Cerebrotendinous xanthomatosis (CTX) is an uncommon autosomal recessive
disease caused by
deficiency of 27-
sterol-
hydroxylase that results in an accumulation of
cholestanol in the
central nervous system,
eyes,
tendons, and
blood vessels. We
report a 22-year-old
woman with a
history of
cataract surgery at the age of 14,
cholecystectomy due to
cholelithiasis at the age of 17 and chronic
diarrhea,
who presented with a six months period of
gait instability and frequent
falls.
Physical examination revealed a bilateral pyramidal and
cerebellar syndrome, with no visible
tendon xanthomas. Cerebral
magnetic resonance imaging showed an increase of the signal intensity on the T2-weighted images in periventricular cerebral
white matter, dentate nuclei and
spinal cord. With a high suspicion of CXT, a genetic study was conducted identifying a pathogenic variant in the CYP27A1
gene. There is considerable variation in clinical characteristics and
age of onset of this
disease, including absence of
tendon xanthomas, delaying the
diagnosis. Early recognition and chronic
chenodeoxycholic acid therapy can improve outcome and
quality of life.