Cerebrotendinous Xanthomatosis
OBJECTIVES
To review the main clinical features of cerebrotendinous xanthomatosis (CTX) in a patient free of neurological manifestations.
To review some diagnostic pitfalls in the diagnosis of CTX.
To review ancillary diagnostic criteria for CTX.
To discuss management strategies of CTX.
VIGNETTE
A 53-year-old hypertensive woman had a history of multiple “lumps” involving her hands, knees, feet, and legs since age 9 and had “more than 400 surgeries” to remove these lesions. She also had three heart attacks and had a coronary artery bypass graft (CABG) 7 years earlier. She had no history of chronic diarrhea and had no neurologic complaints except for occasional blurry vision. She had three living brothers, eight living sisters, and two daughters. There was a history of heart disease in one brother (deceased). Two brothers had similar tender xanthomas.
On examination, her blood pressure was 138/72 mm Hg. She had bilateral carotid bruits and a grade II/VI systolic ejection murmur. There was a large pterygium nasally extending very close to the visual axis of the right eye and a dense arcus of both corneas. On funduscopic examination, the appearance of the discs, maculae, vessels, and periphery was normal. She had mild bilateral cataracts.
