Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging
| Autor: | Gregory Helsen, Jonathan Baets, Tine Deconinck, Harald De Cauwer, Katlijn Schotsmans, Luc van den Hauwe, Sarah Ceyssens |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male Cerebellum medicine.medical_specialty Pathology Caudate nucleus Substantia nigra Cerebrotendinous Xanthomatosis Parkinsonian Disorders Internal medicine Medicine Humans Tomography Emission-Computed Single-Photon business.industry Putamen Parkinsonism General Medicine Xanthomatosis Cerebrotendinous medicine.disease Dentate nucleus medicine.anatomical_structure Endocrinology Human medicine Neurology (clinical) Caudate Nucleus business Polyneuropathy Tropanes |
| Zdroj: | Acta neurologica Belgica |
| ISSN: | 2240-2993 0300-9009 |
| Popis: | Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurometabolic disease. Clinical symptoms are caused by increased deposition of cholestanol and cholesterol in various tissues. Progressive neurological symptoms are one of the principal manifestations. We report the case of a 44-year-old man who presented with asymmetric parkinsonism. In addition, there were mild bilateral pyramidal signs and a mild polyneuropathy. Brain MRI showed bilateral lesions in the dentate nucleus of the cerebellum and in the substantia nigra. Nuclear brain imaging using I-123-FP-CIT demonstrated an asymmetric reduced presynaptic dopaminergic function of the putamen and caudate nucleus, correlating well with his lateralized bradykinetic-rigid syndrome. CTX was diagnosed based on an increased plasma level of cholestanol, typical cerebellar brain lesions and the causative genetic mutation. CTX presenting with parkinsonism is considered rare and data on the neuroimaging of the dopaminergic deficit are limited. |
| Databáze: | OpenAIRE |
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