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Brain & Development

Kiyotaka Isobe, Hiroshi Matsumoto, Yoshiteru Tamura, Junya Hashimoto, Keiko Matsubara, Shigeaki Nonoyama
OBJECTIVE: To report detail of a patient with infantile spasms whose cytogenetic analysis revealed mosaic monocentric and duplicated supernumerary marker chromosome (SMC) 15. SUBJECT AND METHODS: The subject for this case was a 13-month-old girl with infantile spasms and delayed developmental milestones. Chromosomal analysis with G-band showed the presence of SMC in mosaic. Further investigations using in situ hybridization, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), microsatellite marker, and single nucleotide polymorphism (SNP) array analysis were performed...
June 27, 2018: Brain & Development
Pınar Tekturk, Betul Baykan, Ece Erdag, Sian Peach, Mine Sezgin, Zuhal Yapici, Cem İsmail Küçükali, Angela Vincent, Erdem Tuzun
AIM: Cryptogenic forms of epileptic encephalopathies (EE) with their well-known features of drug-resistance, mental deterioration and partial response to immunotherapies are ideal candidates for screening for neuronal autoantibodies (NAA). METHOD: Fifty consecutive pediatric patients with a diagnosis of EE of unknown cause were included. Nine NAAs were tested by ELISA, RIA or cell-based assays. Clinical features of seronegative and seropositive patients were compared...
June 20, 2018: Brain & Development
Akihisa Okumura, Koichi Maruyama, Mami Shibata, Hirokazu Kurahashi, Atsushi Ishii, Shingo Numoto, Shinichi Hirose, Tomoko Kawai, Manami Iso, Shinsuke Kataoka, Yusuke Okuno, Hideki Muramatsu, Seiji Kojima
We report on a 4-year-old girl with a de novo GNAO1 mutation who had neurological findings, including decreased spontaneous movements, hypotonia, and dystonic features. She was referred to our hospital because of delayed psychomotor development. She showed hypotonia and decreased spontaneous movements. Voluntary movements of the limbs were more frequent in the lower extremities than in the upper extremities. Occasional dyskinetic features, such as awkward hand/foot posturing and grimacing, were seen during the voluntary movements...
June 20, 2018: Brain & Development
Lulu Kang, Yu Wang, Xiaolan Gao, Wenjuan Qiu, Jun Ye, Lianshu Han, Xuefan Gu, Huiwen Zhang
BACKGROUND: Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 unrelated type 2 GD patients. METHOD: The diagnosis of GD was based on the acid β-glucocerebrosidase (GBA) enzyme activity and direct sequencing of the GBA gene. GBA activity was measured in leukocytes and the GBA gene was amplified by a polymerase chain reaction (PCR)...
June 19, 2018: Brain & Development
Kentaro Okamoto, Mitsumasa Fukuda, Isao Saito, Isaku Horiuchi, Tomoko Okazawa, Eiichi Ishii
INTRODUCTION: Epilepsy is a common childhood neurological condition and a major public health concern worldwide. A higher incidence of epilepsy is reported in low- and middle-income countries, particularly in rural areas. However, no Japanese reports on the incidence of childhood epilepsy have been published in the past 25 years. We estimated the annual incidence of epilepsy in children aged 1-14 years in Uwajima, a city in a rural, relatively isolated area of Japan. METHODS: Candidates were extracted from Japan's public insurance database following the International Classification of Diseases code for epilepsy...
June 19, 2018: Brain & Development
Çiğdem Genç Sel, Mustafa Kılıç, Deniz Yüksel, Ayşe Aksoy, Çiğdem Seher Kasapkara, Serdar Ceylaner, Kader Karlı Oğuz
BACKGROUND: Nonketotic hyperglycinemia (NKH) is an autosomal recessive severe life-threatening catostrophic metabolic disorder. MATERIALS AND METHODS: The present study was conducted in a tertiary reference center in Turkey for six years period. The accurate diagnosis of six NKH patients was based on clinical history of the patients, neurological examinations, seizure semiology, serial electroencephalography (EEG) recordings, neuroimaging findings, metabolic tests and genetic analysis...
June 18, 2018: Brain & Development
Jun-Ichi Takanashi, Kumi Yasukawa, Yuka Murofushi, Atsuko Masunaga, Hiroshi Sakuma, Masaharu Hayashi
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common pediatric encephalopathy in Japan, however, the exact neuropathology remains uncertain. The postmortem neuropathology in a patient with AESD revealed reduction of myelinated axons with early stage of astrocytosis in the absence of neuronal loss, which suggests the primary pathological damage in AESD involves myelinated axons and astrocytes rather than cortical neurons. An increased number of gemistocytic astrocytes at the corticomedullary junction may cause reduced diffusion, leading to the so-called bright tree appearance on magnetic resonance imaging, characteristic to AESD...
