Abstract
BACKGROUND: Desmoplastic myxoid tumor (DMT) of the pineal region, SMARCB1 mutant is a newly proposed tumor in the 2021 World Health Organization classification of central nervous system tumors. Based on a comprehensive literature review, only 10 cases have been reported so far. OBSERVATIONS: Here, the authors describe a 50-year-old female who presented with sudden headache and dizziness combined with paralysis of upward gaze. Imaging studies showed a pineal region mass with obstructive hydrocephalus. The patient underwent a pineal region tumor resection, and the pathological result confirmed the diagnosis of DMT, SMARCB1 mutant. LESSONS: This case showed a patient with DMT, SMARCB1 mutant with a relatively low Ki-67 proliferation index (less than 1%), clinically combined with typical Parinaud's syndrome. At the same time, the follow-up of this case may provide a better understanding of the prognosis of this specific kind of tumor. https://thejns.org/doi/10.3171/CASE24419.