Tuberous sclerosis complex: Case report and management by multidisciplinary approach

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

Abstract


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. 

 


Keywords


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

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References


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ISSN: 1560-9014