Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports

Maria Donata Di Taranto, Monica Gelzo, Carola Giacobbe, Marco Gentile, Gennaro Marotta, Silvia Savastano, Antonio Dello Russo, Giuliana Fortunato, G. Corso

Research output: Contribution to journalArticlepeer-review


Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive inborn error of bile acids synthesis and lipid accumulation caused by a deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1. Pathogenic variants in CYP27A1 cause elevated cholestanol levels in the body, which leads to a variable clinical presentation that often includes cataracts, intellectual disability, neurological features, tendon xanthomas, and chronic diarrhea. Herein we describe the cases of two unrelated adult CTX patients. Case 1 is a patient with neurological dysfunction, including moderate intellectual disability, cataract of right eye, and xanthomas; Case 2 is a patient with tendon xanthomas without neurological symptoms. Plasma sterols profile obtained from both cases showed higher levels of cholestanol and cholesterol biosynthetic precursors compared to unaffected subjects. Case 1 and Case 2 were homozygous for the c.1263 + 5G > T (p.Leu396Profs29X) and c.1435C > G (p.Arg479Gly) pathogenic variants, respectively, in the CYP27A1 gene. Interestingly, for the first time, Case 2 variant has been identified in a homozygous state. Our results highlight that the sterol profile and genetic analyses are essential to make the diagnosis of CTX and to exclude other dyslipidemias.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalMetabolic Brain Disease
Publication statusAccepted/In press - May 26 2016


  • Bile acids synthesis disorder
  • Cerebrotendinous xanthomatosis
  • Normocholesterolemic xanthomatosis
  • Sterol 27-hydroxylase

ASJC Scopus subject areas

  • Clinical Neurology
  • Biochemistry
  • Cellular and Molecular Neuroscience


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