U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Spinal cord xanthomatosis

MedGen UID:
1841578
•Concept ID:
C5826535
•
Disease or Syndrome
Synonym: Spinal cord xanthomas
 
HPO: HP:0034624

Definition

Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinal cord xanthomatosis

Professional guidelines

PubMed

Using fiber tractography and diffusion kurtosis imaging to evaluate neuroimaging changes in patients with cerebrotendinous xanthomatosis after stopping chenodeoxycholic acid treatment for three years.
Lee JJ, Chang CC, Chang WN
Biomed J 2022 Oct;45(5):814-820. Epub 2021 Sep 20 doi: 10.1016/j.bj.2021.09.003. PMID: 34543727Free PMC Article
Somatosensory and motor evoked potentials in the assessment of cerebrotendinous xanthomatosis before and after treatment with chenodeoxycholic acid: a preliminary study.
Restuccia D, Di Lazzaro V, Servidei S, Colosimo C, Tonali P
J Neurol Sci 1992 Oct;112(1-2):139-46. doi: 10.1016/0022-510x(92)90143-9. PMID: 1469424

Recent clinical studies

Etiology

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G
Acta Neurol Belg 2021 Apr;121(2):561-566. Epub 2019 Dec 24 doi: 10.1007/s13760-019-01267-4. PMID: 31875301
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Neuroradiologic aspects of Chester-Erdheim disease.
Caparros-Lefebvre D, Pruvo JP, Rémy M, Wallaert B, Petit H
AJNR Am J Neuroradiol 1995 Apr;16(4):735-40. PMID: 7611030Free PMC Article
Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family.
Philippart M, Van Bogaert L
Arch Neurol 1969 Dec;21(6):603-10. doi: 10.1001/archneur.1969.00480180059004. PMID: 5355255

Diagnosis

Xanthogranulomatous osteomyelitis of the cervical spine.
Perera A, Rus M, Thom M, Critchley G
Br J Neurosurg 2024 Oct;38(5):1158-1162. Epub 2022 Jun 13 doi: 10.1080/02688697.2022.2086967. PMID: 35695311
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Neuroradiologic aspects of Chester-Erdheim disease.
Caparros-Lefebvre D, Pruvo JP, Rémy M, Wallaert B, Petit H
AJNR Am J Neuroradiol 1995 Apr;16(4):735-40. PMID: 7611030Free PMC Article
Biochemical abnormalities in cerebrotendinous xanthomatosis.
Salen G, Shefer S, Berginer V
Dev Neurosci 1991;13(4-5):363-70. doi: 10.1159/000112186. PMID: 1817043
Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis.
Argov Z, Soffer D, Eisenberg S, Zimmerman Y
Ann Neurol 1986 Jul;20(1):89-91. doi: 10.1002/ana.410200115. PMID: 3017187

Therapy

Teaching NeuroImages: Spinal xanthomatosis: A misdiagnosed, treatable cause of progressive myelopathy.
Valencia-Sanchez C, Wingerchuk DM, Dhamija R
Neurology 2020 Sep 15;95(11):e1615-e1616. Epub 2020 Jul 7 doi: 10.1212/WNL.0000000000010194. PMID: 32636326
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis.
Mutlu D, Tuncer A, Gocmen R, Yalcin-Cakmakli G, Saygı S, Elibol B
Neurology 2019 Feb 26;92(9):438-439. doi: 10.1212/WNL.0000000000007015. PMID: 30804055
Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia.
Uygunoglu U, Gunduz A, Menku SF, Yilmaz B, Hatipoglu E, Yalcinkaya C, Saip S, Apaydin H
Cerebellum 2014 Dec;13(6):787-90. doi: 10.1007/s12311-014-0587-y. PMID: 25084753
Perineal xanthogranulomatous pseudotumor due to intermittent catheterization: a liposarcoma mimic. Case report.
Belville WD, Park JM, Kelly JL, Vaccaro JA
Paraplegia 1994 Sep;32(9):624-6. doi: 10.1038/sc.1994.99. PMID: 7997343
Biochemical abnormalities in cerebrotendinous xanthomatosis.
Salen G, Shefer S, Berginer V
Dev Neurosci 1991;13(4-5):363-70. doi: 10.1159/000112186. PMID: 1817043

Prognosis

A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report.
Min JH, Kim YS, Son MJ, Joo IS
J Med Case Rep 2024 Jul 11;18(1):334. doi: 10.1186/s13256-024-04426-1. PMID: 38987800Free PMC Article
Autosomal recessive cerebellar ataxias.
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family.
Philippart M, Van Bogaert L
Arch Neurol 1969 Dec;21(6):603-10. doi: 10.1001/archneur.1969.00480180059004. PMID: 5355255

Clinical prediction guides

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G
Acta Neurol Belg 2021 Apr;121(2):561-566. Epub 2019 Dec 24 doi: 10.1007/s13760-019-01267-4. PMID: 31875301
Neuroimaging Applications in Chronic Ataxias.
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...