Official publication of Rawalpindi Medical University
A Rare Case of Tuberous Sclerosis with Giant Cell Astrocytoma
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How to Cite

1.
Sidra Masood, Mudassar Sharif Bhatti SMMSB. A Rare Case of Tuberous Sclerosis with Giant Cell Astrocytoma. JRMC [Internet]. 2022 Mar. 31 [cited 2022 Dec. 1];26(1). Available from: http://www.journalrmc.com/index.php/JRMC/article/view/1019

Abstract

Tuberous sclerosis complex (TSC) is a neurocutaneous disease inherited in an autosomal dominant pattern with variable penetration. This case report is of a 12-year-old boy who presented with complaints of headache, vomiting, and fits. His neurocutaneous stigmata combined with radiological imaging led us to the diagnosis of TSC with sub ependymal giant cell astrocytoma (SEGA). His family screening revealed interesting details of how the disease is running in his family. He is now scheduled for surgery at our neurosurgery department for the removal of SEGA.
This case is significant because it is a typical depiction of the classic pattern of autosomal dominant inheritance of TSC with evident variable penetration within members of the same family.

https://doi.org/10.37939/jrmc.v26i1.1019
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