부산대학교 도서관

Abstract Introduction Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease that occurs as result of mutation in the CYP27A1 gene. The clinical presentation of the disease is quite wide. We planned to briefly review the literature with this case diagnosed as a CTX. Case A 50-year-old male patient was admitted to the neurology outpatient clinic complaining of progressive worsening of his walking, and swelling in his legs. Mild mental retardation was detected in our patient. In addition to the visual impairment that would be explained by cataracts, he had xanthomas in both lower extremities. Signs related to bilateral cataract surgery and intraocular lens were detected during an eye examination. There were no abnormal findings in electroencephalography, electroneuromyography, and brain magnetic resonance imaging of the patient, whom we learned that her visual impairment started in childhood. The Mignarri Suscipion Index index was calculated as 275. A genetic examination was requested and the CYP27A1 gene was p.A216P (c.The mutation 646G>C) (CM044609) was detected as homozygous. Conclusion Due to the low awareness of CTX and the variability of its clinical findings, its diagnosis may be delayed for years, as in our patient. When diagnosed, most patients may have severe, often irreversible neurological damage. With the early recognition of the CTX and the start of treatment, patients can have a chance to quality life.