia 10 years after the initial encephalitis and discuss the usefulness of 123I-iomazenil single-photon emission computerized tomography (IMZ-SPECT) f or its diagnosis. (Source: Brain and Development)
Source: Brain and Development - June 2, 2022 Category: Neurology Authors: Naoki Yamada, Ichiro Kuki, Taeka Hattori, Naohiro Yamamoto, Shizuka Nagase, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Hisashi Kawawaki, Asako Horino, Hiroshi Sakuma Tags: Case Report Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - May 27, 2022 Category: Neurology Source Type: research
Announcements
(Source: Brain and Development)
Source: Brain and Development - May 27, 2022 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - May 27, 2022 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - May 27, 2022 Category: Neurology Source Type: research
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency
AICA (5-aminoimidazole-4-carboxamide) ribosiduria is an inborn error in purine biosynthesis caused due to biallelic pathogenic variants in the 5-aminoimidazole-4-carboxamide ribonucleotide-formyltransferase/imp cyclohydrolase (ATIC) gene located on chromosome 2q35. ATIC codes for a bifunctional enzyme, AICAR transformylase and inosine monophosphate (IMP) cyclohydrolase, which catalyse the last two steps of de novo purine synthesis. This disorder has been previously reported in only 4 cases worldwide, and herein, we report the first from India. (Source: Brain and Development)
Source: Brain and Development - May 27, 2022 Category: Neurology Authors: Praisy Joy, Vrisha Madhuri, Thomas Palocaren, Sweta Das, Suneetha Susan Cleave Abraham, Sophy Korula, Beena Koshy, John Jose, Mahalakshmi Chandran, Sumita Danda Tags: Case Report Source Type: research
Impact of maternal dyslipidemia on infant neurodevelopment: The Japan Environment and Children ’s Study
This study assessed the impact of maternal serum total cholesterol (TC) level in early pregnancy on early childhood neurodevelopment. (Source: Brain and Development)
Source: Brain and Development - May 25, 2022 Category: Neurology Authors: Noriko Motoki, Yuji Inaba, Takumi Shibazaki, Yuka Misawa, Satoshi Ohira, Makoto Kanai, Hiroshi Kurita, Teruomi Tsukahara, Tetsuo Nomiyama, the Japan Environment, Children's Study (JECS) Group Tags: Original article Source Type: research
Hemidystonia with polymicrogyria is part of ATP1A3-related disorders
We report here a male patient with early developmental delay who at 12 months presented dystonia of the right arm which evolved into hemidystonia at the age of 2. (Source: Brain and Development)
Source: Brain and Development - May 24, 2022 Category: Neurology Authors: Didier Lacombe, Julien Van-Gils, Marine Lebrun, Aur élien Trimouille, Vincent Michaud, Sara Cabet, Jean-François Chateil, Jean-Michel Pedespan, Claire Bar, Gaetan Lesca Tags: Case Report Source Type: research
