Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0264733 (
ventricular dilatation
)
2,163
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
This report describes a case of
cerebrotendinous xanthomatosis
(
CTX
) accompanied by clinical manifestations of parkinsonism, including oily and masked face, marked akinesia, muscle rigidity and resting hand tremor. Magnetic resonance imaging (MRI) of the brain showed high intensity areas on T2 weighted imaging, and slightly low intensity areas on T1 weighted imaging in the right globus pallidus and the left putamen. Cerebral cortical atrophy with slight
ventricular dilatation
and cerebellar atrophy were present as well. This is a case report of
CTX
which manifested parkinsonism. Parkinsonism may not be a coincidental manifestation in
CTX
, but rather represent a symptom of the same underlying diathesis.
...
PMID:Parkinsonism in cerebrotendinous xanthomatosis. 186 93
