Case Report

A Case of Tuberous Sclerosis: Hidden in Plain Sight

Umar Farooq
Department of Radiology, Rashid Latif Medical College, Lahore

✉ Correspondence: Umar Farooq Email: umarf000122@gmail.com

DOI https://doi.org/10.70302/jpsim.v4i1.2313
Volume: 4, Issue 1 Pages: 60–62 Published: 13 Feb 2023
Received: 20 Nov 2022 Accepted: 01 Dec 2022 Published Online: 13 Feb 2023

Abstract

This case report follows a 35-year-old female who presents with vague nonspecific symptoms which she had been bearing on analgesics for the many years prior, and it was only on extensive radiological imaging that a proper, yet rare diagnosis was reached. This patient would eventually be diagnosed with Tuberous Sclerosis (TSC), a rare genetic disorder characterized by the growth of benign tumors in different organ systems, with manifestations in most organ systems . It affects approximately 1 in 6,000–10,000 individuals, although the variable penetrance and subtle presentations of the disease mean that this number is likely under-representative of the true incidence .This case highlights the importance of a holistic approach and sheds light on disorders that may go undiagnosed despite being rather apparent once viewed in hindsight.

How to Cite This Article

Farooq U. A Case of Tuberous Sclerosis: Hidden in Plain Sight. J Pak Soc Intern Med. 2023;4(1):60–62. doi:10.70302/jpsim.v4i1.2313

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Conflict of Interest

All authors declare no competing interests.

Disclosed in accordance with ICMJE and COPE guidelines.

Funding

No specific funding was received for this research.

Funder information follows the Crossref Funder Registry standard.

References

  1. Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCDM. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018;93(3):323-31.
  2. Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N. Engl. J. Med. 2006;355(10):1345-56
  3. Northrup H, Krueger DA, Roberds S, Smith K, Sampson J, Korf B. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric neurology. 2013;49(4):243-54.
  4. DiMario FJ, Sahin M, Ebrahimi-Fakhari, D. Tuberous sclerosis complex. Pediatric Clinics. 2015;62(3):633-48.
  5. Hino O, Kobayashi T. Mourning Dr. Alfred G. Knudson: the two‐hit hypothesis, tumor suppressor genes, and the tuberous sclerosis complex. Cancer science. 2017;108(1):5-11.
  6. Sciacca P, Giacchi V, Mattia C, Greco F, Smilari P, Betta P, Distefano G. Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases. BMC cardiovascular disorders. 2011;14(1): 1-11.
  7. Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z et al. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014;38(7):895-909.

Reference list indexed for Google Scholar and ResearchGate. DOI links resolve via doi.org.

CC BY CC BY 4.0 This article is published under the Creative Commons Attribution 4.0 International License. May be shared and adapted with attribution. © 2023 Journal of Pakistan Society of Internal Medicine.
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