June 18, 2018: Brain & Development
Meryem Ozlem Kutuk, Ali Evren Tufan, Gulen Guler, Osman Ozgur Yalin, Ebru Altintas, Harika Gozukara Bag, Derya Uluduz, Fevziye Toros, Nurgul Aytan, Ozgur Kutuk, Aynur Ozge
OBJECTIVE: Attention deficit and hyperactivity disorder (ADHD) is a neuro-developmental disorder related to internalizing and externalizing disorders as well as somatic complaints and disorders. This study was conducted to evaluate the prevalence of headache subtypes, epilepsy, atopic disorders, motion sickness and recurrent abdominal pain among children and adolescents with ADHD and their parents. METHODS: In a multi-center, cross-sectional, familial association study using case-control design, treatment naïve children and adolescents between 6 and 18 years of age diagnosed with ADHD according to the DSM-5 criteria as well as age- and gender-matched healthy controls and their parents were evaluated by a neurologist and analyzed accordingly...
June 16, 2018: Brain & Development
Naoko Kurahashi, Yukiko Futamura, Norie Nonobe, Shunsuke Ogaya, Yuki Maki, Ikuko Yoshimura, Takeshi Suzuki, Yosuke Hosokawa, Keitaro Yamada, Kosaburo Aso, Koichi Maruyama, Miho Nakamura
BACKGROUND: There are few studies on hiragana reading skill and phonological awareness in Japanese schoolchildren with periventricular leukomalacia (PVL). METHODS: Three seven-year-old children with PVL who had no intellectual disabilities or dysarthria were recruited. Their perinatal information, brain magnetic resonance image (MRI) at term equivalent age, accompanying neurodevelopmental disorders, ophthalmologic features, Kaufman Assessment Battery for Children (K-ABC), a hiragana reading test (four tasks), and a phonological awareness task (mora reversal tasks) were analyzed...
June 13, 2018: Brain & Development
Yuichi Akaba, Satoru Takahashi, Yoshiaki Sasaki, Hiroki Kajino
BACKGROUND: Periodic paralysis (PP) is an autosomal dominant muscle disorder characterized by periodic muscle weakness attacks associated with serum potassium level variations. It is classified into hypokalemic (hypoKPP), hyperkalemic (hyperKPP), and normokalemic (normoKPP) forms based on the ictal serum potassium level. HyperKPP and normoKPP are caused by mutations of the same gene SCN4A, the gene encoding the skeletal muscle voltage-gated sodium channel. Prophylactic treatment with thiazide diuretics is highly effective in preventing attacks in hyperKPP...
June 12, 2018: Brain & Development
Tatsuharu Sato, Mitsuhiro Kato, Kaoru Moriyama, Kohei Haraguchi, Hirotomo Saitsu, Naomichi Matsumoto, Hiroyuki Moriuchi
BACKGROUND: Tubulinopathies include a wide spectrum of disorders ranging from abnormal ocular movement to severe brain malformations, and typically present as diffuse agyria or perisylvian pachygyria with microcephaly, agenesis of the corpus callosum, and cerebellar hypoplasia. They are caused by the dysfunction of tubulins encoded by tubulin-related genes, and the TUBA1A gene encoding alpha-1A tubulin is most frequently responsible for this clinical entity. Porencephaly is relatively rare among patients with the TUBA1A mutations...
June 12, 2018: Brain & Development
Kentaro Nakashima, Yuhki Koga, Yasunari Sakai, Hidetoshi Takada, Katsumi Harimaya, Saiji Ohga, Tomoaki Taguchi, Yoshinao Oda, Hiroshi Honda, Shouichi Ohga
BACKGROUND: Langerhans cell histiocytosis (LCH) is a clonal disease with focal or disseminated lesions that may compress the surrounding tissues, including the spinal cord. Because few reports have described the spinal symptoms as the first manifestation of pediatric LCH, the long-term neurological outcomes remain unclear. CASE REPORT AND LITERATURE REVIEW: We report a 21-month-old boy who presented with sudden-onset paraplegia. Imaging analyses revealed that osteolytic lesions and epidural tumors compressing the spinal cord at the T7-9 vertebrae...
June 12, 2018: Brain & Development
Jehan Suleiman, Nadia Hamwi, Ayman W El-Hattab
Parkinson disease is a common neurodegenerative disease that typically starts around the age of 60 years; however, juvenile-onset disease can occur rarely. Although Parkinson disease is typically sporadic; in rare occasions, it can be caused by a single gene defect that is inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Herein, we describe a 10-year-old child who had juvenile-onset parkinsonism with rigidity, bradykinesia, dystonia, gait disturbance, and cognitive impairment. Whole exome sequencing showed compound heterozygosity for two previously unreported novel mutations in ATP13A2 (PARK9): a paternally inherited c...
