Brain stem infarction in a 6-year-old boy with Down syndrome.

Abstract:

:Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS until now. Here, we report a case of brain stem infarction in a 6-year-old boy with DS who had no cardiac, renal, or intestinal complications. He exhibited ataxic gait and medial longitudinal fasciculus (MLF) symptoms at first presentation. Neuroimaging revealed a localized and isolated lesion in the midbrain. Although he did not satisfy the diagnostic criteria of APS, he showed persistently elevated levels of anticardiolipin antibody (21 U/mL; normal value <10 U/mL). Although he had the risks of a multiple vascular systems disorder, DS, and persistently elevated levels of antiphospholipid antibodies, his lesion was not similar to any of the previously reported cerebral infarctions in DS or in APS. To our knowledge, this is the first report of limited solitary brain stem infarction in a child with DS.

journal_name

Brain Dev

journal_title

Brain & development

authors

Imagi T,Matsushita T,Matsushita M,Yae Y,Yokochi T,Kawano G,Akita Y,Ohbu K,Matsuishi T

doi

10.1016/j.braindev.2019.02.013

subject

Has Abstract

pub_date

2019-06-01 00:00:00

pages

555-558

issue

6

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(18)30640-5

journal_volume

41

pub_type

杂志文章
  • ACTH therapy for Taiwanese children with West syndrome -- efficacy and impact on long-term prognosis.

    abstract::To study the efficacy of adrenocorticotrophic hormone (ACTH) in treating Taiwanese children with West syndrome (WS) and the impact on long-term prognosis, 66 patients with WS (54 symptomatic and 12 cryptogenic) were collected from 1987 to 1998 in a medical center in Taiwan. A total of 53 patients were enrolled in this...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2005.07.002

    authors: Lin HC,Young C,Wang PJ,Lee WT,Shen YZ

    更新日期:2006-04-01 00:00:00

  • A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.

    abstract:BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patien...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2017.06.004

    authors: Kojima K,Shirai K,Kobayashi M,Miyauchi A,Saitsu H,Matsumoto N,Osaka H,Yamagata T

    更新日期:2018-01-01 00:00:00

  • Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection.

    abstract::We report a 9-year-old girl with acute autonomic sensory and motor neuropathy (AASM) associated with human parvovirus B19 (HPV-B19) infection. The patient presented with fever, erythema of the entire body, and abdominal pain with vomiting. The titer of HPV-B19 IgM antibody was significantly elevated. Symptoms such as ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2010.03.003

    authors: Hanai S,Komaki H,Sakuma H,Nakagawa E,Sugai K,Sasaki M,Oya Y,Higurashi N,Hamano S

    更新日期:2011-02-01 00:00:00

  • Childhood disintegrative disorder.

    abstract::In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...

    journal_title:Brain & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0387-7604(02)00228-0

    authors: Mouridsen SE

    更新日期:2003-06-01 00:00:00

  • Autistic regression with and without EEG abnormalities followed by favourable outcome.

    abstract:OBJECTIVES:To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. METHODS:Follow up data on children with favourable outcome in a series of 534 cases aged below 5 years and diagnosed as ASD. RESULTS:Cases with regression were 167 (31.8%), usually with p...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2010.05.004

    authors: Zappella M

    更新日期:2010-10-01 00:00:00

  • Mucolipidosis III and Bardet-Biedl syndrome in the same family: diagnostic pitfalls.

    abstract::Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(12)80072-6

    authors: Gordon CR,Bar-Ziv Y,Frydman M,Zlotogora J,Gadoth N

    更新日期:1990-01-01 00:00:00

  • Extremely preterm infants small for gestational age are at risk for motor impairment at 3 years corrected age.

    abstract:BACKGROUND:Few studies have targeted psychomotor development and associated perinatal risk factors in Japanese very low birth weight (VLBW) infants who are severely small for gestational age (SGA). DESIGN/SUBJECTS:A single-center study was conducted in 104 Japanese VLBW infants who were born preterm, due to maternal, ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2015.07.008

    authors: Kato T,Mandai T,Iwatani S,Koda T,Nagasaka M,Fujita K,Kurokawa D,Yamana K,Nishida K,Taniguchi-Ikeda M,Tanimura K,Deguchi M,Yamada H,Iijima K,Morioka I

    更新日期:2016-02-01 00:00:00

  • Autoantibodies against neuronal progenitors in sera from children with autism.

    abstract::The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2013.04.015

    authors: Mazur-Kolecka B,Cohen IL,Gonzalez M,Jenkins EC,Kaczmarski W,Brown WT,Flory M,Frackowiak J

