Pediatric schwannomatosis, a rare but distinct form of neurofibromatosis.

Schwannomatosis is the third major form of neurofibromatosis, distinct from neurofibromatosis type 2 (NF2) and type 1 (NF1). This condition is rare with a variable phenotypic presentation and complex molecular and genetic findings. In this case, a previously healthy teenager was found to have multiple spinal lesions and an enhancing right parotid mass on MRI.

Comparison of radiation dose estimates and scan performance in pediatric high-resolution thoracic CT for volumetric 320-detector row, helical 64-detector row, and noncontiguous axial scan acquisitions.

Rationale And Objectives: Efforts to decrease radiation exposure during pediatric high-resolution thoracic computed tomography (HRCT), while maintaining diagnostic image quality, are imperative. The objective of this investigation was to compare organ doses and scan performance for pediatric HRCT using volume, helical, and noncontiguous axial acquisitions.

Materials And Methods: Thoracic organ doses were measured using 20 metal oxide semiconductor field-effect transistor dosimeters.

Comparison of radiation dose estimates, image noise, and scan duration in pediatric body imaging for volumetric and helical modes on 320-detector CT and helical mode on 64-detector CT.

Background: Advanced multidetector CT systems facilitate volumetric image acquisition, which offers theoretic dose savings over helical acquisition with shorter scan times.

Objective: Compare effective dose (ED), scan duration and image noise using 320- and 64-detector CT scanners in various acquisition modes for clinical chest, abdomen and pelvis protocols.

Materials And Methods: ED and scan durations were determined for 64-detector helical, 160-detector helical and volume modes under chest, abdomen and pelvis protocols on 320-detector CT with adaptive collimation and 64-detector helical mode on 64-detector CT without adaptive collimation in a phantom representing a 5-year-old child.

Radiation dose estimation for prospective and retrospective ECG-gated cardiac CT angiography in infants and small children using a 320-MDCT volume scanner.

Objective: The purpose of this study is to determine patient dose estimates for clinical pediatric cardiac-gated CT angiography (CTA) protocols on a 320-MDCT volume scanner.

Materials And Methods: Organ doses were measured using 20 metal oxide semiconductor field effect transistor (MOSFET) dosimeters. Radiation dose was estimated for volumetrically acquired clinical pediatric prospectively and retrospectively ECG-gated cardiac CTA protocols in 5-year-old and 1-year-old anthropomorphic phantoms on a 320-MDCT scanner.

Comparison of standard, prone and cine MRI in the evaluation of tethered cord.

Background: Tethered cord syndrome (TCS) is defined by abnormal traction on the spinal cord that confines its movement. Surgical cord release usually stops neurological deterioration; therefore, early and accurate neuroradiological diagnosis is important. Supine MRI is the imaging modality of choice, but prone MRI and cine MRI can demonstrate cord movement.

Proton magnetic resonance spectroscopy in adults with childhood lead exposure.

Background: Childhood lead exposure adversely affects neurodevelopment. However, few studies have examined changes in human brain metabolism that may underlie known adverse cognitive and behavioral outcomes.

Objective: We examined the association between mean childhood blood lead levels and in vivo brain metabolite concentrations as adults, determined by proton magnetic resonance spectroscopy (MRS) in a birth cohort with documented low-to-moderate lead exposure.

Morphometric differences in the Heschl's gyrus of hearing impaired and normal hearing infants.

This study investigates the morphometry of Heschl's gyrus and its included primary auditory cortex (PAC) in hearing impaired (HI) and normal hearing (NH) infants. Fourty-two infants, age 8-19 months, with NH (n = 26) or hearing impairment (n = 16) were studied using high-resolution 3D magnetic resonance imaging. Gray matter (GM) and white matter (WM) volumes were obtained using software for automatic brain imaging segmentation to estimate the volume of each tissue within manually defined regions for the anterior portion of Heschl's gyrus (aHG) in each individual subject, transformed to an infant brain template space.

