Brain & Development | Page 2

Hsiu-Fen Lee, Ching-Shiang Chi, Chi-Ren Tsai
BACKGROUND: The aim of this study was to describe the electroclinical variability of four Taiwanese patients with pyridoxine-dependent epilepsy (PDE) caused by ALDH7A1 gene mutations. METHODS: Demographic data, case histories, clinical seizure patterns, EEG features, neuroimaging findings, ALDH7A1 gene mutations, treatments, and neurodevelopmental outcomes of the four patients were collected and analyzed. RESULTS: The four patients exhibited the first symptom between the ages of 6 days and 11 months...
March 12, 2020: Brain & Development
Osamu Kawano, Kiyoshi Egawa, Hideaki Shiraishi
BACKGROUND: Angelman syndrome (AS) is a neurodegenerative disorder caused by functional loss of the maternal ubiquitin-protein ligase 3A gene. Nonepileptic myoclonus, also described as tremulous movement, often occurs during puberty and increases in adulthood. The involuntary movement in AS has not been defined patho-physiologically and the drugs used such as levetiracetam and piracetam are not always effective. Recently, the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptor antagonist, perampanel (PER), was used to alleviate myoclonus in progressive myoclonus epilepsy...
March 10, 2020: Brain & Development
Takatoshi Sato, Michiru Adachi, Aya Matsuo, Masaya Zushi, Keisuke Goto, Megumi Hirose, Kumiko Ishiguro, Minobu Shichiji, Terumi Murakami, Tetsuo Ikai, Makiko Osawa, Izumi Kondo, Satoru Nagata, Keiko Ishigaki
OBJECTIVES: The objective of this study was to confirm the validity of a short form of gross motor function measure for Fukuyama congenital muscular dystrophy (GMFM for FCMD). METHODS: This study is a case series and was conducted at the Tokyo Women's Medical University. Fifteen patients with FCMD were assessed using both the GMFM for FCMD with 68 items, which was created as a motor function measure for patients with FCMD on the basis of Rasch analysis, and the original GMFM with 88 items...
March 4, 2020: Brain & Development
Takahiro Tayama, Tatsuo Mori, Aya Goji, Yoshihiro Toda, Shoji Kagami
BACKGROUND: Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory seizure, mental retardation, and behavioral problems. Although there are reports of the effective treatment of patients with antiepileptic drugs (AEDs), no study has reported the effects of lacosamide(LCM) in children with this syndrome. We report a 7-year-old boy with this syndrome whose refractory and behavioral abnormalities have been remarkably improved by treatment with LCM. CASE PRESENTATION: The patient was a 7-year-old boy with no medical or family history of epilepsy...
June 2020: Brain & Development
Roberta Battini, Giorgia Olivieri, Roberta Milone, Federica Mazio, Roberta Scalise, Tommaso Verdolotti, Guido Primiano, Orazio Genovese, Eugenio Mercuri, Serenella Servidei
BACKGROUND: Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding and respiratory problems, and cutaneous abnormalities. CASE DESCRIPTION: We describe a 52-month-old female whose clinical and neuroradiological pictures were consistent with myelopathy, which is generally more frequent in older patients, as well as with symptoms of an infantile onset of biotinidase deficiency, revealed at 17 months...
June 2020: Brain & Development
Müge Ayanoğlu, Elif Korgali, Taner Sezer, Halil Ibrahim Aydin, Fatma Müjgan Sönmez
We describe the first child with guanidinoacetate methyltransferase (GAMT) deficiency who developed neuroleptic malignant syndrome (NMS) after the treatment of risperidone without elevated creatine kinase (CK) levels. The patient presented with lethargy, hyperthermia, generalized tremor and rigidity with normal serum CK levels. After cessation of risperidone and adding clonezepam to the supportive treatment, symptoms of NMS were ameliorated. We conclude that although serum CK elevation is a useful indicator for the early detection of NMS, normal serum CK levels may be seen during the NMS course in the presence of GAMT deficiency...
May 2020: Brain & Development
Tomoyuki Akiyama, Soichiro Toda, Nobusuke Kimura, Yukiko Mogami, Yoshiyuki Hanaoka, Chiho Tokorodani, Tomoshiro Ito, Hiroyuki Miyahara, Yuki Hyodo, Katsuhiro Kobayashi
BACKGROUND: The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is essential for the biosynthesis of gamma-aminobutyric acid, an inhibitory neurotransmitter. The aim of this study is to investigate our hypothesis that VB6 deficiency in the brain may play a role in AESD...
