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Saturday, 04 January 2025

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Editor

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Assuming cerebrotendinous is required, and xanthomatosis is required, the following 10 results were found.

  1. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/articles/146

    possible when specific combinations of symptoms are present (Mignarri et al., 2014). Suspicion Index in Cerebrotendinous Xanthomatosis (CTX): CategoryClinical FeaturesScore Neurological Symptoms Progressive ataxia, cognitive decline, seizures,...

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  2. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/component/communityquiz/quiz/cerebrotendinous-xanthomatosis-ctx?catid=18&Itemid=101

    • Type: Quiz
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    • Category: Clinical Topics

  3. Cerebrotendinous Xanthomatosishttps://cnke.org/topics/cerebrotendinous-xanthomatosis

    • Type: Tag
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  4. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    in later stages due to progressive basal ganglia involvement. ATX–CYP27A1 (CYP27A1 Mutation) Found in Cerebrotendinous Xanthomatosis (CTX), a metabolic disorder causing parkinsonism, ataxia, and tendon xanthomas. Mitochondrial Disorders POLG (DNA...

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  5. Infantile Spasms Syndromehttps://cnke.org/articles/269

    of infantile spasms: a pilot, randomized controlled trial. Neurol India 66:385–390 118. Larson A et al., (2017) Cerebrotendinous xanthomatosis presenting with infantile spasms and intellectual disability. JIMD Rep 35:1–5 62. Lee HH, Hur YJ (2016)...

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  6. Biochemical investigations in Bloodhttps://cnke.org/articles/13

    be associated with carnitine depletion) Cholestanol Learning disability, juvenile cataracts, limb pains ↑ in cerebrotendinous xanthomatosis Cholesterol Developmental delay with retinopathy and sensorineural deafness. Skeletal dysplasias. Ataxia...

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  7. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Brain MRI: Caudate and putamen necrosis. Mutation in SLC19A3 gene. Treatment: Biotin (5–10 mg/kg/day). 5. Cerebrotendinous Xanthomatosis Presentation: Central and peripheral degeneration, juvenile cataracts. Key Investigations: Plasma cholestanol ↑....

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  8. CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315

    rosenthal fibers characteristic of biopsy. Fatal infantile. Juvenile: bulbar signs, less retardation Cerebrotendinous xanthomatosis AR Abnormal accumulation of cholesterol Late childhood to adolescence Xanthomas Mental deterioration Cataracts...

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  9. Lysosomal Storage Disordershttps://cnke.org/articles/477

    Farber disease NCL (Neuronal Ceroid Lipofuscinoses) Infantile Jansky–Bielschowsky disease Batten disease Other Cerebrotendinous xanthomatosis Lysosomal acid lipase deficiency/Wolman disease Sea-blue histiocytosis

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  10. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    Treatments ATX–TTP (Ataxia with vitamin E deficiency) α-Tocopherol (vitamin E) supplementation. ATX–CYP27A1 (Cerebrotendinous Xanthomatosis) Chenodeoxycholic acid, ursodeoxycholic acid, cholic acid, and taurocholic acid. ATX–PHYH (Refsum’s disease) Diet...

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