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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
Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.
Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ, Keyser A, Wevers RA, Valk J
Radiology 2000 Dec;217(3):869-76. doi: 10.1148/radiology.217.3.r00dc03869. PMID: 11110956
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

Diagnosis

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
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
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
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings.
Dotti MT, Federico A, Signorini E, Caputo N, Venturi C, Filosomi G, Guazzi GC
AJNR Am J Neuroradiol 1994 Oct;15(9):1721-6. PMID: 7847220Free 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

Therapy

The clinical and imaging features of cerebrotendinous xanthomatosis: A case report and review of the literature.
Ma C, Ren YD, Wang JC, Wang CJ, Zhao JP, Zhou T, Su HW
Medicine (Baltimore) 2021 Mar 5;100(9):e24687. doi: 10.1097/MD.0000000000024687. PMID: 33655933Free PMC Article
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
A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
Takasone K, Morizumi T, Nakamura K, Mochizuki Y, Yoshinaga T, Koyama S, Sekijima Y
Intern Med 2020 Oct 15;59(20):2587-2591. Epub 2020 Jun 23 doi: 10.2169/internalmedicine.5037-20. PMID: 32581172Free 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
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

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