May 2020: Brain & Development
Ji-Hoon Na, Saeam Shin, Donghwa Yang, Borahm Kim, Heung Dong Kim, Sehee Kim, Joon-Soo Lee, Jong-Rak Choi, Seung-Tae Lee, Hoon-Chul Kang
BACKGROUND: Early-onset developmental and epileptic encephalopathy (DEE) is characterized by repeated seizures beginning within 3 months of birth and severe interictal epileptiform discharge, including burst suppression. This study assessed the utility of targeted gene panel sequencing in the genetic diagnosis of this disease. MATERIALS AND METHODS: Targeted gene panel sequencing was performed in 150 early infantile-onset DEE patients (≤3 months of age), and we extensively reviewed their clinical characteristics, including therapeutic efficacy, according to genotype...
March 2, 2020: Brain & Development
Giulia Prato, Elisa De Grandis, Maria Margherita Mancardi, Ramona Cordani, Thea Giacomini, Livia Pisciotta, Sara Uccella, Mariasavina Severino, Domenico Tortora, Marco Pavanello, Marta Bertamino, Enrico Verrina, Gianluca Caridi, Maja Di Rocco, Lino Nobili
Schimke Immuno-Osseous Dysplasia (SIOD) is an autosomal recessive multisystem disorder caused by pathogenic variants in the gene SMARCAL1. The clinical picture is characterized by spondyloepiphyseal dysplasia resulting in growth failure, nephropathy and T-cell deficiency. Neurologic manifestations include microcephaly, cognitive impairment, migraine-like headaches and cerebrovascular manifestations such as cerebral atherosclerotic vascular disease and reversible cerebral vasoconstriction. The role of SMARCAL1 deficiency in non-vascular neurological complications is still under debate...
February 27, 2020: Brain & Development
Hyunji Ahn, Go Hun Seo, Changwon Keum, Sun Hee Heo, Taeho Kim, Jeongmin Choi, Mi-Sun Yum, Beom Hee Lee
Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characterized by unusual, rapidly progressive developmental regression due to additional pathogenic mutation in ARSA. Considering the 1 in 100 chance of an MLD carrier, co-occurrence of PMS and MLD in a patient is possible if either parent carries a heterozygous ARSA mutation...
February 26, 2020: Brain & Development
Tatsuo Mori, Hiromichi Ito, Masafumi Harada, Sonoka Hisaoka, Yuki Matsumoto, Aya Goji, Yoshihiro Toda, Kenji Mori, Shoji Kagami
INTRODUCTION: Arterial spin labeling (ASL) is a non-invasive magnetic resonance imaging (MRI) technique that can measure regional cerebral blood flow (rCBF) without radiation exposure. This study aimed to evaluate rCBF in individuals with autism and their age-matched controls, globally and regionally. METHODS: We performed ASL MRI (3 T, pulsed-continuous ASL, 3 delayed ASL imaging sequences) for 33 patients with autism spectrum disorder (ASD) (average age: 7.3 years, range: 2-14 years)...
February 19, 2020: Brain & Development
Yukihiro Kitai, Satori Hirai, Naomi Okuyama, Mika Hirotsune, Shizuka Nishimoto, Satoshi Mizutani, Akihisa Okumura, Satoko Kumada, Hiroshi Arai
OBJECTIVES: Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS: A mail questionnaire was administered to the caregivers of 67 children with preterm bilirubin encephalopathy aged >4 years. We asked about the type of treatments they received and their efficacy using a five-point subjective scale for the following five domains: motor function, postural stability, sleep, pain, and care burden...
February 13, 2020: Brain & Development
Prateek Kumar Panda, Indar Kumar Sharawat
BACKGROUND: Still, the genetic basis of a large number of cases of early-onset isolated dystonia continues to be a mystery. In recent years, many new candidate genes are being identified as putative pathogenic factors in children with isolated dystonia due to the easy availability of whole-exome sequencing. Recently biallelic mutations in the COL6A3 gene were identified as a cause of rare dystonia (DYT)-27 syndrome. Till date, only six cases of DYT27 have been reported in the literature...
