Biomaterial Database

A rare case of cerebrotendinous xanthomatosis with typical clinical & radiological features. 2022

Ananya Sengupta, and Sanghamitra Laskar

Department of Neurology, Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi 110 029, India.

UI	MeSH Term	Description	Entries
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D019294	Xanthomatosis, Cerebrotendinous	An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.	Van Bogaert-Scherer-Epstein Disease,Cerebral Cholesterinosis,Cerebrotendinous Xanthomatosis,Bogaert-Scherer-Epstein Disease, Van,Cerebral Cholesterinoses,Cerebrotendinous Xanthomatoses,Disease, Van Bogaert-Scherer-Epstein,Van Bogaert Scherer Epstein Disease,Xanthomatoses, Cerebrotendinous