    更新日期:2014-04-01 00:00:00

  • Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report.

    abstract:BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.07.008

    authors: Kimura S,Shiraishi H,Egawa K,Uchida M,Ueno M

    更新日期:2021-01-01 00:00:00

  • Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

    abstract::We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2014.10.013

    authors: Montassir H,Maegaki Y,Murayama K,Yamazaki T,Kohda M,Ohtake A,Iwasa H,Yatsuka Y,Okazaki Y,Sugiura C,Nagata I,Toyoshima M,Saito Y,Itoh M,Nishino I,Ohno K

    更新日期:2015-08-01 00:00:00

  • Epidemiology of West syndrome in Singapore.

    abstract::The incidence of West syndrome (WS) was determined by a search of reports of electroencephalograms (EEG) recorded in 1998 and 1999 in all public hospitals in Singapore. Amongst records of patients born in 1998, nine were found with EEG features of hypsarrhythmia or modified hypsarrhythmia with onset of seizures betwee...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(01)00277-7

    authors: Lee WL,Ong HT

    更新日期:2001-11-01 00:00:00

  • Effectiveness of lidocaine infusion for status epilepticus in childhood: a retrospective multi-institutional study in Japan.

    abstract::We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...

    journal_title:Brain & development

    pub_type: 杂志文章,多中心研究

    doi:10.1016/j.braindev.2007.12.016

    authors: Hattori H,Yamano T,Hayashi K,Osawa M,Kondo K,Aihara M,Haginoya K,Hamano S,Izumi T,Kaneko K,Kato I,Matsukura M,Minagawa K,Miura T,Ohtsuka Y,Sugai K,Takahashi T,Yamanouchi H,Yamamoto H,Yoshikawa H

    更新日期:2008-09-01 00:00:00

  • A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase.

    abstract::A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(88)80045-7

    authors: Okada S,Kato T,Tanaka H,Takada K,Aramitsu Y

    更新日期:1988-01-01 00:00:00

  • A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.

    abstract::CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.02.008

    authors: Ozaki A,Sasaki M,Hiraide T,Sumitomo N,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sato N,Nakashima M,Saitsu H

    更新日期:2020-06-01 00:00:00

  • Two siblings with partial trisomy 1(q42.3-ter).

    abstract::Two brothers, aged 6 and 4 years, with an unbalanced chromosome translocation (partial trisomy 1), and their mother, a balanced carrier of the translocation, t(1;3)(q42.3;p26.3), were described. Both patients show minor anomalies; a large head with a prominent forehead, low-set and soaring ears, a high-arched palate, ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/0387-7604(93)90048-d

    authors: Sunaga Y,Ohtsuka T,Nagashima K,Kuroume T

    更新日期:1993-03-01 00:00:00

  • MicroRNA-31 regulating apoptosis by mediating the phosphatidylinositol-3 kinase/protein kinase B signaling pathway in treatment of spinal cord injury.

    abstract::Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apo...

    journal_title:Brain & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.braindev.2019.04.010

    authors: Wang Y,Yuan Y,Gao Y,Li X,Tian F,Liu F,Du R,Li P,Wang F,Xu S,Wu X,Wang C

    更新日期:2019-09-01 00:00:00

  • Hyperactivity, memory deficit and anxiety-related behaviors in mice lacking the p85alpha subunit of phosphoinositide-3 kinase.

    abstract::We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2008.04.006

    authors: Tohda C,Nakanishi R,Kadowaki M

    更新日期:2009-01-01 00:00:00

  • Pseudotumor cerebri as an important differential diagnosis of papilledema in children.

    abstract:INTRODUCTION:Primary pseudotumor cerebri (PTC) in childhood is a rare but important differential diagnosis in children presenting with papilledema. It is defined as elevated cerebrospinal fluid (CSF) pressure of more than 20 cm H(2)O, normal CSF composition, and exclusion of underlying structural or systemic causes. Vi...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2005.07.003

    authors: Distelmaier F,Sengler U,Messing-Juenger M,Assmann B,Mayatepek E,Rosenbaum T

    更新日期:2006-04-01 00:00:00

  • Effect of topiramate, in combination with lidocaine, and phenobarbital, in acute encephalitis with refractory repetitive partial seizures.

    abstract:OBJECTIVE:Acute encephalitis with refractory repetitive partial seizure (AERRPS) is a peculiar type of post-encephalitic/encephalopathic epilepsy. Here we report an analysis of AERRPS in a series of children and propose an effective treatment option for seizure control in these children. METHODS:We retrospectively rev...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2008.09.010

    authors: Lin JJ,Lin KL,Wang HS,Hsia SH,Wu CT

    更新日期:2009-09-01 00:00:00

  • Cockayne syndrome: report of two siblings and review of literature in Japan.

