M 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)
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)
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)
The purpose of this study was to quantify how changing the amount of radiation used to perform routine head CT examinations (CTDIvol) affects visibility of key anatomical structures. Eight routine noncontrast head CT exams were selected from six CT scanners, each of which had a different CTDIvol setting (60 to 75 mGy). All exams were normal and two slices(More)
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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