Cerebrotendinous Xanthomatosis (CTX): A Report of 3 Cases
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Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, metabolic disease of bile acid synthesis. CYP27A1 gene mutations result in a faulty sterol 27-hydroxylase, leading to derangements in lipid metabolism with accumulation of cholestanol and cholesterol in the form of xanthomas throughout the CNS, eyes and tendons.

Incidence is as high as 5 per 100,000 individuals of European ancestry with approximately 300 reported cases worldwide. While individuals often develop signs and symptoms early in life, most are diagnosed during the fourth decade, when their disease has progressed to an advanced state. Three cases of CTX with similar clinical symptoms in order to emphasize the importance of early detection are reported.

- A female in her 30’s, first experienced symptoms with an early onset of frequent diarrhea in infancy. She developed cataracts by age 6. At age 14, she was diagnosed with CTX which was confirmed with genetic testing. Chenodiol therapy was initiated at diagnosis. Tendon xanthomas required surgical debulking by 17. She has had xanthomas of the Achilles, elbow, plantar foot, extensor tendons of fingers and toes. Most recent MRI of the brain showed mild increased T2 signal within the dentate nucleus, which can be seen in CTX. She has reported significant cognitive delay.

- A female in her 40’s, who has two family members with CTX, struggled with irregular bowel movements from any early age. with cataracts at age 11 and was diagnosed at age 27. Diagnosis was confirmed by genetic testing with prompt initiation of chenodiol therapy. She is followed by neurology and most recent imaging showed cerebellar lesions, however, patient has not clinically expressed any neurologic deficits. She has no known cardiovascular involvement.

- A female in her 50’s, who has two formally diagnosed family members with CTX, had loose stools from childhood. She was diagnosed with cataracts at age 20 and with CTX at 38, confirmed by genetic testing. She started chenodiol at time of diagnosis but had a 10-year interruption in therapy. She has developed significant neurologic involvement that has progressively lead to the patient becoming non ambulatory and wheelchair bound. Patient has severe cognitive decline and visual impairment.

Patients with CTX often present with diarrhea, cataracts, tendon xanthomas, and progressive neurologic sequelae. Cataracts are an early sign, commonly appearing in childhood. Chenodiol (chenodeoxycholic acid / CDCA) reduces CYP7A transcription thus decreasing cholestanol synthesis. Studies have shown chenodiol improves symptoms and reduces progression of the disease. Reversal of neurologic damage and resolution of the xanthomas has been reported, especially when treatment is started early in the disease course.

Source: https://www.jaadcasereports.org/article/S2352-5126(20)30741-4/fulltext?rss=yes