Abstract:
:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bilateral optic atrophy and the visual evoked potentials documented prolonged latencies. Further, motor and sensory conduction velocities were normal. Chromosomal examinations for the sibs and their parents showed normal results. The majority of cases are sporadic but rare reports of recurrence in siblings exist. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Our report adds more weight that brain stem dysgenesis could be associated with DWM, increasing the spectrum of heterogeneity of this malformation.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Abdel-Salam GM,Shehab M,Zaki MSdoi
10.1016/j.braindev.2006.01.009keywords:
subject
Has Abstractpub_date
2006-09-01 00:00:00pages
529-33issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(06)00050-7journal_volume
28pub_type
杂志文章abstract:BACKGROUND:Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estim...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.05.004
更新日期:2020-09-01 00:00:00
abstract::MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.012
更新日期:2007-06-01 00:00:00
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
更新日期:2003-06-01 00:00:00
abstract::The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.10.007
更新日期:2007-07-01 00:00:00
abstract::The electroencephalographic features and their evolutional changes with age were described in three cases of lissencephaly syndrome diagnosed by CT scan. The case with more severe lissencephaly displayed very similar EEG findings. In early or middle infancy when infantile spasms began, EEG showed very high amplitude (...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80042-x
更新日期:1979-01-01 00:00:00
abstract:OBJECTIVE:To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS:We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.04.006
更新日期:2018-09-01 00:00:00
abstract::21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.004
更新日期:2010-05-01 00:00:00
abstract:PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.04.003
更新日期:2019-09-01 00:00:00
abstract::Midazolam is a relatively new anticonvulsive agent in the benzodiazepine group. It has a short onset of duration and is practical for use, providing several alternatives such as intravenous, intramuscular, and intranasal routes. The buccal route could be an alternative choice for seizure control in an emergency settin...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00230-9
更新日期:2003-06-01 00:00:00
abstract::We report an 11-yr-old girl who visited the outpatient department of Islamabad Children's Hospital with uncontrolled seizures, psychomotor retardation and hand washing movements since early childhood. She had an uneventful peri- and neonatal history with a normal head size at birth and fulfilled the criteria of classi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80045-3
更新日期:1991-11-01 00:00:00
abstract:INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.11.001
更新日期:2018-04-01 00:00:00
abstract::The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00557-8
更新日期:1997-04-01 00:00:00
abstract::A 6-month-old boy with persistent primitive trigeminal artery (PPTA) presented with stridor, dysphagia, delayed motor development and postural neck and shoulder dystonia. Magnetic resonance imaging/angiography and ultrasonography revealed PPTA, with flow from the dilated basilar artery to the right internal carotid ar...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.08.008
更新日期:2007-04-01 00:00:00
abstract::Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80076-1
更新日期:1987-01-01 00:00:00
abstract::A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00308-4
更新日期:2001-11-01 00:00:00
abstract::To better define the characteristic clinical features of benign convulsions with mild gastroenteritis, recently recognized as a new entity in Japan, we reviewed all the 10 patients we have seen from 1992 to 1994. The clinical features have been previously reported in the literature to be afebrile generalized tonic-clo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00074-l
更新日期:1995-09-01 00:00:00
abstract::Abnormalities of the cerebral arteries and the aorta are more common in young patients with tuberous sclerosis than in the rest of the population. Strokes have been reported but there is no confirmation that embolization of cerebral arteries by fragments of cardiac rhabdomyoma plays a role in the higher incidence of s...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(89)80003-8
更新日期:1989-01-01 00:00:00
abstract: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 ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.02.002
更新日期:2020-05-01 00:00:00
abstract::Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.01.002
更新日期:2012-01-01 00:00:00
abstract::A study of epileptic drop attacks (EDA) by simultaneous video-polygraphic recordings was carried out in one epileptic patient with myoclonic astatic seizures (Doose syndrome). EDA was shown to correspond to a burst of generalized bilaterally synchronous spike and wave complexes (GBSSW) at 3 Hz. Absence seizures were a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90070-o
更新日期:1993-05-01 00:00:00
abstract::We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immedi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.01.009
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Benign epilepsy with centrotemporal spikes is the most common partial epilepsy syndrome in children. The long-term prognosis for children with BECTS is believed to be generally excellent with seizures usually responding well to AEDs. The goal of the present study was to determine the risk factors associated ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.02.008
更新日期:2015-01-01 00:00:00
abstract::This report concerns a 6-year-old girl who showed peculiar symptoms but responded favourably to L-dopa. She developed normally until around 1 year of age, at which time head instability, hypotonia, increased deep tendon reflexes and choreoathetotic movements developed. These symptoms appeared to worsen in the afternoo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80299-3
更新日期:1991-01-01 00:00:00
abstract::Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-t...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.02.013
更新日期:2016-09-01 00:00:00
abstract::The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.12.001
更新日期:2011-06-01 00:00:00
abstract::Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the g...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80066-3
更新日期:1986-01-01 00:00:00
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
更新日期:2018-01-01 00:00:00
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
更新日期:2008-09-01 00:00:00
abstract::We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(95)00021-3
更新日期:1995-05-01 00:00:00
abstract::A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80154-9
更新日期:1992-09-01 00:00:00