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Surg Neurol Int. 2012;3:148. doi: 10.4103/2152-7806.104742. Epub 2012 Dec 14.

Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome.

Author information

1
Department of Pediatric Neurosurgery, Dana-Dwek Children's Hospital, Tel-Aviv, Israel.

Abstract

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.

CASE DESCRIPTION:

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.

KEYWORDS:

Meningioma; Pothmund-Thomson syndrome; RECQL4

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