Abstract Details

Title Meningiomatosis in a Patient with Cornelia de Lange Syndrome: A Case Study

Topic Neuro-oncology

Presentation(s) P6 - Poster Session 6 (8:00 AM-9:00 AM)

Poster/Presentation
Number 5-001

Objective We present a rare case of meningiomatosis in a patient with Cornelia de Lange Syndrome (CdLS).

Background CdLS is a developmental disorder that results from mutations in cohesin structural and regulatory genes. This syndrome encompasses a phenotype that includes distinct facial features, growth delays, intellectual disability, and/or limb defects. Cells with mutations in the genes that encode cohesin demonstrate increased DNA damage signaling, suggesting that defective DNA damage signaling and repair may also be a phenotype of CdLS.

Design/Methods NA

Results A 36-year-old female with CdLS presented with 6 months of progressive left lower extremity weakness, decline in mobility, and falls. Head CT demonstrated a large, heterogenous right frontal lobe mass with midline shift and an additional partially calcified, extra-axial mass abutting the anterior right temporal lobe. MRI brain demonstrated six lesions: a right parafalcine mass overlying the motor areas and exerting significant mass effect, a mass in the right anterior temporal region, a mass in the left mesial anterior temporal lobe, 2 masses in the left temporoparietal region, and 1 small mass overlying the posterior aspect of the cervicomedullary junction. She underwent stereotactic right frontal craniotomy for gross total resection of the large right parafalcine mass with pathology consistent with a meningioma, transitional subtype (CNS WHO grade 1). Her post-operative course was complicated by airway edema, pulmonary edema secondary to Pneumocystis jiroveci pneumonia while on steroids requiring re-intubation, as well as ileus. She was subsequently discharged on post-operative day 22.

Conclusions

To the best of our knowledge, this is the first case to illustrate meningiomatosis in a patient with known CdLS. Somatic mutations in cohesin genes are associated with cancer development. The tumor burden in this patient calls into question if germline mutations in cohesin genes may also contribute to tumorigenesis.

Authors/Disclosures
Jessica White, MD PRESENTER	Dr. White has nothing to disclose.
Vaishnavi Rao	No disclosure on file
Ryan Ransom (Mayo Clinic)	No disclosure on file
Giuseppe Lanzino, MD (Mayo Clinic)	Dr. Lanzino has nothing to disclose.
Michael W. Ruff, MD (Mayo Clinic)	Dr. Ruff has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Radmetrix. Dr. Ruff has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Servier. Dr. Ruff has received intellectual property interests from a discovery or technology relating to health care.

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