Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting many organ systems. Patients commonly develop a variety of benign tumors as well as neurological disease, including seizures, autism, and cognitive delay. We report here the case of an adolescent patient with TSC and a history of mild COVID-19 who presented with a 1-day history of altered mental status. The patient was found to have ischemic cerebral infarction of the right MCA and ACA territories. Initial angiography showed an occlusion of the right internal carotid artery without a demonstrable etiology, with follow-up echocardiography and angiography revealing a large aortic thrombus. The patient was not a candidate for thrombus removal due to her cerebral infarct and received medical anticoagulation. Thrombosis progressed to involve the left ICA, with left cerebral infarction and subsequent death. Aortic thrombus embolization as a cause of cerebrovascular accident (CVA) is a novel finding in the setting of TSC and should be considered for pediatric patients with CVA of unknown etiology. It is unclear whether this was related to the prior COVID-19 infection.

Keywords

tuberous sclerosis - aortic thrombus - cerebrovascular accident

Publication History

Received: 04 August 2021

Accepted: 18 September 2021

Article published online:
03 December 2021

• Reference

• 1 Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Primers 2016; 2: 16035
• 2 Koc G, Sugimoto S, Kuperman R, Kammen BF, Karakas SP. Pancreatic tumors in children and young adults with tuberous sclerosis complex. Pediatr Radiol 2017; 47 (01) 39-45
• 3 Mehta S, Rusyn L, Ginsburg H, Hajdu C, Kohn B. Pancreatic neuroendocrine tumor in a young child with tuberous sclerosis complex 1. J Endocr Soc 2019; 3 (06) 1201-1206
• 4 Larson AM, Hedgire SS, Deshpande V. et al. Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. Clin Genet 2012; 82 (06) 558-563
• 5 Geiger MA, Cantador AA, Guillaumon AT. Thoracic aortic aneurysm in a patient with tuberous sclerosis. J Vasc Bras 2019; (e-pub ahead of print) DOI: 10.1590/1677-5449.160017.
• 6 Jost CJ, Gloviczki P, Edwards WD, Stanson AW, Joyce JW, Pairolero PC. Aortic aneurysms in children and young adults with tuberous sclerosis: report of two cases and review of the literature. J Vasc Surg 2001; 33 (03) 639-642
• 7 Nishiyama Y, Ueda M, Muraga K, Ota T, Horikawa H, Kimura K. Successful endovascular recanalization of massive cerebral venous sinus thrombosis in a patient with tuberous sclerosis and protein S deficiency: a case report. Oxf Med Case Rep 2019; 2019 (07) omz060
• 8 Beladi-Mousavi SS, Zeraati A, Sharifipour F. et al. Tuberous sclerosis, deep vein thrombosis and lack of C and S proteins: A case report. J Renal Inj Prev 2012; 1 (01) 33-36
• 9 Okafor B, Dawson P, Murray-Lyon IM, Reynolds KW, Samson D. Extrahepatic portal hypertension protein C deficiency and tuberous sclerosis. J R Soc Med 1991; 84 (12) 751-752
• 10 Vasudevan B, Sawhney MP, Radhakrishnan S, Shilpa G. Tuberous sclerosis with portal vein thrombosis, protein C and S deficiency. Indian J Dermatol Venereol Leprol 2007; 73 (06) 412-414
• 11 Islam MP, Roach ES. Tuberous sclerosis complex. Handb Clin Neurol 2015; 132: 97-109
• 12 Acar T, Harman M, Guneyli S, Sen S, Elmas N. Renal sinus fat invasion and tumoral thrombosis of the inferior vena cava-renal vein: only confined to renal cell carcinoma. Case Rep Radiol 2014; 2014: 140365
• 13 Menany M, Khnaba S, Radouane B, Jidal M, Amil T, Saouab R. Giant bilateral angiomyolipomas with spontaneous hemorrhage and inferior vena cava thrombosis in a patient with tuberous sclerosis. Pan Afr Med J 2017; 27: 223
• 14 Gomez MR. Strokes in tuberous sclerosis: are rhabdomyomas a cause?. Brain Dev 1989; 11 (01) 14-19
• 15 Griffiths PD, Martland TR. Tuberous sclerosis complex: the role of neuroradiology. Neuropediatrics 1997; 28 (05) 244-252
• 16 Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK. International Tuberous Sclerosis Consensus Group. Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. J Am Heart Assoc 2014; 3 (06) e001493
• 17 Oxley TJ, Mocco J, Majidi S. et al. Large-vessel stroke as a presenting feature of Covid-19 in the young. N Engl J Med 2020; 382 (20) e60
• 18 Chakir M, El Jamili M, Boudhar Z, El Hattaoui M. Simultaneous acute myocardial infarction, bilateral pulmonary embolism, and acute ischaemic cerebral stroke, a delayed complication in a patient with COVID-19 infection: case report. Eur Heart J Case Rep 2021; 5 (06) b218
• 19 Hosseini M, Sahajwani S, Zhang J, Toursavadkohi S, Ucuzian AA. Delayed stroke after hospitalization for coronavirus disease 2019 pneumonia from common and internal carotid artery thrombosis. J Vasc Surg Cases Innov Tech 2021; 7 (01) 40-45
• 20 de Lorenzo Alvarez A, Revilla Á, Corbalán T. et al. Ischemic stroke and purpuric dermatitis as COVID-19-related complications in a peritoneal dialysis patient. CEN Case Rep 2021; 10 (02) 250-254
• 21 Appavu B, Deng D, Dowling MM. et al. Arteritis and large vessel occlusive strokes in children after COVID-19 infection. Pediatrics 2021; 147 (03) e2020023440
• 22 Del Borrello G, Giraudo I, Bondone C. et al. SARS-COV-2-associated coagulopathy and thromboembolism prophylaxis in children: A single-center observational study. J Thromb Haemost 2021; 19 (02) 522-530