Tuberous Sclerosis or Bourneville-pringle disease: A rare case report

  • Authors

    • Harsh Kumar Veshar JLN MEDICAL COLLEGE AJMER RAJASTHAN
    • Veer Bahadur Singh JLN Medical College, Ajmer
    • Mayank Shrivastava JLN Medical College, Ajmer
    • Ibrahim Khan JLN Medical College, Ajmer
    • Kapil Singh Meena GOVERNMENT MEDICAL COLLEGE SIROHI
    • Sourabh Soni JLN Medical College, Ajmer
    • Amit Kant JLN Medical College, Ajmer
    • Saranshi Singh
    2023-11-03
    https://doi.org/10.14419/cykdad73
  • Abstract

    Introduction: Tuberous sclerosis or Bourneville’s disease is rare autosomal dominant neurocutaneous. Which is characterized by Skin changes, neurological issues, and the development of hamartomas in several organs that cause morbidity and mortality. The gingival hyperplasia, fibromas, hypopigmented lesion’s and enamel hypoplasia are the most typical features of presentation. The case report emphasises on the crucial clinical characteristics, radiographic characteristics, and laboratory abnormalities of Tuberous Sclerosis assisting in the early detection and treatment of such a rare illness.

    Case presentation: In this report, we present a case of tuberous sclerosis in a 25-year- old female who displayed abnormal body movement along with a hypopigmented macule, ash leaf spots, periungual fibroma, gum hyperplasia, and hematuria with pain in the bilateral flank.

    Conclusion: Our aim is to raise awareness for tuberous sclerosis by using this instance to highlight the disease's rarity and the difficulty in identifying and treating cases like this.

    Author Biographies

    • Harsh Kumar Veshar, JLN MEDICAL COLLEGE AJMER RAJASTHAN

      GENERAL MEDICINE, SENIOR RESIDENT

    • Veer Bahadur Singh, JLN Medical College, Ajmer

      GENERAL MEDICINE, SENIOR PROFFESOR

    • Mayank Shrivastava, JLN Medical College, Ajmer

      GENERAL MEDICINE, ASSOCIATE PROFESSOR

    • Ibrahim Khan, JLN Medical College, Ajmer

      GENERAL MEDICINE, ASSISTANT PROFESSOR

    • Kapil Singh Meena, GOVERNMENT MEDICAL COLLEGE SIROHI

      PULMONARY MEDICINE, ASSISTANT PROFESSOR

    • Sourabh Soni, JLN Medical College, Ajmer

      GENERAL MEDICINE, SENIOR RESIDENT 

    • Amit Kant, JLN Medical College, Ajmer

      GENERAL MEDICINE, SENIOR RESIDENT 

  • References

    1. Dumitrescu D, Georgescu EF, Niculescu M, Dumitrescu CI, Mogoanta SS, Georgescu I. Tuberous sclerosis complex: Report of two intrafamilial cases, both in mother and daughter. Rom J Morphol Embryol. 2009;50:119–24. [PubMed] [Google Scholar].
    2. Tony Burns, Stephen, Breathnach Neil cox et al. Tuberous Sclerosis complex In Rooks textbook of Dermatology, Volume 1 Massachu-setts Blackwell science, 2004;355:1345-1356. https://doi.org/10.1002/9780470750520.
    3. Illahi Y, Tanveer S, Khurshid Pasha KA, Naeem A, Ali N. Tuberous sclerosis. Classical presentation in a male patient. NMJ. 2010;2:29–32. [Google Scholar].
    4. Midde ML, Saheb DM. Tuberous sclerosis complex – A case report. Southeast Asian J Case Rep Rew. 2013;2:343–8. [Google Scholar].
    5. Shrestha S, Shrestha S, Ojha AR. Case report on tuberous sclerosis. J Kathmandu Med Coll. 2013;2:208–10. [Google Scholar]. https://doi.org/10.3126/jkmc.v2i4.11798.
    6. Tuberous Sclerosis Complex Board of Osaka University Hospital. Tuberous sclerosis complex: recent advances in manifestations and therapy. Wataya‐ Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, Nonomura N. https://doi.org/10.1111/iju.13390.
    7. Tuberous sclerosis. Curatolo P, Maria BL. Handb Clin Neurol. 2013;111:323–331. [PubMed] [Google Scholar]. https://doi.org/10.1016/B978-0-444-52891-9.00038-5.
    8. Tuberous sclerosis complex: a review. Leung AK, Robson WL. J Pediatr Health Care. 2007;21:108–114. [PubMed] [Google Scholar]. https://doi.org/10.1016/j.pedhc.2006.05.004.
  • Downloads

  • How to Cite

    Kumar Veshar, H., Veer Bahadur Singh, Mayank Shrivastava, Ibrahim Khan, Kapil Singh Meena, Sourabh Soni, Amit Kant, & Singh , S. (2023). Tuberous Sclerosis or Bourneville-pringle disease: A rare case report. International Journal of Medicine, 11(2), 20-23. https://doi.org/10.14419/cykdad73