» Articles » PMID: 39229295

Atypical Case of Tuberous Sclerosis with Isolated Neurologic Findings: A Case Report

Overview
Journal Clin Case Rep
Date 2024 Sep 4
PMID 39229295
Authors
Affiliations
Soon will be listed here.
Abstract

Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous disorder. This case highlights rare isolated neurologic finding in a TSC patient emphasizing the need for heightened suspicion even in the absence of any cutaneous findings and family history.

References
1.
Gomez M . History of the tuberous sclerosis complex. Brain Dev. 1995; 17 Suppl:55-7. DOI: 10.1016/0387-7604(94)00130-8. View

2.
Randle S . Tuberous Sclerosis Complex: A Review. Pediatr Ann. 2017; 46(4):e166-e171. DOI: 10.3928/19382359-20170320-01. View

3.
Chu-Shore C, Major P, Camposano S, Muzykewicz D, Thiele E . The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010; 51(7):1236-41. PMC: 3065368. DOI: 10.1111/j.1528-1167.2009.02474.x. View

4.
Tee A, Fingar D, Manning B, Kwiatkowski D, Cantley L, Blenis J . Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci U S A. 2002; 99(21):13571-6. PMC: 129715. DOI: 10.1073/pnas.202476899. View

5.
Northrup H, Krueger D . Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013; 49(4):243-54. PMC: 4080684. DOI: 10.1016/j.pediatrneurol.2013.08.001. View