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Brain & Development

Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
Didem Yücel-Yılmaz, Emrah Yücesan, Dilek Yalnızoğlu, Kader Karlı Oğuz, Mahmut Şamil Sağıroğlu, Uğur Özbek, Esra Serdaroğlu, Başar Bilgiç, Sevim Erdem, Sibel Aylin Uğur İşeri, Haşmet Hanağası, Hakan Gürvit, Rıza Köksal Özgül, Ali Dursun
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up. Whole exome sequencing in these patients followed by segregation analysis identified novel truncating KIF1C mutations (c...
March 12, 2018: Brain & Development
Yuko Nakamura, Yoshiaki Saito, Norika Kubota, Wataru Matsumura, Chika Hosoda, Akiko Tamasaki-Kondo, Yoko Nishimura, Yoshihide Sunada, Masuyuki Fukada, Takako Ohno, Yoshihiro Maegaki, Masafumi Matsuo, Yasuko Tokita
AIM: To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized. SUBJECTS AND METHODS: This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow (PCF), average PCO2 in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed...
March 8, 2018: Brain & Development
Tomoko Saikusa, Munetsugu Hara, Kazuhiro Iwama, Kotaro Yuge, Chihiro Ohba, Jun-Ichiro Okada, Tadashi Hisano, Yushiro Yamashita, Nobuhiko Okamoto, Hirotomo Saitsu, Naomichi Matsumoto, Toyojiro Matsuishi
We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation in histone deacetylase 8 (HDAC8) (c.652G > T, p.Gly218Cys) was confirmed by whole exome sequencing and Sanger sequencing. X-chromosome inactivation analysis on DNA isolated from peripheral blood lymphocytes revealed a completely skewed pattern associated with an inactive maternal allele...
March 5, 2018: Brain & Development
Mayumi Matsuda, Kazuhide Tomita, Arito Yozu, Tomohiro Nakayama, Jyunko Nakayama, Haruka Ohguro, Nobuaki Iwasaki
PURPOSE: This study investigated the sequential physical changes after botulinum toxin type A (BTX-A) injected in children with cerebral palsy. METHODS: Nine children with cerebral palsy were included. Measurements were performed before treatment and 4 weeks, 8 weeks, and 12 weeks after treatment. We used video-recorded gait in the sagittal plane. The maximum flexion and extension angles of the hip, knee and ankle joints, step length, gait speed, and observational gait were measured using the Foot Contact Scale (FCS) and the Physician's Rating Scale (PRS)...
March 3, 2018: Brain & Development
Akihiko Miyauchi, Hitoshi Osaka, Masako Nagashima, Mari Kuwajima, Yukifumi Monden, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Kei Murayama, Akira Ohtake, Takanori Yamagata
Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed...
March 2, 2018: Brain & Development
Ling-Ling Xie, Xiao-Jie Song, Tian-Yi Li, Li Jiang
We report a case of 14-month-old male monozygotic twins showing early-onset intractable epilepsy, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. They presented with refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 months. Electroencephalograms mainly revealed fast activity in left occipital region and generalized high amplitude polyspikes and wave. Brain MRI was normal. A de novo germline hemizygous mutation, C.110 T > C (p...
March 1, 2018: Brain & Development
Vykuntaraju K Gowda, Tamilarasan Udhayabanu, Perumal Varalakshmi, Varunvenkat M Srinivasan, Balasubramaniem Ashokkumar
BACKGROUND: Fazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves. OBJECTIVE: To describe Fazio-Londe syndrome in sibling with different phenotype. METHODS: A 6 years old female child presented with inability to close eyes, difficulty in swallowing, respiratory muscle weakness and voice change since 5 yr of age...
February 28, 2018: Brain & Development
Daniel Bamborschke, Matthias Pergande, Kerstin Becker, Friederike Körber, Jörg Dötsch, Anne Vierzig, Lutz T Weber, Sebahattin Cirak
INTRODUCTION: Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1. CASE REPORT: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications. MRI imaging showed generalized cortical atrophy with simplified gyral pattern and hypoplastic temporal lobes as well as cerebellar hypoplasia and hyperintensity in the pons...
February 28, 2018: Brain & Development
Makoto Nishioka, Yuji Inaba, Mitsuo Motobayashi, Yosuke Hara, Ryusuke Numata, Yoshiro Amano, Kunihiko Shingu, Yoichiro Yamamoto, Kei Murayama, Akira Ohtake, Yozo Nakazawa
INTRODUCTION: Mitochondrial dysfunction results in a wide range of organ disorders through diverse genetic abnormalities. We herein present the detailed clinical course of an infant admitted for extensive, rapidly progressing white matter lesions and hypertrophic cardiomyopathy due to a BOLA3 gene mutation. CASE: A 6-month-old girl with no remarkable family or past medical history until 1 month prior presented with developmental regression and feeding impairment...
February 28, 2018: Brain & Development
Hitoshi Osaka, Takeshi Kouga
No abstract text is available yet for this article.
