Abstract：
:Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents. Macrocephaly, a slowly progressive delay in motor development and mild mental deterioration constitute the clinical triad of the disease, showing characteristic age-related onset. The clinical findings outlined remarkably slight functional deterioration despite severe lesions on magnetic resonance imaging (MRI), especially in the initial period. Characteristically, mental function is preserved for years after onset of the motor deficit. The MRI lesions do not reflect the progress of disease. The disease probably has an autosomal recessive mode of inheritance even though no metabolic defect has been detected to date. In a more severe variant of the mentioned disease, there is more progressive and severe neurological dysfunction, including ataxia and spastic quadriparesis, leading to an inability to walk independently after 10 years of age. In mild variants, however, disease severity varies from macrocephaly with near-normal pyschomotor development to mild motor and/or mental dysfunction. Seizures were observed in both types but response to drugs was good. The 12 patients reported here confirm the specific and distinguishing clinical and radiological features of the previously reported 51 cases with this new syndrome, while adding some information regarding identification of the disease.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Topcu M,Saatci I,Topcuoglu MA,Kose G,Kunak Bdoi
10.1016/s0387-7604(98)00002-3subject
Has Abstractpub_date
1998-04-01 00:00:00pages
142-53issue
3eissn
0387-7604issn
1872-7131pii
S0387760498000023journal_volume
20pub_type
杂志文章abstract：:Communicating hydrocephalus was inadvertently induced in a neonate by bilateral jugular vein catheterization. Removal of one catheter resulted in return to normal ventricular size within 14 days. The complication of hydrocephalus from bilateral jugular vein catheterization can be reversed by prompt removal of one cath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(82)80026-0
更新日期：1982-01-01 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：OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.002
更新日期：2016-08-01 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：:We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.05.004
更新日期：2010-06-01 00:00:00
abstract：:In children, the conditions defined as "ataxia" form a very heterogeneous group. They also often differ from the "ataxias" of adults. In many cases this can be attributed to their different etiology, but probably it is also due to the peculiar functional and physiopathologic characteristics of the cerebellar system du...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80324-x
更新日期：1990-01-01 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：BACKGROUND:Guillain-Barré syndrome and myasthenia gravis both lead to muscle weakness but the two combined is uncommon. Detection of these entities can help identify forms of autoimmune neuromuscular diseases that may respond to immunotherapy. This report sought to characterize the clinical features of these two entiti...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.10.016
更新日期：2013-10-01 00:00:00
abstract：:Neopterin and biopterin concentrations were measured in cerebrospinal fluid (CSF) and urine samples from controls less than 1 year old. This is the first time for CSF reference data for controls less than 1 year old to be reported. The ratio of neopterin to biopterin in CSF 0-30 days (n = 48) of age in control samples...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00021-2
更新日期：1999-06-01 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：:Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.10.007
更新日期：2006-06-01 00:00:00
abstract：OBJECTIVE:To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past. METHODS:Based on data from ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2013.05.003
更新日期：2013-09-01 00:00:00
abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00284-4
更新日期：2001-11-01 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：:Tourette's syndrome is manifested in a broad spectrum of motor, vocal, and behavioral disturbances. Movement disorders, such as tics, may contribute to the development of cervical myelopathy owing to the effects of involuntary movements on the neck. However, the association of cervical myelopathy with motor tics of th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.05.009
更新日期：2007-03-01 00:00:00
abstract：:We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00217-6
更新日期：2003-04-01 00:00:00
abstract：OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.12.006
更新日期：2021-01-09 00:00:00
abstract：:A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80032-4
更新日期：1989-01-01 00:00:00
abstract：PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.014
更新日期：2013-04-01 00:00:00
abstract：:A 2-year-old boy with herpes simplex encephalitis developed diffuse brain lesions involving the white matter of both cerebral hemispheres. These lesions in the white matter were clearly observed on magnetic resonance imaging (MRI) with the T2-weighted sequence, and were found to have spontaneously disappeared on subse...
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：:Long-term social prognosis of 120 Japanese patients with West syndrome was surveyed using structured questionnaire at the age of 25.4 years in average. The survey revealed that ADL score remained null in one-fifth of cases; the majority entered in special education course for disabled children; only eleven cases were ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00269-8
更新日期：2001-11-01 00:00:00
abstract：:Oral motor patterns during feeding were investigated in 58 patients with severe physical disability. Five patients showed a pattern resembling sucking. Twenty-nine exhibited an up-and-down movement of the jaw and protrusion of the tongue. Among these, the mouth opened when the food entered and the lips closed before s...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(97)00077-6
更新日期：1997-12-01 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：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.08.004
更新日期：2016-02-01 00:00:00
abstract：:MPS type II (Hunter disease) results from deficiency of the lysosomal enzyme iduronate-2-sulfate sulfatase. Two forms of the disease have been recognized, based on absence or presence of progressive intellectual deterioration. This study aimed to assess activities of daily life (ADL) in 27 Hunter disease-affected Japa...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.08.015
更新日期：2007-06-01 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：:A 10-year-old male patient, who had suffered from intractable convulsions from the neonatal period, is presented. Serial brain images suggested slow, gradual destruction of neural elements. Human cytomegalovirus (HCMV) DNA was detected in his cerebrospinal fluid (CSF) by means of the polymerase chain reaction. Intrath...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90086-n
更新日期：1993-11-01 00:00:00
abstract：:Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.12.014
更新日期：2010-02-01 00:00:00
abstract：:Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.014
更新日期：2010-01-01 00:00:00
