Tuberous sclerosis complex: Case report and management by multidisciplinary approach

Danyal Shafiq Butt, Mehreen Kamran, Ahmad Ussaid, Dr. Zia Ullah, Khalid Iqbal Butt


Tuberous Sclerosis Complex (TSC) is a syndrome characterized by cellular hyperplasia, tissue dysplasia and multiple organ hamartomas. It is a lifelong condition requiring periodic monitoring and evaluation to reduce morbidity and mortality. Our patient is a 32-year-old male who presented to us as an undiagnosed case since childhood with one-week history of abdominal pain. He was uneducated, as well as, suffering from bipolar disorder. On examination, he fulfilled five major clinical criteria required for diagnosis of TSC. The abdominal pain was due to renal complications of the disease, bilateral angiomyolipomas. The routine renal function tests were normal; however, confirmatory radioactive nuclear scan (DTPA) was done to evaluate detailed functional status of both kidneys. The results of DTPA indicated critically low split kidney function bilaterally, inhibiting us from any immediate surgical intervention. The patient was put up on monthly follow-up and treated for his bipolar disorder. Delay in diagnosis for more than 30 years lead to the complications of renal angiomyolipomas and bipolar disorder. Prompt diagnosis, periodic monitoring and evaluation based on individual TSC-associated neuropsychiatric disorders (TAND) profile will delay the complications and help patients becoming productive members of the society. 



Tuberous sclerosis complex, bilateral renal angiomyolipomas, TAND profile, genetic disorders, diagnostic criteria

Full Text:



Thiele EA. Managing epilepsy in tuberous sclerosis complex. J Child Neurol. 2004;19:680-6.

Gomez M, Sampson J, Whittemore V, editors. Tuberous Sclerosis Complex. New York: Oxford University Press; 1999.

Darling TN. Tuberous sclerosis complex. In: Goldsmith SA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K, editors. Fitzpatrick’s Dermatology in General Medicine, 8th edn. New York: McGraw-Hill; 2012. 1671-9.

Northrup H, Krueger DA, on behalf of the International Tuberous Sclerosis Complex Consensus Group. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49:243-54.

Krueger DA, Northrup H. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol. 2013;49:255-65.

Gusman M, Servaes S, Feygin T, Degenhardt K, Epelman M. Multimodal imaging in the prenatal diagnosis of tuberous sclerosis complex. Case Reports Pediatr. 2012; 2012. doi:10.1155/2012/925646

Milunsky AI, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol. 2009;200:321.e1-6.

de Vries PJ, Whittemore VH, Leclezio L, Byars AW, Dunn D, Ess KC et al. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND checklist. Pediatr Neurol. 2015;52(1):25-35.

Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Belousova E, Frost MD et al. Everolimus long-term use in patients with tuberous sclerosis complex: Four-year update of the EXIST-2 study. Plos One . 2017;12(8): e0180939.


  • There are currently no refbacks.

ISSN: 1560-9014