نتایج جستجو برای: hemimegalencephaly
تعداد نتایج: 239 فیلتر نتایج به سال:
Cerebral ultrasound and colour Doppler flow imaging (CDFI) were used to diagnose a wide spectrum of anomalies of cell migration (17 patients): presumed lissencephaly (n = 12); schizencephaly of both fused (n = 2) and open lips (n = 2); hemimegalencephaly (n = 1); and subependymal type grey matter heterotopia (n = 12). The patients with grey matter heterotopia had irregular ventricular margins (...
PURPOSE To investigate whether MR can provide additional information on fetuses with central nervous system abnormalities as demonstrated by ultrasonography. METHODS Fetal MR examinations were studied prospectively in 22 pregnant women whose fetuses showed evidence of anomalies on ultrasound performed in the High-Risk Obstetric Clinic. RESULTS In 19 of 22 cases, postpartum confirmatory diag...
We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, a...
Acute intermittent porphyria is a metabolic disorder rarely seen in prepubertal children. A delay in diagnosis of acute intermittent porphyria is common because of variable and nonspecific symptoms. We report an 8-year-old boy with right hemimegalencephaly and intractable seizures, who presented with dark-colored urine, hypertension, increasing lethargy, fluctuating seizures, and poor oral inta...
Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that two out of eight HMG samples showed trisomy of chromosome 1q, ...
Dysregulation of the mTOR signaling pathway is associated with highly epileptogenic conditions such as tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly and ganglioglioma, grouped under the term of 'mTORopathies'. Brain abnormalities associated with mTOR overactivation include enlarged and dysplastic neurons, abnormal cortical organization and astrogliosis. mTOR signaling interve...
De novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree to which they occur somatically, and during development, is unknown. Single-cell whole-genome sequencing (WGS) in >200 single cells, including >160 neurons from three normal and two pathological human brains, sensitively identified germline trisomy of chromosome 18 but found most (≥ 95%) neurons in normal bra...
Focal cortical dysplasias are common malformations of cerebral cortical development and are highly associated with medically intractable epilepsy. They have been classified into neuropathological subtypes (type Ia, Ib, IIa, IIb, and III) based on the severity of cytoarchitectural disruption--tangential or radial dispersion, or loss of laminar structure--and the presence of unique cells types su...
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