This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Cerebrotendinous xanthomatosis (CTX) is a treatable, autosomal recessive, lipid storage disorder characterized by diarrhea and cataracts, usually appearing in the first decade of life, followed by growth of tendon xanthomas and progressive neurologic disability.1 The typical brain findings include MRI signal abnormalities mainly in the globus pallidus and dentate nuclei.2
The disease is caused by deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in impaired primary bile acid synthesis, decreased chenodeoxycholic acid production, and cholestanol accumulation in virtually every tissue.3 The main blood chemistry abnormalities include high plasma levels of cholestanol with normal to low cholesterol. Different mutations of the CYP27A1 gene have been described.4 Early diagnosis is crucial as treatment with chenodeoxycholic acid (CDCA) may improve symptoms.5
Here we report the cases of two Argentinian siblings with a novel mutation of the CYP27A1 gene associated with clinical variants, including absence of tendon xanthomas.
Case reports.
Case 1 (male, 17 years).
The first clinical manifestation was chronic diarrhea from birth and growth retardation. Episodes of febrile seizures occurred at 1 and 3 years, followed by photosensitive epileptic syndrome. Posterior subcapsular cataracts were found at 3 years and removed at 8 years of age. Mild mental retardation, attention deficit, and hyperactivity were reported at school age. At 17 …
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Disputes & Debates: Rapid online correspondence
NOTE: All authors' disclosures must be entered and current in our database before comments can be posted. Enter and update disclosures at http://submit.neurology.org. Exception: replies to comments concerning an article you originally authored do not require updated disclosures.
- Stay timely. Submit only on articles published within the last 8 weeks.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- 200 words maximum.
- 5 references maximum. Reference 1 must be the article on which you are commenting.
- 5 authors maximum. Exception: replies can include all original authors of the article.
- Submitted comments are subject to editing and editor review prior to posting.