Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline

A rare cytological diagnosis of tendon xanthomas leading to a final diagnosis of cerebrotendinous xanthomatosis in two female siblings presenting with bilateral ankle swellings and neurological decline.

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Bibliographic Details
Published in:Cytopathology (Oxford) 2018-10, Vol.29 (5), p.482-485
Main Authors: Nambirajan, A., Sashidharan, A., Garg, A., Dash, D., Bhatia, R., Sharma, M. C., Mathur, S. R.
Format: Article
Language:English
Subjects:
Adult
Ankle
Ankle - pathology
Cytodiagnosis
Diagnosis
Female
Humans
Mutation
Nervous System Diseases - complications
Siblings
Xanthoma
Xanthomatosis
Xanthomatosis, Cerebrotendinous - complications
Xanthomatosis, Cerebrotendinous - pathology
Young Adult
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Description
Summary:A rare cytological diagnosis of tendon xanthomas leading to a final diagnosis of cerebrotendinous xanthomatosis in two female siblings presenting with bilateral ankle swellings and neurological decline.
ISSN:0956-5507
1365-2303
DOI:10.1111/cyt.12573