Abstract：
BACKGROUND:The juvenile form of GM1 gangliosidosis lacks specific physical findings and thus is often a diagnostic challenge for clinicians. T2 hypodensity in the globus pallidus is a characteristic radiographic sign of neurodegeneration with iron accumulation in the brain that is observed in GM1 gangliosidosis, but the exact timing when this radiographic sign becomes apparent remains to be elucidated. PATIENTS:Two male siblings had normal development until 2 years of age and then developed psychomotor regression with dystonia. Their neuroimaging studies indicated progressive global cerebral atrophy. Exome sequencing identified compound heterozygous missense mutations in GLB1, leading to a diagnosis of GM1 gangliosidosis. RESULTS:A retrospective review of neuroimaging studies revealed that the two patients had strikingly similar clinical courses and radiographic progressions with cortical atrophy that preceded the T2 hypointensity in the globus pallidus. CONCLUSIONS:Paramagnetic signals in the globus pallidus become apparent relatively late during the disease course, once cerebral atrophy has already become prominent. A comprehensive diagnostic approach involving clinical, radiographic, and genetic testing is necessary for the early identification of affected individuals.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Takenouchi T,Kosaki R,Nakabayashi K,Hata K,Takahashi T,Kosaki Kdoi
10.1016/j.pediatrneurol.2014.09.022subject
Has Abstractpub_date
2015-02-01 00:00:00pages
226-9issue
2eissn
0887-8994issn
1873-5150pii
S0887-8994(14)00613-4journal_volume
52pub_type
杂志文章abstract：:Miller-Dieker syndrome (MDS) is a prototype of brain malformations characterized by abnormal neuronal migration. To clarify the pathomechanisms underlying these anomalies, we performed immunohistochemical studies using specific antibodies against the protein product of LIS-1, the candidate gene responsible for the MDS...
journal_title：Pediatric neurology
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更新日期：1997-01-01 00:00:00
abstract：BACKGROUND:No therapies have been formally approved by the Food and Drug Administration for use in pediatric multiple sclerosis, a rare disease. OBJECTIVE:We evaluated the safety, efficacy, and pharmacokinetics of dimethyl fumarate in pediatric patients with multiple sclerosis. METHODS:FOCUS, a phase 2, multicenter s...
journal_title：Pediatric neurology
pub_type： 杂志文章,多中心研究
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更新日期：2018-06-01 00:00:00
abstract：:Two siblings presented with identical features of progressive peripheral paralysis of the lower motor neuron type, pyramidal signs, cranial nerve palsy which included external ocular palsy and deafness, and internal ocular palsy; both died before 1 year of age. Pathologic examination of the central nervous system in b...
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journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
pub_type： 杂志文章,评审
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更新日期：2002-03-01 00:00:00
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journal_title：Pediatric neurology
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doi：10.1016/j.pediatrneurol.2014.05.016
更新日期：2014-09-01 00:00:00
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journal_title：Pediatric neurology
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更新日期：2012-06-01 00:00:00
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journal_title：Pediatric neurology
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更新日期：1997-04-01 00:00:00
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journal_title：Pediatric neurology
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更新日期：2016-10-01 00:00:00
abstract：:The objective of this study was to examine the factors associated with the occurrence of behavioral and cognitive abnormalities in children treated with topiramate. A retrospective chart review of patients up to 18 years of age who had been treated with topiramate at a tertiary epilepsy center was performed. Behaviora...
journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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pub_type： 杂志文章,多中心研究
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更新日期：2018-12-01 00:00:00
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journal_title：Pediatric neurology
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journal_title：Pediatric neurology
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doi：10.1016/j.pediatrneurol.2008.09.020
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journal_title：Pediatric neurology
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pub_type： 杂志文章,评审
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更新日期：2017-04-01 00:00:00
abstract：:Hypomelanosis of Ito has been associated with precocious puberty in two cases. This study reports a third case involving a female with hypomelanosis of Ito including severe mental retardation and seizure disorder with autonomic symptoms (gastroesophageal reflux and asthma). At age 5 she developed vaginal discharge, th...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.06.004
更新日期：2006-01-01 00:00:00
abstract：:The aim of this study is to further clarify ictal electroencephalographic findings of patients with benign partial epilepsy in infancy in order to better understand its neurophysiologic features. The study group consisted of 13 infants with definite benign partial epilepsy in infancy, in whom ictal electroencephalogra...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.08.004
更新日期：2007-01-01 00:00:00
