Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review

Abstract

Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomalrecessive disease that occurs as result of mutation in the CYP27A1 gene. Theclinical presentation of the disease is quite wide. We planned to briefyreview the literature with this case diagnosed as a CTX. Case A 50-year-old male patient was admitted to the neurologyoutpatient clinic complaining of progressive worsening of his walking, andswelling in his legs. Mild mental retardation was detected in our patient. Inaddition to the visual impairment that would be explained by cataracts, he hadxanthomas in both lower extremities. Signs related to bilateral cataractsurgery and intraocular lens were detected during an eye examination. Therewere no abnormal fndings in electroencephalography, electroneuromyography, andbrain magnetic resonance imaging of the patient, whom we learned that hervisual impairment started in childhood. The Mignarri Suscipion Index index wascalculated as 275. A genetic examination was requested and the CYP27A1 gene wasp.A216P (c.The mutation 646G>C) (CM044609) was detected as homozygous. Conclusion Due to the lowawareness of CTX and the variability of its clinical fndings, its diagnosis maybe delayed for years, as in our patient. When diagnosed, most patients may havesevere, often irreversible neurological damage. With the early recognition ofthe CTX and the start of treatment, patients can have a chance to quality life. Keywords Cerebrotendinous xanthomatosis, Xanthomatosis, Cholestanol, Osteoporosis, Juvenile bilateral cataract, CYP27A1 gene