Tuberous sclerosis

Case contributed by Vitalii Rogalskyi , 9 Feb 2019
Diagnosis certain
Changed by Vitalii Rogalskyi, 10 Feb 2019

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In this case there are three major features of tuberous sclerosis diagnostic criteria: subependymal nodules, lymphangioleiomyomatosis and renal angimyolipomas (more than 2). So patient has a definite TS complex. Interestingly, patient havehas no clinical symptoms or skin lesions.

  • -<p>In this case there are three major features of tuberous sclerosis diagnostic criteria: subependymal nodules, lymphangioleiomyomatosis and renal angimyolipomas (more than 2). So patient has a definite TS complex. Interestingly, patient have no clinical symptoms or skin lesions.</p>
  • +<p>In this case there are three major features of tuberous sclerosis diagnostic criteria: subependymal nodules, <a href="/articles/lymphangioleiomyomatosis-1">lymphangioleiomyomatosis</a> and <a href="/articles/renal-angiomyolipoma">renal angimyolipomas</a> (more than 2). So patient has a definite TS complex. Interestingly, patient has no clinical symptoms or skin lesions.</p>

Updates to Study Attributes

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CT chest
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CT of the chest: numerous thin-walled lung cysts consistent with lymphangioleiomyomatosis. No pneumothorax. No pleural effusion.

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CT brain
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CT of the brain: multiple calcified subependymal nodules along the margins of the lateral ventricucles consistent with subependymal hamartomas.

CT No signs of the chest: numerous thin-walled lung cysts consistent with lymphangioleiomyomatosis. No pneumothorax. No pleural effusiontraumatic brain injury.

CT of the abdomen: multiple renal angiomyolipomas.

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CT abdomen
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CT of the abdomen: multiple renal angiomyolipomas.

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Updates to Freetext Attributes

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CT of the brain does not show any traumatic injury but demonstrates calcified subependymal nodules (hamartomas). It is suspicious for tuberous sclerosis. 

So next step will be CT of chest and abdomen for searching another signs of TS.

Updates to Quizquestion Attributes

Question was added:
What can you suspect when see calcified subependymal nodules?
Answer was added:
Subependymal hamartomas as sign of tuberous sclerosis.

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