Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome.
BACKGROUND
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by genomic instability and increased risk of various malignancies, especially osteosarcoma and squamous cell carcinoma. We report the first RTS patient who developed a central nervous system (CNS)-related neoplasm.


METHODS
A 28-year-old male, previously diagnosed with RTS , developed a massive parasagital lesion, detected by magnetic resonance imaging. The tumor was surgically removed and histologically diagnosed as atypical meningioma. Preoperative symptoms were dramatically improved.


CONCLUSIONS
This is the first description of a CNS-related malignancy in RTS patients. Although rare, the genomic instability and additional risk factors of this syndrome should be considered in choosing the course of treatment.
Department of Pediatric Neurosurgery, Dana-Dwek Children's Hospital, Tel-Aviv, Israel.
Niv
N
Pencovich
Nevo
N
Margalit
Shlomi
S
Constantini
Meningioma; Pothmund-Thomson syndrome; RECQL4