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Am J Med Genet A. 2017 Aug;173(8):2275-2279. doi: 10.1002/ajmg.a.38314. Epub 2017 Jun 7.

Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment.

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Department of Pediatrics,, Division of Genetics, University of California, San Francisco, California.
Department of Pediatrics, Division of Medical Genetics, Children Hospital of Pittsburgh, Pittsburgh, Pennsylvania.
Department of Neurology, UCSF, San Francisco, California.
The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York City, New York.
Department of Dermatology, UCSF, San Francisco, California.
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Departments of Medicine and Pediatrics, UCSF, San Francisco, California.


Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood. The condition is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. We present a 36-year-old male of Han ethnicity who developed xanthomas of his Achilles tendons and suffered neurocognitive declines and gait deterioration in his second decade. The diagnosis of CTX was confirmed by marked elevation of the serum cholestanol level. Sequencing of CYP27A1 showed a paternally inherited splice mutation, c.446 + 1G>T, and a maternally inherited nonsense mutation, c.808C>T, predicting p.(Arg270*). Despite the advanced disease in this patient, treatment with CDCA reduced the xanthoma size and improved his cognition and strength, and the patient made significant gains in his ambulation and coordination. We report this case to illustrate the potential benefits of therapy in patients with CTX who have advanced disease at the time of diagnosis.


CYP27A1; bile acid metabolism; cerebrotendinous xanthomatosis; inborn error of metabolism; leukodystrophy

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