Cerebrotendinous xanthomatosis in two sisters: case reports and MR imaging.
Cerebrotendinous xanthomatosis is a rare inherited disorder of bile acid metabolism producing xanthomata and severe, progressive neurological deficits. In spite of the rarity of the condition it is important because it is treatable: the neurological deterioration can be halted and in some cases reversed.
Chakraverty
S
S
Department of Neuroradiology, Newcastle General Hospital, Newcastle upon Tyne.
Griffiths
P D
PD
Walls
T J
TJ
McAllister
V L
VL
D000328:Adult; D001927:Brain Diseases / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D013710:Tendons / Q000473:pathology*; D014973:Xanthomatosis / Q000235:genetics / Q000473:pathology*