Altered myelination and axonal integrity in adults with childhood lead exposure: a diffusion tensor imaging study.

Childhood lead exposure is associated with adverse cognitive, neurobehavioral and motor outcomes, suggesting altered brain structure and function. The purpose of this work was to assess the long-term impact of childhood lead exposure on white matter integrity in young adults. We hypothesized that childhood lead exposure would alter adult white matter architecture via deficits in axonal integrity and myelin organization.

Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy.

Objective: To assess sleep-disordered breathing (SDB), sleep architecture, and arousal pattern in infants with achondroplasia and to evaluate the relationship between foramen magnum size and the severity of SDB.

Study Design: A retrospective review of polysomnographic recordings and medical records was performed in infants with achondroplasia and in aged-matched control subjects. All studies were re-scored with the emphasis on respiratory events, sleep state, and arousals.

Neurologic outcome in neonatal temporal lobe hemorrhagic venous infarcts.

Consequences of neonatal cerebral venous infarct can be severe. However, we have identified a series of neonates with unilateral temporal lobe infarcts, suspected to be secondary to superficial cortical venous thrombosis, who have had relatively normal outcomes. Medical records were reviewed retrospectively.

Estimation of heritabilities, genetic correlations, and breeding values of four traits that collectively define hip dysplasia in dogs.

OBJECTIVE-To estimate heritabilities and genetic correlations among 4 traits of hip joints (distraction index [DI], dorsolateral subluxation [DLS] score, Norberg angle [NA], and extended-hip joint radiograph [EHR] score) and to derive the breeding values for these traits in dogs. ANIMALS-2,716 dogs of 17 breeds (1,551 dogs in which at least 1 hip joint trait was measured). PROCEDURES-The NA was measured, and an EHR score was assigned.

Magnetic resonance imaging findings in children with a first recognized seizure.

This study characterized structural abnormalities associated with onset of seizures in children, using magnetic resonance imaging and a standardized classification system in a large prospective cohort. Two hundred eighty-one children aged 6-14 years completed magnetic resonance imaging within 6 months of their first recognized seizure. Most examinations were performed with a standardized, dedicated seizure protocol; all were scored using a standard scoring system.

An artificial processivity clamp made with streptavidin facilitates oriented attachment of polymerase-DNA complexes to surfaces.

Single molecule analysis of individual enzymes can require oriented immobilization of the subject molecules on a detection surface. As part of a technology development project for single molecule DNA sequencing, we faced the multiple challenges of immobilizing both a DNA polymerase and its DNA template together in an active, stable complex capable of highly processive DNA synthesis on a nonstick surface. Here, we report the genetic modification of the archaeal DNA polymerase 9 degrees N in which two biotinylated peptide 'legs' are inserted at positions flanking the DNA-binding cleft.

Decreased brain volume in adults with childhood lead exposure.

Background: Although environmental lead exposure is associated with significant deficits in cognition, executive functions, social behaviors, and motor abilities, the neuroanatomical basis for these impairments remains poorly understood. In this study, we examined the relationship between childhood lead exposure and adult brain volume using magnetic resonance imaging (MRI). We also explored how volume changes correlate with historic neuropsychological assessments.

Interstitial deletion of 13q associated with polymicrogyria.

Interstitial deletion of the long arm of chromosome 13 is a rare condition characterized by multiple clinical findings. We report a male dizygotic twin with an interstitial deletion of 13q and failure to thrive, hypotonia, polymicrogyria, bilateral foci of retinoblastoma, hearing loss, bilateral inguinal hernias, submucous cleft palate, and dysmorphic features including a triangular shaped face, broad forehead, small chin, prominent eyes, downslanting palpebral fissures, and a downturned mouth. Chromosome analysis showed an interstitial deletion of chromosome 13 which was confirmed by fluorescence in situ hybridization analysis to include the Rb locus, but spare the 13q subtelomeric region.

Symptomatic spinal epidural collections after lumbar puncture in children.

