Biomaterial Database

Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid in three siblings. 1994

W N Chang, and M Kuriyama, and E C Chee

Department of Neurology, Chang Gung Memorial Hospital, Kaohsiung, Hsien, Taiwan, R.O.C.

We investigated the therapeutic effect of chenodeoxycholic acid (750 mg/day) in three siblings with cerebrotendinous xanthomatosis. All three siblings had characteristic clinical manifestations, abnormal findings of magnetic resonance imaging and electroencephalogram, and high serum levels of cholestanol, cholesterol precursor (lathosterol), and plant sterols (campesterol, sitosterol). After treatment for one year, the serum levels of these sterols were decreased and some neurologic improvements in the pyramidal tract signs and cerebellar signs were noted. The electroencephalographic findings were markedly changed and normalized. However, mental defects and sensorimotor polyneuropathy still remained. No changes of neuroradiologic features could be detected. A longer period of treatment is required to estimate the overall effects of chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D001927	Brain Diseases	Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.	Intracranial Central Nervous System Disorders,Brain Disorders,CNS Disorders, Intracranial,Central Nervous System Disorders, Intracranial,Central Nervous System Intracranial Disorders,Encephalon Diseases,Encephalopathy,Intracranial CNS Disorders,Brain Disease,Brain Disorder,CNS Disorder, Intracranial,Encephalon Disease,Encephalopathies,Intracranial CNS Disorder
D002635	Chenodeoxycholic Acid	A bile acid, usually conjugated with either glycine or taurine. It acts as a detergent to solubilize fats for intestinal absorption and is reabsorbed by the small intestine. It is used as cholagogue, a choleretic laxative, and to prevent or dissolve gallstones.	Chenic Acid,Chenodeoxycholate,Chenodiol,Gallodesoxycholic Acid,Chenique Acid,Chenix,Chenofalk,Chenophalk,Henohol,Quenobilan,Quenocol,Sodium Chenodeoxycholate,Acid, Chenic,Acid, Chenique,Acid, Chenodeoxycholic,Acid, Gallodesoxycholic,Chenodeoxycholate, Sodium
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D013710	Tendons	Fibrous bands or cords of CONNECTIVE TISSUE at the ends of SKELETAL MUSCLE FIBERS that serve to attach the MUSCLES to bones and other structures.	Endotenon,Epotenon,Tendons, Para-Articular,Tendons, Paraarticular,Endotenons,Epotenons,Para-Articular Tendon,Para-Articular Tendons,Paraarticular Tendon,Paraarticular Tendons,Tendon,Tendon, Para-Articular,Tendon, Paraarticular,Tendons, Para Articular
D014973	Xanthomatosis	A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the SKIN; TENDONS; joints of KNEES and ELBOWS. Xanthomatosis is associated with disturbance of LIPID METABOLISM and formation of FOAM CELLS.	Xanthoma,Xanthomas,Xanthomatoses