Maria Gisele Matheus

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Our objective was to determine the brain magnetic resonance imaging (MRI) abnormalities in a selected group of patients with mucopolysaccharidosis (MPS) types I and II who had only mild clinical manifestations. We retrospectively assessed MRI brain studies in 18 patients with MPS (type I: 6 and type II: 12). We evaluated abnormal signal intensity in the(More)
Thalami and midbrain arterial supply arises from many perforating blood vessels with a complex distribution for which many variations have been described. One rare variation, named the "artery of Percheron," is a solitary arterial trunk that arises from one of the proximal segments of a posterior cerebral artery and supplies the paramedian thalami and the(More)
BACKGROUND AND PURPOSE The GliaSite system delivers local, high radiation after brain tumor resection. We describe the imaging appearance of the device and the changes it causes. METHODS Eight patients with brain tumors were treated with this system. After surgery, all underwent MR imaging, and one underwent CT. Five were examined 1 month after(More)
X-linked monocarboxylate transporter 8 (MCT8) deficiency results from a loss-of-function mutation in the monocarboxylate transporter 8 gene, located on chromosome Xq13.2 (Allan-Herndon-Dudley syndrome). Affected boys present early in life with neurodevelopment delays but have pleasant dispositions and commonly have elevated serum triiodothyronine. They also(More)
Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The authors describe 2 unrelated Honduran(More)
Disruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with(More)
SUMMARY Formation of de novo intracranial aneurysms is rare. Their etiology is not known, but they are seen in patients with inherited collagen disorders, polycystic kidney disease, and familial history of aneurysms. Most de novo intracranial aneurysms are found 3-20 years after diagnosis of the initial aneurysm. We report the imaging findings in a(More)
Subdural hematomas (SDHs) comprise a significant percentage of missed intracranial hemorrhage on axial brain CT. SDH detection rates could be improved with the addition of reformatted images. Though performed at some centers, the potential additional diagnostic sensitivity of reformatted images has not yet been investigated. The purpose of our study is to(More)
A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is the same for all affected members.
Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de(More)
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