Background And Purpose: Complications from lumbar puncture (LP) include headache; mild puncture-site pain; and, rarely, subdural, epidural, or subarachnoid hemorrhage. In infants, asymptomatic leakage of CSF documented with ultrasound is common. We report the MR imaging findings and clinical course of 25 symptomatic patients with spinal epidural collections after LP.

The association of MRI findings and neuropsychological functioning after the first recognized seizure.

Purpose: To explore relationships between MRI abnormalities of the brain and neuropsychological functioning in children who were evaluated following their first recognized seizure.

Methods: Subjects were children aged 6 to 14 years with a first recognized seizure within the past 3 months who participated in a larger prospective study of child adaptation. The 249 children with neuropsychological testing and neuroimaging were studied.

Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease.

We present a case of infantile-onset Alexander disease (AD) with a novel glial fibrillary acidic protein mutation but without clinical evidence of neurologic deterioration. Brain MRI studies showed typical AD findings and increasing size of frontal cavitations. Serial proton MR spectroscopy demonstrated high levels of myo-inositol and lactic acid and decreasing levels of N-acetylaspartate.

The impact of early childhood lead exposure on brain organization: a functional magnetic resonance imaging study of language function.

Objectives: The purpose of this work was to assess the long-term impact of childhood lead exposure on the neurosubstrate of language function and brain organization.

Methods: Young adults from the Cincinnati Lead Study were recruited to undergo functional magnetic resonance image scanning while performing a verb generation task. These subjects have been followed from birth through early childhood with extensive documentation of lead exposure, neuropsychology, and behavior.

Magnetic resonance imaging (MRI) and electroencephalographic (EEG) findings in a cohort of normal children with newly diagnosed seizures.

In the initial assessment of children with new-onset seizures, the suggestion that electroencephalography (EEG) should be standard and that magnetic resonance imaging (MRI) should be optional has been questioned. The purposes of this study were to (1) describe the frequency of EEG and MRI abnormalities and (2) explore relationships between MRI and EEG findings to determine their relevance in the assessment of children with new-onset seizures who are otherwise developing normally. As part of an ongoing, prospective study of children with new-onset seizures, we studied 181 children (90 girls and 91 boys).

Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings.

We report a case of bilateral partial absence of the posterior semicircular canals (with normal lateral semicircular canals) imaged with CT in a patient with Alagille syndrome. Similar histologic findings have been reported in the pathology literature. This association has been previously reported only for Waardenburg syndrome in the imaging literature.

Brain MRI and proton MRS findings in infants and children with respiratory chain defects.

Objective: The aim of this study is to describe neuroimaging patterns in children with respiratory chain (RC) defects using magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) and to assess their role in the diagnostic evaluation.

Method: Neuroimaging studies of 49 children (newborn to 15 years old) with biochemical evidence of RC defect were reviewed. Patients were divided in 3 groups ("definite" = 24, "probable" = 14, "possible" = 11) according to Modified Adult Criteria for the diagnosis of RC defect.

Supratentorial tuber location and autism in tuberous sclerosis complex.

The high rate of autism in tuberous sclerosis complex provides an opportunity to study the pathogenesis of autism. This study investigated the relationship between a DSM-IV diagnosis of autism and tuber location in a sample of 50 individuals with tuberous sclerosis complex. Chi-square analyses revealed no differences between individuals with autism (n = 15) and those without autism (n = 35) on the occurrence of tubers in the right or left frontal, occipital, parietal, or temporal regions.

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.

An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has recently been described. Essential in the recognition of this disorder is the absence of creatine on proton magnetic resonance spectroscopy (MRS) examination. A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS.

Methylsulfonylmethane observed by in vivo proton magnetic resonance spectroscopy in a 5-year-old child with developmental disorder: effects of dietary supplementation.

Proton magnetic resonance spectroscopy (MRS) revealed a distinct resonance at 3.15 ppm in the brain of a 5-year-old male diagnosed with autism. The resonance assignment is attributable to ingestion of methylsulfonylmethane (MSM) as a dietary supplement.