G B Schaefer

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We reviewed the neuroimaging studies of 40 patients with classic Sotos syndrome. The studies consisted of CT scans only in 4 patients and one or more MRI scans in 36 patients. The diagnosis of Sotos syndrome was made using well-established clinical criteria. The neuroimaging studies of each patient were evaluated subjectively by visual inspection and the(More)
Using a simple image analysis system, we have established normative data obtained from magnetic resonance imaging (MRI) scans for the relative size and growth of the major structural domains of the brain. Midsagittal scans of the head were analyzed in 95 subjects aged 0 to 20 years. Only scans with no demonstrable structural abnormalities of the brain were(More)
We present the findings from magnetic resonance imaging, computed tomographic scan, and single photon emission computed tomography of the brain in a 2-year-old girl with Alexander's disease. Computed tomographic scans showed prominent low-density white matter throughout the cerebral hemispheres. Magnetic resonance imaging showed increased T2 signal from the(More)
There are conflicting reports on the relationship between cerebellar vermal lobule hypoplasia and autism. Using quantitative magnetic resonance image analysis, we measured the cerebellar vermis in 125 normal individuals with a broad age range and 102 patients with a variety of neurogenetic abnormalities. We conclude that hypoplasia of cerebellar vermal(More)
The size of the corpus callosum was assessed visually and by computer-assisted image analysis in a series of 445 consecutive magnetic resonance imaging (MRI) scans in children under 17 years of age. Fifty individuals were subjectively identified with small corpora callosa on visual inspection of the MRI scans. Seven patients had true hypoplasia of the(More)
We have established a normative data set for the relative size of the structures of the midline posterior fossa from birth to 90 years old. Data were obtained from morphometric analysis of midsagittal magnetic resonance imaging scans of the brain utilizing a simple image analysis system. There are several significant changes in the size of these structures(More)
OBJECTIVE Neuropathologic evaluation was performed on an infant with fetal alcohol effects. DESIGN Coronal brain sections and representative tissue blocks stained with hematoxylin-eosin, silver stain, and immunocytochemical stains for hypothalamic and pituitary hormones were evaluated for neuropathologic abnormalities. PATIENT A 2.5-month-old American(More)
Recent studies have shown that the persistence of the cavum septi pellucidi beyond the neonatal period is a marker of cerebral dysgenesis. It has been suggested that the finding of a persistent cavum vergae is also a marker of disturbed brain development. In order to investigate this hypothesis we reviewed 161 brain magnetic resonance imaging scans from(More)
A five-year-old white male presented with a history of progressive loss of vision that was subsequently followed by progressive corticospinal dysfunction. Evaluation revealed the presence of leukodystrophy which was confirmed by a deficiency of the enzyme, galactosylceramide beta-galactosidase. We present the clinical, computed tomographic, and magnetic(More)
Usher syndrome is a group of genetic disorders consisting of congenital sensorineural hearing loss and retinitis pigmentosa of variable onset and severity depending on the genetic type. It was suggested that the psychosis of Usher syndrome might be secondary to a metabolic degeneration involving the brain more diffusely. There have been reports of focal and(More)