Jessica White1, Vaishnavi Rao2, Chase Ransom2, Giuseppe Lanzino2, Michael Ruff1
1Neurology, 2Neurosurgery, Mayo Clinic
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.
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.