Association of Schimmelpenning Syndrome with Astrocytoma (WHO Grade 3) : Case Report

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dc.contributor.authorTumova, Aija
dc.contributor.authorAuslands, Kaspars
dc.contributor.authorMillers, Andrejs
dc.contributor.authorPriede, Zanda
dc.contributor.authorBuks, Māris
dc.contributor.authorOzola, Agnese
dc.contributor.authorOzoliņa, Elīna
dc.contributor.authorBicāns, Kārlis
dc.contributor.authorUlmanis, Rūdolfs
dc.contributor.institutionDepartment of Neurology and Neurosurgery
dc.date.accessioned2024-11-01T08:25:02Z
dc.date.available2024-11-01T08:25:02Z
dc.date.issued2024-10-14
dc.descriptionPublisher Copyright: © 2024 by the authors.
dc.description.abstractSchimmelpenning syndrome, or epidermal nevus syndrome, is a rare, neurocutaneous disorder characterized by skin abnormalities, such as epidermal nevi, and involvement of the central nervous system, including intracranial tumors. There are only a few reported cases of intracranial tumors associated with Schimmelpenning syndrome. In most cases, a single nucleotide mutation in the RAS family proto-oncogenes, like HRAS or KRAS genes, can result in the genetic mosaicism that is responsible for the clinical manifestations of this syndrome. The authors present a case report of a woman with Schimmelpenning syndrome who sought medical help with complaints of progressive headache and dizziness. The radiological and histopathological findings indicated an astrocytoma, IDH-mutant (WHO grade 3). The molecular analysis revealed pathogenic changes in the oncogenic HRAS gene with a prevalence of 31%. The patient underwent surgical treatment and had no neurological sequelae. By presenting such a clinical case, attention is paid to the interrelationship between genetic syndromes and intracranial tumors.en
dc.description.statusPeer reviewed
dc.format.extent16251131
dc.identifier.citationTumova, A, Auslands, K, Millers, A, Priede, Z, Buks, M, Ozola, A, Ozoliņa, E, Bicāns, K & Ulmanis, R 2024, 'Association of Schimmelpenning Syndrome with Astrocytoma (WHO Grade 3) : Case Report', Medicina (Kaunas, Lithuania), vol. 60, no. 10, 1688. https://doi.org/10.3390/medicina60101688
dc.identifier.doi10.3390/medicina60101688
dc.identifier.issn1010-660X
dc.identifier.otherPubMedCentral: PMC11509802
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/16830
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85207680161&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofMedicina (Kaunas, Lithuania)
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectHumans
dc.subjectFemale
dc.subjectAstrocytoma/complications
dc.subjectAdult
dc.subjectBrain Neoplasms/genetics
dc.subjectProto-Oncogene Proteins p21(ras)/genetics
dc.subjectNevus/complications
dc.subjectMutation
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.titleAssociation of Schimmelpenning Syndrome with Astrocytoma (WHO Grade 3) : Case Reporten
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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