February 6, 2020: Brain & Development
Chia-Wen Chen, Chang-Wei Hsueh, Chi-Hsiang Chung, Huei-Shyong Wang, Hsiu-Ju Chang, Wu-Chien Chien
BACKGROUND: Tourette syndrome (TS) is often comorbid with attention deficit hyperactivity disorder, obsessive-compulsive disorder, and depression. Medications are the main treatment for TS. Relationships between TS medication therapy and psychiatric comorbidities remain unclear. This study explored the impacts of TS medication on the risk of psychiatric comorbidities using a nationally representative sample of TS in Taiwan. METHODS: Data from National Health Insurance Research Database in Taiwan was used to identify 997,213 children and adolescents aged 6-18 years who had received a diagnosis of TS based on ICD-9-CM codes in 2000-2010...
February 3, 2020: Brain & Development
Shunichi Adachi, Masataka Inoue, Isao Kawakami, Hiroshi Koga
OBJECTIVE: The effect of complex febrile seizures (FS), specifically focal FS, on long-term neurodevelopmental outcome is not well known. The aim of this study was to assess the association between complex FS and neurodevelopmental outcome. METHODS: A single-center, retrospective, cohort study was performed. The study included 282 children aged 6-60 months who experienced FS. Of these, 61 (22%) experienced recurrent FS, 33 (12%) prolonged FS, and 17 (6%) focal FS...
February 1, 2020: Brain & Development
Kiyoko Yamane, Yoko Fujii, Nozomi Hijikata
AIMS: We provided 3 special diets to 40 preschool children with autism at lunchtime and detected improvements in diet-related issues in almost all of the children. The children fell into the following 3 groups: those who selected their diet based on: group1 = sensory factors; group2 = visual appearance of foods; and group3 = familiar foods. To identify effective support, we performed developmental and sensory assessments of each group retrospectively. METHOD: There were 7 children in group1, 9 in group2, and 24 in group3...
February 2020: Brain & Development
Shiho Yamamoto, Tsunehisa Nagamori, Shigetsuna Komatsu, Masaru Shirai, Tatsuo Suzutani, Junichi Oki
We present the case of an 8-month-old boy with the repeated recurrence of vesicles from the time of birth and who subsequently manifested psychomotor developmental delay. We retrospectively diagnosed the patient with congenital herpes simplex virus (HSV) infection. Computed tomography showed multiple calcifications in the periventricular white matter and thalami. The bilateral deep white matter showed an abnormally high signal intensity on T2-weighted magnetic resonance imaging. The patient required consecutive, suppressive therapy with valacyclovir to prevent the repeated recurrence of vesicles...
January 27, 2020: Brain & Development
Reiko Shimizu, Maki Ohata, Hisateru Tachimori, En Kimura, Yuko Harada, Eri Takeshita, Akemi Tamaura, Shin'ichi Takeda, Hirofumi Komaki
Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and their parents within this clinical trial via an iPad survey form and through interviews regarding their understanding of the trial, expectations, anxieties, and reasons for participating in the trial...
January 25, 2020: Brain & Development
Miguel García-Boyano, José Manuel Caballero-Caballero, Marina Alguacil-Guillén, Fernando Baquero-Artigao
We report a case of a 22-month-old Spanish girl who presented acute encephalopathy with biphasic seizures and late reduced diffusion (AESD). Serum procalcitonin (PCT) reached a maximum of 50.5 ng/mL on the first day whereas C-reactive protein (CRP) peaked at 1.21 mg/dL on the second. At the time of discharge, right spastic hemiparesis persisted. MR spectroscopy on day 23 revealed a decrease in N-acetylaspartate and an increase in choline. To our knowledge, we report the first case of AESD in Europe. These findings support the role of PCT and PCT/CRP ratio in the early diagnosis of AESD and correlation of MR spectroscopy findings with neurological outcome...
January 25, 2020: Brain & Development
Tomoko Sakai, Shiho Honzawa, Makiko Kaga, Yuji Iwasaki, Tatsuo Masuyama
OBJECTIVES: We assessed the severity and pathology of osteoporosis in children and adults with severe motor and intellectual disabilities (SMID) by evaluating bone enzymes, by which we aimed to determine adequate treatment approaches for preventing fractures. METHODS: Ninety patients (44 men, 46 women; mean age, 34.5 years) underwent bone quality assessment. Quantitative ultrasonography (QUS) was used to measure the T-score and Z-score of the calcaneus, and blood tests were used to measure bone-specific alkaline phosphatase and tartrate-resistant acid phosphatase 5b levels as bone formation and resorption markers, as well as calcium, phosphorous, and parathyroid hormone levels as routine examination...
January 22, 2020: Brain & Development
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