Cerebrotendinous xanthomatosis, MRI scan C018 / 0504

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Cerebrotendinous xanthomatosis, MRI scan C018 / 0504

Cerebrotendinous xanthomatosis. Coloured magnetic resonance imaging (MRI) scan of the brain of a 46 year old patient with cerebrotendinous xanthomatosis (CTX). CTX is a rare inherited disorder that causes the cholesterol deposits in the brain and tendons. The deposits in the brain cause degeneration of the tissue and disrupt nerve signalling leading to dementia. This patient is showing atrophy of the cerebral cortex (highly folded area of brain) and cerebellum (bottom right of brain)

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Media ID 9237673

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Atrophied Atrophy Cerebellum Cholesterol Cortex Diagnosis Diagnostic Forties Forty Six Hereditary Inherited Middle Aged Mri Scan Neurodegeneration Neurodegenerative Profile Sagittal Scanner Abnormal Brain Condition Neurological Neurology Recessive Unhealthy

EDITORS COMMENTS
This print showcases a coloured magnetic resonance imaging (MRI) scan of the brain of a 46-year-old patient diagnosed with cerebrotendinous xanthomatosis (CTX). CTX is an exceptionally rare hereditary disorder that triggers the accumulation of cholesterol deposits in both the brain and tendons. These deposits within the brain lead to tissue degeneration and disrupt nerve signaling, ultimately resulting in dementia. The image vividly displays significant atrophy in two crucial regions: the cerebral cortex, which is responsible for complex cognitive functions, and the cerebellum located on the bottom right side of the brain. The highly folded nature of these areas indicates severe damage caused by this neurodegenerative disease. Cerebrotendinous xanthomatosis primarily affects adults and manifests as an abnormal fat storage disorder due to impaired metabolism. This condition leads to leukodystrophy, a type of lipid storage disorder characterized by abnormal fatty substances accumulating within cells. As we delve into this thought-provoking image, it becomes apparent how vital diagnostic tools like MRI scans are for understanding complex neurological conditions such as CTX. By providing detailed insights into structural abnormalities within our bodies, these scans play a critical role in guiding medical professionals towards accurate diagnoses. This photograph serves as a powerful reminder not only of the devastating impact that genetic disorders can have on individuals but also highlights ongoing scientific advancements aimed at unraveling their mysteries.

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