Spinal cerebrotendinous xanthomatosis: A case report and literature review.

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State: Public
Version: author
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_94C28276E9CC
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Journal
Molecular genetics and metabolism reports
Author(s)
Atallah I., Millán D.S., Benoît W., Campos-Xavier B., Superti-Furga A., Tran C.
ISSN
2214-4269 (Print)
ISSN-L
2214-4269
Publication state
Published
Issued date
03/2021
Peer-reviewed
Oui
Volume
26
Pages
100719
Language
english
Notes
Publication types: Case Reports
Publication Status: epublish
Abstract
Classic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of CYP27A1 wich leads to cholestanol accumulation in the central nervous system, eyes and tendons. Less commonly, the disease can present in young adults as spastic paraparesis in the absence of xanthomas.
We report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirmed the diagnosis of CTX. Chenodeoxycholic acid (CDCA) treatment was introduced with remission of diarrhea. Unfortunately, the treatment had to be discontinued several times and the patient developed psychosis and an severe ataxospastic gait. Spinal MRI revealed new linear hyperintensities of the corticospinal and gracile tracts. Thirty-three spinal CTX patients were identified by searching in Pubmed, EMBASE™ and Web of Science databases. All patients presented pyramidal signs and 48% had dorsal column signs. Juvenile cataracts were described in 78% of patients, chronic diarrhea in 65%, and tendon xanthomas in 31%. Disease improvement or stabilization with chenodeoxycholic acid was observed in 69% of patients. A higher prevalence of the Arg395Cys allele was observed in patients with spinal CTX as compared to CTX in general (ᵡ <sup>2</sup> ; p < 0.00001).
The diagnosis of spinal CTX can be easily missed or delayed in absence of xanthomas. There is a higher prevalence of the Arg395Cys allele in spinal CTX as compared to classic childhood-onset CTX. CDCA treatment seems to stabilize or improve clinical symptoms in most patients. However, as seen in our patient and in two previously reported cases, sudden interruption of CDCA may lead to irreversible neurological complications.
Keywords
BBB, Blood-brain-barrier, CA, Cholic acid, CDCA, Chenodeoxycholic acid, CTX, CTX, Cerebrotendinous xanthomatosis, Cerebrotendinous xanthomatosis, Chenodeoxycholic acid, Clinical, ENMG, Electroneuromyography, Genetic, IQR, Interquartile range, MRI, Magnetic resonance imaging, Medullar, Spinal
Pubmed
Web of science
Open Access
Yes
Create date
16/03/2021 10:44
Last modification date
27/03/2021 7:32
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