February 27, 2018: Brain & Development
Shu Zhang, Qian-Qian Mei, Jing Xin, Hong-Ying Zhang, Shi-Wen Wu, Chun-Feng Liu
OBJECTIVE: Progressive weakness of respiratory muscles remains one of the leading causes of death among patients with Duchenne muscular dystrophy (DMD). Currently, there are few pulmonary function data among Chinese DMD patients. This study was carried out to evaluate the sniff nasal inspiratory pressure (SNIP) change among a group of Chinese DMD patients, and compare it with the SNIP value of patients with neuromuscular disorders in other countries. METHODS: SNIP data were collected in three research groups that consists of 581 subjects: 125 DMD boys who have taken steroid (Age 5...
February 21, 2018: Brain & Development
Sayaka Aoki, Keiji Hashimoto, Hidetoshi Mezawa, Yuhei Hatakenaka, Kahoko Yasumitsu-Lovell, Narufumi Suganuma, Yukihiro Ohya, Philip Wilson, Elisabeth Fernell, Yoko Kamio, Christopher Gillberg
OBJECTIVE: As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reliability on scoring for the individual items in this scale was assessed. METHODS: The participants of the study were 29 children (aged 1-5 years, mean age = 2...
February 21, 2018: Brain & Development
Kenneth A Myers, Ingrid E Scheffer, John S Archer
BACKGROUND: Hemiconvulsion-hemiplegia-epilepsy (HHE) involves infantile-onset acute hemiconvulsive febrile status epilepticus with subsequent unilateral cerebral atrophy and hemiparesis. Chronic epilepsy later develops, typically involving refractory focal seizures; however, the underlying pathophysiology of this epilepsy is not well understood. PATIENT: We present a boy who had a typical acute presentation of HHE at 23 months, but an unusual evolution to chronic epilepsy in which the initially unaffected hemisphere was significantly abnormal...
February 16, 2018: Brain & Development
Choong Yi Fong, Hnin Wint Wint Aung, Arie Khairani, Chin Seng Gan, Nortina Shahrizaila, Khean Jin Goh
Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a rapidly ascending paralysis of all four limbs and disturbance of consciousness. The initial impression was BBE with overlapping GBS. This was supported by sequential nerve conduction study (NCS) findings compatible with an acute inflammatory demyelinating polyneuropathy (AIDP)...
February 16, 2018: Brain & Development
Yingyan Gan, Huici Liang, Xiaojing Li, Yiru Zeng, Wenlin Wu, Jing Han, Jianning Mai
The 'hot cross' bun (HCB) sign refers to pontine cruciform hyperintensity on T2 weighted magnetic resonance image (MRI) which is frequently seen in multiple system atrophy and spinocerebellar ataxia types 2 and 3. We describe a 3 years old boy of encephalitis and his MRI image showed HCB sign in the pontine. After immunosuppressive treatment and followed up 14 months, he got a good outcome and the HCB sign narrowed nearly disappeared.
February 14, 2018: Brain & Development
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Hironori Ohshita, Yutaka Negishi, Tsutomu Shinohara, Ayako Hattori, Takenori Kato, Sachiko Inukai, Katsumasa Kitamura, Tomoki Kawai, Osamu Ohara, Shinji Kunishima, Shinji Saitoh
INTRODUCTION: Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently been shown to additionally have Ehlers-Danlos-like collagenopathy or macrothrombocytopenia. In an attempt to establish a clearer correlation between clinical symptoms and genotype, we have investigated a phenotype that involves thrombocytopenia in a patient with a truncation of the FLNA gene...
February 12, 2018: Brain & Development
Jin Sook Lee, Jong-Moon Choi, Moses Lee, Soo Yeon Kim, Sangmoon Lee, Byung Chan Lim, Jung-Eun Cheon, In-One Kim, Ki Joong Kim, Murim Choi, Moon-Woo Seong, Jong-Hee Chae
BACKGROUND: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim to expand the clinical and genetic spectrum of late infantile GM1 gangliosidosis. METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of β-galactosidase activity...
February 10, 2018: Brain & Development
Manaka Matsunaga, Yuichi Kodama, Shinsuke Maruyama, Akinori Miyazono, Shunji Seki, Takayuki Tanabe, Michiyoshi Yoshimura, Junichiro Nishi, Yoshifumi Kawano
We report the case of a 12-year-old girl who developed Guillain-Barré syndrome (GBS) and optic neuritis (ON) following Mycoplasma pneumoniae infection. Her symptoms, including bilateral vision impairment and tingling in her hands and right foot, were resolved after methylprednisolone pulse therapy. Serum anti-galactocerebroside (Gal-C) IgM antibodies were detected in our patient. This is the first report of a child with GBS and ON associated with M. pneumoniae infection.
February 9, 2018: Brain & Development
Michelle E Schober, Daniela F Requena, Christopher K Rodesch
In adult rats, erythropoietin improved outcomes early and late after traumatic brain injury, associated with increased levels of Brain Derived Neurotrophic Factor. Using our model of pediatric traumatic brain injury, controlled cortical impact in 17-day old rats, we previously showed that erythropoietin increased hippocampal neuronal fraction in the first two days after injury. Erythropoietin also decreased activation of caspase3, an apoptotic enzyme modulated by Brain Derived Neurotrophic Factor, and improved Novel Object Recognition testing 14 days after injury...
February 8, 2018: Brain & Development
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