Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder that occurs due to defective bile acid biosynthesis, causing unusual cholesterol and cholestanol deposition in multiple soft tissues. It manifested by various neurological non-neurological symptoms. The characteristic imaging features clinical symptoms can help make an early diagnosis induce timely treatment prevent sequelae....

Cerebrotendinous xanthomatosis is a rare autosomal recessive disease that involves multiple organs, including the peripheral nervous system. The present study is the first to report the ultrasonographic findings of peripheral nerves in a patient with cerebrotendinous xanthomatosis. The patient presented with bilateral Achilles tendon enlargement and foot hypesthesia. Sonographic examination rev...

1 Bhattacharya AK, Lin DS, Connor WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover and tissue deposition. J Lipid Res 2007; 48: 185–92 2 Cali JJ, Russell DW. Characterization of human sterol 27 hydroxylase: a mitochondrial cytochrome P-450 that catalyzes multiple oxidation reactions in bile acid biosynthesis. J Biol Chem 1991; 266: 7774–8 3 Cruysb...

Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).

Cerebrotendinous xanthomatosis is a rare autosomal recessive hereditary disease that is caused by a mutation in the gene encoding the mitochondrial enzyme sterol 27hydroxylase (CYP27). The CYP27 gene is located on chromosome 2q35-qter and is responsible for the conversion of cholesterol into cholic and chenodeoxycholic acid. Cerebrotendinous xanthomatosis results in increased levels of serum ch...

To examine the defect in side-cbain oxidation during the formation of bile acids in cerebrotendinous xanthomatosis, we measured in vitro hepatic microsomal hydroxylations at C-12 and C-25 and mitochondrial hydroxylation at C-26 and related them to the pool size and synthesis rates of cholic acid and chenodeoxycholic acid as determined by the isotope dilution technique. Hepatic microsomes and mi...

A 41-year-old woman had progressive shortness of breath. Cerebrotendinous xanthomatosis was diagnosed 4 years before. An open-lung biopsy showed the simultaneous presence of cerebrotendinous xanthomatosis and pulmonary lymphangioleiomyomatosis. This is perhaps the first time the coincidental occurrence of these two diseases is described.

1 Bhattacharya AK, Lin DS, Connor WE. Cholestanol metabolism in patients with cerebrotendinous xanthomatosis: absorption, turnover and tissue deposition. J Lipid Res 2007; 48: 185–92 2 Cali JJ, Russell DW. Characterization of human sterol 27 hydroxylase: a mitochondrial cytochrome P-450 that catalyzes multiple oxidation reactions in bile acid biosynthesis. J Biol Chem 1991; 266: 7774–8 3 Cruysb...

1. Forsius H, Arentz-Grastvedt B, Eriksson AW. Juvenile cataract with autosomal recessive inheritance: a study from the Aland Islands, Finland. Acta Ophthalmol (Copenh). 1992;70: 26-32. 2. Verrips A, van Engelen BG, Wevers RA, et al. Presence of diarrhea and absence of tendon xanthomas in patients with cerebrotendinous xanthomatosis. Arch Neurol. 2000;57:520-524. 3. Lorincz MT, Rainier S, Thoma...

BACKGROUND Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX). CASE PRESENTATION A 36-year-old female with typical CTX clinical manifestation had Spindle-shaped lipid crystal clefts in xanthomas and "onion-like demye...