    abstract::Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(79)80046-7

    authors: Jin K,Handa T,Ishihara T,Yoshii F

    更新日期:1979-01-01 00:00:00

  • Eye contact and emotional face processing in 6-month-old infants: advanced statistical methods applied to event-related potentials.

    abstract::Event-related potential (ERP) studies with infants are often limited by a small number of measurements. We introduce a weighted general linear mixed model analysis with a time-varying covariate, which allows for the efficient analysis of all available event-related potential data of infants. This method allows control...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2009.04.001

    authors: Stahl D,Parise E,Hoehl S,Striano T

    更新日期:2010-04-01 00:00:00

  • Menkes disease: is vitamin C treatment effective?

    abstract::The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The cl...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(85)80122-4

    authors: Ueki Y,Narazaki O,Hanai T

    更新日期:1985-01-01 00:00:00

  • Which factors determine febrile seizure recurrence? A prospective study.

    abstract:PURPOSE:Many factors have been studied as potential predictors of recurrent febrile seizures (FS), however the available data in literature are inconsistent. The aim of the present paper is to determine which factors are responsible for the first and for multiple recurrences of FS, in a large sample of children with a ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2007.05.001

    authors: Pavlidou E,Tzitiridou M,Kontopoulos E,Panteliadis CP

    更新日期:2008-01-01 00:00:00

  • Neurologic deterioration with progressive CT changes in a child with Kearns-Shy syndrome.

    abstract::A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Electromyography revealed a myopathic pattern. Histochemical studies on quadrice...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(84)80046-7

    authors: Yoda S,Terauchi A,Kitahara F,Akabane T

    更新日期:1984-01-01 00:00:00

  • Treatment of CNS neoplasms in childhood by the Pediatric Oncology Group.

    abstract::The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...

    journal_title:Brain & development

    pub_type: 杂志文章,评审

    doi:10.1016/s0387-7604(89)80017-8

    authors: Cohen ME,Duffner PK

    更新日期:1989-01-01 00:00:00

  • Changes in BAER amplitudes after perinatal asphyxia during the neonatal period in term infants.

    abstract::We recorded serially brainstem auditory evoked response (BAER) during the neonatal period in term infants who suffered perinatal asphyxia. The amplitudes of BAER components was analysed at 40 dB above BAER threshold of each subject who had a threshold

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2006.03.004

    authors: Jiang ZD,Shao XM,Wilkinson AR

    更新日期:2006-10-01 00:00:00

  • Premonitory urges for tics in adult patients with Tourette syndrome.

    abstract:OBJECTIVE:Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2012.12.010

    authors: Crossley E,Seri S,Stern JS,Robertson MM,Cavanna AE

    更新日期:2014-01-01 00:00:00

  • Short latency somatosensory evoked potentials and 99mTc-HMPAO SPECT in a case of flunarizine-effective alternating hemiplegia in infancy.

    abstract::Short latency somatosensory evoked potentials (SSEPs) and 99mTc-hexamethylpropylene amine oxime single photon emission computed tomography (99mTc-HMPAO SPECT) were examined in a patient with alternating hemiplegia in infancy (AHI) before and after flunarizine treatment. The low amplitude and elongation of the latency ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/0387-7604(94)90032-9

    authors: Imamura A,Komori Y,Fukutomi O,Shimozawa N,Suzuki Y,Kondo N,Orii T

    更新日期:1994-07-01 00:00:00

  • Clinical analysis of catastrophic epilepsy in infancy and early childhood: results of the Far-East Asia Catastrophic Epilepsy (FACE) study group.

    abstract:PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2013.02.004

    authors: Oguni H,Otsuki T,Kobayashi K,Inoue Y,Watanabe E,Sugai K,Takahashi A,Hirose S,Kameyama S,Yamamoto H,Hamano S,Baba K,Baba H,Hong SC,Kim HD,Kang HC,Luan G,Wong TT

    更新日期:2013-09-01 00:00:00

  • REM sleep abnormalities in severe athetoid cerebral palsy.

    abstract::Various abnormalities of sleep have been reported in extrapyramidal diseases in adults. We have investigated the disturbances of REM sleep (SREM) in severe athetoid cerebral palsy (ACP) originating perinatally. Ten ACP patients, 5 males and 5 females ranging from 15 to 30 years old, were studied by means of all-night ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/s0387-7604(12)80214-2

    authors: Hayashi M,Inoue Y,Iwakawa Y,Sasaki H

    更新日期:1990-01-01 00:00:00