June 11, 2018: Brain & Development
Afnan Alhakeem, Faisal Alshibani, Brahim Tabarki
INTRODUCTION: SLC13A5-related epileptic encephalopathy is a recently described autosomal recessive disorder that is characterized by infantile epilepsy and developmental delay. Seizures are markedly drug resistant and often induced by fever; they mainly occur in clusters, sometimes evolving into status epilepticus. METHODS AND RESULTS: We report the use of stiripentol as an adjunctive therapy in three siblings with drug-resistant SLC13A5-related epilepsy. The three patients showed remarkable improvement in the severity and frequency of seizures, status epilepticus, emergency department visits, and alertness...
June 9, 2018: Brain & Development
Yuri Matsubara, Hitoshi Osaka, Takanori Yamagata, Ryusuke Ae, Jun Shimizu, Noriko Oguro
BACKGROUND: Acute encephalopathy causes various sequelae, including motor disabilities and intellectual delays. Previous studies reported that cognitive impairments can also occur after acute encephalitis. Although the incidence of acute encephalopathy is high in Japan, there have been few reports on its sequelae. OBJECTIVE: To characterize the neurological outcomes of pediatric patients who sought motor rehabilitation for motor dysfunction after acute encephalopathy...
June 8, 2018: Brain & Development
Li-Wen Chen, Chao-Ku Teng, Yi-Shan Tsai, Jieh-Neng Wang, Yi-Fang Tu, Ching-Fen Shen, Ching-Chuan Liu
INTRODUCTION: Seasonal influenza-associated neurological complications had high mortality and morbidity rates in recent studies. We reported influenza-associated encephalitis/encephalopathy in children during 2014-2017 in Taiwan, focusing on neurological presentations, neuroimaging correlations, and critical care managements. MATERIALS/SUBJECTS: During January 1st 2014 to June 30th 2017, pediatric patients reported to the Taiwan Centers for Disease Control surveillance system for severe complicated influenza infections in the hospital were retrospectively reviewed...
June 8, 2018: Brain & Development
Megumi Nukui, Hisashi Kawawaki, Takeshi Inoue, Ichiro Kuki, Shin Okazaki, Kiyoko Amo, Masao Togawa, Junichi Ishikawa, Hiroshi Rinka, Masashi Shiomi
OBJECTIVES: Acute encephalopathy has been observed with acute brain swelling (ABS) that is characterized by rapid progression to whole-brain swelling. The objective of this study was to describe the clinical characteristics of ABS. METHODS: We encountered four patients with ABS and retrospectively investigated their clinical data with a medical chart review. RESULTS: Three patients had seizure clustering or status epilepticus in the clinical course...
June 7, 2018: Brain & Development
Tomoe Yanagishita, Susumu Ito, Yui Ohtani, Kaoru Eto, Takashi Kanbayashi, Hirokazu Oguni, Satoru Nagata
Narcolepsy is characterized by excessive sleepiness, hypnagogic hallucinations, and sleep paralysis, and can occur with or without cataplexy. Here, we report two children with narcolepsy presenting with cataplexy mimicking epileptic seizures as determined by long-term video-electroencephalography (EEG) and electromyography (EMG) monitoring. Case 1 was a 15-year-old girl presenting with recurrent episodes of "convulsions" and loss of consciousness, who was referred to our hospital with a diagnosis of epilepsy showing "convulsions" and "complex partial seizures"...
June 6, 2018: Brain & Development
Hiroyuki Miyahara, Tomoyuki Akiyama, Kenji Waki, Yoshio Arakaki
BACKGROUND: Nonepileptic twilight state with convulsive manifestations (NETC) is a nonepileptic state following a febrile seizure (FS), which may be misdiagnosed as a prolonged seizure and result in overtreatment. We aimed to describe clinical manifestations of NETC and to determine characteristics that are helpful to distinguish NETC from other pathological conditions. METHODS: We conducted a retrospective chart review from January 2010 to December 2016 and selected the patients who presented with symptoms resembling status epilepticus with fever and a confirmed diagnosis using an electroencephalogram (EEG)...
June 1, 2018: Brain & Development
Pauline Marzin, Cyril Mignot, Nathalie Dorison, Louis Dufour, Dorothée Ville, Anna Kaminska, Eleni Panagiotakaki, Anne-Sophie Dienpendaele, Marie-José Penniello, Marie-Christine Nougues, Boris Keren, Christel Depienne, Caroline Nava, Mathieu Milh, Laurent Villard, Christian Richelme, Clotilde Rivier, Sandra Whalen, Delphine Heron, Gaëtan Lesca, Diane Doummar
OBJECTIVE: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood...
May 31, 2018: Brain & Development
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