The Marinesco-Sjoegren syndrome examined by computed tomography, magnetic resonance, and sup 18 F-2-fluoro-2-deoxy-D-glucose and positron emission tomography
- Univ. of Michigan, Ann Arbor (USA)
The Marinesco-Sjoegren syndrome is an autosomal recessive degenerative disorder characterized by congenital cataracts, cerebellar ataxia, spasticity, mental deficiency, and skeletal abnormalities. We studied two adult siblings with Marinesco-Sjoegren syndrome using anatomic and metabolic brain imaging techniques to characterize the pattern and nature of abnormalities in the brain. Computed tomographic and magnetic resonance imaging showed diffuse brain atrophy of mild to moderate degree, involving primarily the white matter of the cerebrum, cerebellum, brain stem, and cervical spinal cord. The pattern of atrophy resembled that seen in diffuse leukoencephalopathies. Measurements of local cerebral glucose metabolic rates with positron emission tomography revealed no statistically significant differences from normal control subjects in most regions, but metabolic rate was decreased in the thalamus in one patient. The findings support a diffuse white matter disorder in Marinesco-Sjoegren syndrome.Aut
- OSTI ID:
- 6070595
- Journal Information:
- Archives of Neurology; (USA), Journal Name: Archives of Neurology; (USA) Vol. 47:11; ISSN 0003-9942; ISSN ARNEA
- Country of Publication:
- United States
- Language:
- English
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62 RADIOLOGY AND NUCLEAR MEDICINE
ALDEHYDES
BETA DECAY RADIOISOTOPES
BETA-PLUS DECAY RADIOISOTOPES
BODY
BRAIN
CARBOHYDRATES
CENTRAL NERVOUS SYSTEM
COMPUTERIZED TOMOGRAPHY
DIAGNOSIS
DIAGNOSTIC TECHNIQUES
DISEASES
FLUORINE 18
FLUORINE ISOTOPES
GLUCOSE
HEXOSES
HOURS LIVING RADIOISOTOPES
IMAGE PROCESSING
ISOMERIC TRANSITION ISOTOPES
ISOTOPES
LIGHT NUCLEI
METABOLISM
MONOSACCHARIDES
NERVOUS SYSTEM
NERVOUS SYSTEM DISEASES
NMR IMAGING
NUCLEI
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
ORGANS
PATIENTS
PROCESSING
RADIOISOTOPES
SACCHARIDES
TOMOGRAPHY