Fabry heterozygote mimicking multiple sclerosis
نویسندگان
چکیده
منابع مشابه
Adult-type metachromatic leukodystrophy mimicking multiple sclerosis.
recessive lysosomal storage disease caused by a deficiency of arylsulphatase A (ASA). It is characterized by accumulation of sulphatide in the white matter in the central nervous system and peripheral nerves1. The disease is divided in four subtypes, according to onset, severity and progression of the disease: late infantile (before age 4), early juvenile (age 4 to 6), late juvenile (age 6 to 1...
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OBJECTIVE Fabry disease is a rare X-linked inherited lysosomal storage disorder affecting multiple organ systems. It includes central nervous system involvement via micro- and macroangiopathic cerebral changes. Due to its clinical symptoms and frequent MRI lesions, Fabry disease is commonly misdiagnosed as multiple sclerosis. We present an overview of cases from Fabry centres in Germany initial...
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Fabry disease is a rare X-linked inborn error of the glycosphingolipid metabolism caused by deficient activity of lysosomal enzyme alpha-galactosidase A. It is characterized by progressive multisystemic involvement that leads to premature death due to major organ failure, particularly the kidneys and heart. It appears that the disease is underdiagnosed in patients with end-stage renal disease. ...
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The differential diagnosis of patients with acute unilateral vestibulopathy rests in the proper clinical assessment and use of selected tests of vestibular function. In case of a central nervous system lesion as in Multiple Sclerosis, the case shown here, it is of particular importance to observe congruency between severity of symptoms and signs and, of topographic diagnosis. We report a case o...
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A 54-year-old man died following a 20-year course of intermittent neurologic symptoms. He carried a diagnosis of multiple sclerosis, with most severe involvement thought to be in the spinal cord. At autopsy, two neurenteric (enterogenous) cysts were found to indent the anterior spinal cord -- at the T4 and T11 cord levels. Partial diplomyelia was present in the lumbo-sacral cord. These findings...
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2017
ISSN: 1757-790X
DOI: 10.1136/bcr-2017-220274