Abstract：
:Septo-optic-pituitary dysplasia is a syndrome characterized by abnormalities of midline brain structures, optic nerve hypoplasia, and congenital hypothalamic-pituitary insufficiency. Four infants, diagnosed as having clinical variations of this disorder, are described. The first had agenesis of the septum pellucidum and corpus callosum, partial hypothalamic insufficiency, and normal optic nerves. The second had a structurally normal brain, bilateral optic nerve hypoplasia, and panhypopituitarism. The third had bilateral agenesis of the cerebral cortex, bilateral optic nerve hypoplasia and partial hypothalamic insufficiency. The fourth had a structurally normal brain, unilateral optic nerve hypoplasia and panhypopituitarism. A review of the recent literature revealed 191 patients with bilateral optic nerve hypoplasia who were examined for possible existence of this syndrome. Of the 178 patients who had radiographic imaging of the brain, 60% were found to have structural abnormalities. Of the 145 patients evaluated for pituitary function, 62% had evidence of insufficiency. Approximately 30% of fully evaluated patients had evidence of all three components of the syndrome. Because of high incidence of structural abnormalities of the brain and congenital hypopituitarism in patients with optic nerve hypoplasia, we conclude that full evaluation is indicated in patients with any of the three components of the syndrome.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Morishima A,Aranoff GSdoi
10.1016/s0387-7604(86)80075-4subject
Has Abstractpub_date
1986-01-01 00:00:00pages
233-9issue
3eissn
0387-7604issn
1872-7131pii
S0387-7604(86)80075-4journal_volume
8pub_type
杂志文章abstract：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.06.004
更新日期：2009-05-01 00:00:00
abstract：:Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2019.10.002
更新日期：2020-02-01 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：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.03.011
更新日期：2018-08-01 00:00:00
abstract：:From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80054-x
更新日期：1981-01-01 00:00:00
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
更新日期：2010-04-01 00:00:00
abstract：:Two siblings, male and female, with identical lethal brain malformation are described. Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. Brainst...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80008-9
更新日期：1982-01-01 00:00:00
abstract：:Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 pa...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80049-9
更新日期：1987-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00022-3
更新日期：1997-06-01 00:00:00
abstract：:The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2003.11.002
更新日期：2004-09-01 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：:To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We exte...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.004
更新日期：2007-11-01 00:00:00
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
更新日期：2006-04-01 00:00:00
abstract：:A patient with adrenoleukodystrophy was successfully treated by means of intravenous gammaglobulin injections. The clinical symptoms, especially visual loss, were apparently relieved and no neurological deterioration was observed during a 18-month period following the start of the gammaglobulin treatment. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80083-x
更新日期：1989-01-01 00:00:00
abstract：:We report herein the case of a 9-year-old girl with life-threatening hyperkinetic involuntary movement of unknown etiology. Medical treatment was ineffective for her stereotypy and choreoathetotic/ballistic movements, but bilateral stimulation of the globus pallidus immediately alleviated these symptoms. Pallidal deep...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.08.003
更新日期：2009-06-01 00:00:00
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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：:Potassium bromide was tried for two children with daily convulsive focal motor seizures with unconsciousness and focal motor seizure status. The treatment resulted in complete cessation of the attacks. It has been reported that bromide is effective for generalized tonic-clonic seizures and not for complex partial seiz...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00023-2
更新日期：2002-04-01 00:00:00
abstract：:In the past decade research on childhood epilepsy in our country has progressed in a step-by-step fashion. At first clinical experiences of the diagnosis and treatment of childhood epilepsy and febrile convulsions as to the results of follow-up studies were published. These have helped to overcome the barriers of trad...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：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 bee...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.01.010
更新日期：2018-06-01 00:00:00
abstract：OBJECTIVE:To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. METHODS:Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.04.005
更新日期：2020-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00144-3
更新日期：2000-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.03.015
更新日期：2015-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00141-7
更新日期：1996-03-01 00:00:00
abstract：:The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of la...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80040-3
更新日期：1989-01-01 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：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.10.002
更新日期：2016-04-01 00:00:00
abstract：:The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80030-9
更新日期：1985-01-01 00:00:00
abstract：:Forty-eight subjects with Tourette syndrome (M 36, F 12; mean age 11.2 years) and 48 with chronic tic disorder (M 33, F 15; mean age 12.1 years) were recruited in order to study the vertical transmission within families of a vulnerability to tic disorders or to other psychiatric disorders, the role of adverse pre- and...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.09.007
更新日期：2005-08-01 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 describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.03.018
更新日期：2005-11-01 00:00:00
