Diagnostic yield of brain biopsies in children presenting to neurology
Child; Female; Humans; Male; Odds Ratio; Predictive Value of Tests; Outcome and Process Assessment (Health Care); Preschool; infant; retrospective studies; Brain/pathology; Diagnosis; Differential; Children W/SNI; Epilepsy/pathology; Likelihood Functions; Decision Trees; Biopsy/statistics & numerical data; Brain Diseases/pathology; Neurodegenerative Diseases/pathology; Vasculitis/pathology
The role of brain biopsy is well established in patients with neoplastic lesions, with a diagnostic yield approaching 95%. The diagnostic yield of brain biopsy in adults with neurological decline varies from 20% to 43%. Only a few studies have examined the diagnostic yield of brain biopsy in children with idiopathic neurological decline. A retrospective analysis was conducted on all open and closed pediatric brain biopsies performed between January 1988 and May 2003. Biopsies were performed for diagnostic purposes in patients showing a progressively deteriorating neurologic course in whom less-invasive modalities such as neuroimaging, electroencephalography (EEG), and molecular genetic studies were either negative or inconclusive. Immunocompromised patients were included. Patients were excluded if the preoperative diagnosis was a neoplasm or if the patient was undergoing a resection as part of a work-up for intractable epilepsy. Each patient underwent numerous investigations before brain biopsy. The utility of each biopsy was analyzed. Sixty-six children had brain biopsies performed for diagnostic purposes during the study period. Patient ages ranged from 2 months to 16 years and 9 months at the time of biopsy. The diagnostic yield was 48.5% overall, with a yield of 68.8% between 1996 and 2003. Of the total, 26 (39.4%) biopsies were both diagnostic and useful. Patients most frequently presented with seizures (56.1%) and encephalopathy (33%). The most frequently diagnosed disease was vasculitis (18.2%). A total of 71.9% of patients with diagnostic biopsies improved with appropriate treatment. Brain biopsy in children had a diagnostic yield of 48.5% in our series. A specific diagnosis may help in management and outcome, especially with a diagnosis of vasculitis.
2008
Venkateswaran S; Hawkins C; Wassmer E
Journal Of Child Neurology
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1177/0883073807309254" target="_blank" rel="noreferrer">10.1177/0883073807309254</a>
Links between abnormal brain structure and cognition in holoprosencephaly
Child; Female; Humans; Male; Age Factors; Severity of Illness Index; Cognition; Sex Factors; Predictive Value of Tests; adolescent; Preschool; infant; Q3 Literature Search; Neuropsychological Tests; Brain/abnormalities; Cognition Disorders/pathology; Corpus Striatum/abnormalities; Epilepsy/pathology; Holoprosencephaly/pathology; Hypothalamus/abnormalities; Motor Skills Disorders/pathology; Thalamic Nuclei/abnormalities
Converging information on medical issues, motor ability, and cognitive outcomes is essential when addressing long-term clinical management in children with holoprosencephaly. This study considered whether adding more informative structural indices to classic holoprosencephaly categories would increase prediction of cognitive outcomes. Forty-two children with holoprosencephaly were examined to determine the association of deep gray nuclei abnormalities with cognitive abilities and the effect of motor skill deficits on cognitive performance. Additionally, a cognitive profile was described using the Carter Neurocognitive Assessment, an experimental diagnostic instrument designed specifically for young children with severe neurodevelopmental dysfunction. Findings indicated that nonseparation of the deep gray nuclei was significantly associated with the cognitive construct of vocal communication, but not with the cognitive constructs of social awareness, visual attention, or auditory comprehension. Importantly, motor skill deficits did not significantly affect performance on the Carter Neurocognitive Assessment. This study is the first investigation to provide a descriptive overview of specific cognitive skills in this group of children. The results also strongly suggest that this feature of the brain's structure does not predict all aspects of neurodevelopmental function. These findings contribute a critical component to the growing body of knowledge regarding the medical and clinical outcomes of children with holoprosencephaly.
2006
Roesler CP; Paterson SJ; Flax J; Hahn JS; Kovar C; Stashinko EE; Jing H; Benasich AA
Pediatric Neurology
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/j.pediatrneurol.2006.07.004" target="_blank" rel="noreferrer">10.1016/j.pediatrneurol.2006.07.004</a>
Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria
Child; Female; Humans; Male; Adult; Follow-Up Studies; Magnetic Resonance Imaging; adolescent; Preschool; infant; Q3 Literature Search; Tomography; X-Ray Computed; Electroencephalography; Epilepsy/pathology; Brain/abnormalities/pathology; Frontal Lobe/pathology; Gait Disorders; Neurologic/complications/pathology; Temporal Lobe/pathology
We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51 children with either unilateral PMG or closed-lip SCHZ were selected through neuroradiological analysis for investigation at our service. We evaluated the frequency of epilepsy, electroclinical features and evolution. The mean time of follow-up was 7 years (range 1-12 years). All patients underwent neurological examination, computed tomography scan and magnetic resonance imaging, serial electroencephalographic (EEG) recordings and neuropsychological assessment. Thirty-six of the 51 patients had unilateral PMG. All patients had hemiparesis with mild spasticity. Mental retardation was mild in 20 and moderate in 14. In two patients IQ was normal. Partial motor seizures were recorded in 28 patients, with secondary generalization in 20. The median age at onset of seizures was 2 years (range 4 months-7 years). Interictal EEGs showed unilateral spikes in all patients. In 21 patients epilepsy worsened between the ages of 4 and 8 (mean 5.6 years) with frequent atonic seizures, atypical absences, epileptic negative myoclonus and gait difficulties. EEGs showed continuous spike-wave activity or bilateral high-frequency spike discharges during slow-wave sleep. Frequent relapses of atonic and myoclonic seizures were seen in nine patients. At present, 16 patients are seizure-free. Fifteen patients with unilateral SCHZ were included in the study. Focal motor seizures were registered in seven cases, in three of them with secondary generalization. The median age at onset of epilepsy was 2.5 years (range 1-4 years). Interictal EEGs showed unilateral spikes in these seven cases. All patients except one presented mild spastic hemiparesis. Mental retardation was mild in ten children, moderate in two and IQ was normal in three. Although the underlying mechanisms leading to PMG and SCHZ are probably similar, the electroclinical phenomenon of secondary bilateral synchrony with frequent negative myoclonus was not present in our cases with unilateral closed-lip SCHZ.
2004
Caraballo RH; Cersosimo RO; Fejerman N
Brain & Development
2004
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/S0387-7604(03)00113-X" target="_blank" rel="noreferrer">10.1016/S0387-7604(03)00113-X</a>