Browsing by Author "Ozola, Agnese"

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    Association of Schimmelpenning Syndrome with Astrocytoma (WHO Grade 3) : Case Report
    (2024-10-14) Tumova, Aija; Auslands, Kaspars; Millers, Andrejs; Priede, Zanda; Buks, Māris; Ozola, Agnese; Ozoliņa, Elīna; Bicāns, Kārlis; Ulmanis, Rūdolfs; Department of Neurology and Neurosurgery
    Schimmelpenning 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.