Skip to main content

Vascular involvement in tuberous sclerosis

Pediatric Nephrology volume 25, pages 1555–1561 (2010)Cite this article

Abstract

Vascular involvement in tuberous sclerosis (TS) is rare. Central and peripheral aneurysms and large and medium size arterial stenotic-occlusive disease have been reported in patients with TS. We present here three pediatric patients with TS and severe vascular abnormalities, followed by a review of the literature. The three cases include a 14-month-old girl with polycystic kidneys and cerebral tubers who had a large asymptomatic abdominal aortic aneurysm, a 2-year-old boy with multiple features of TS who had hypertension and was found to have mid-aortic syndrome with bilateral renal artery stenosis, and an 18-year-old girl with abdominal pain and TS features who had greater than 70% celiac artery stenosis. In all cases, noninvasive vascular imaging modalities were utilized for either initial diagnosis, surveillance, or both. These cases highlight the collaborative roles of the pediatric nephrologist and cardiovascular imager in the diagnosis and management of the vascular complications in TS patients. Appropriate care can only be made through a high index of suspicion.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

Fig. 1
Fig. 2

References

  1. Bourneville DM (1880) Contribution a l’etude de l’idiotie. Sclerose tuberuse des circonvolutions cerebrales; idiotie et eiplepsie hemiplegique. Arch Neurol 1:81

    Google Scholar 

  2. Gomez MR (1991) Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann N Y Acad Sci 615:1–7

    Article  CAS  PubMed  Google Scholar 

  3. Crino PB, Nathanson KL, Henske EP (2006) The tuberous sclerosis complex. N Engl J Med 355:1345–1356

    Article  CAS  PubMed  Google Scholar 

  4. Lie JT (1991) Cardiac, pulmonary and vascular involvements in tuberous sclerosis. Ann N Y Acad Sci 615:58–70

    Article  CAS  PubMed  Google Scholar 

  5. Rolfes DB, Towbin R, Bove KE (1985) Vascular dysplasia in a child with tuberous sclerosis. Pediatr Pathol 3:359–373

    Article  CAS  PubMed  Google Scholar 

  6. Jost CJ, Gloviczki P, Edwards WD, Stanson AW, Joyce JW, Pairolero PC (2001) Aortic aneurysma in children and young adulta with tuberous sclerosis: a report of two cases and review of the literature. J Vasc Surg 33:639–664

    Article  CAS  PubMed  Google Scholar 

  7. Wong H, Hadi M, Khoury T, Geary D, Rubin B, Filler G (2006) Management of severe hypertension in a child with tuberous sclerosis-related major vascular abnormalities. J Hypertens 24:597–599

    Article  CAS  PubMed  Google Scholar 

  8. Paraf F, Bruneval P (1996) Arterial fibromuscular dysplasia and Bourneville’s tuberous sclerosis. Ann Pathol 16:203–206

    CAS  PubMed  Google Scholar 

  9. Hagood CO, Garvin DD, Lachina FM, Polsky WS, Ball TP, Bobroff LM (1976) Abdominal aortic aneurysm and renal hamartoma in an infant with tuberous sclerosis. Surgery 79:713–715

    PubMed  Google Scholar 

  10. Olivier HF, Pairolero PC, Hollier LH, Cherry KJ, Lie JT, Stanson AW (1982) Tuberous sclerosis and arterial aneurysms: is there an association? Int Angiol 1:173–177

    Google Scholar 

  11. Moon SB, Shin WY, Park YJ, Kim SJ (2009) An abdominal aortic aneurysm in an 8-month-old girl with tuberous sclerosis. Eur J Vasc Endovasc Surg 37:569–751

    Article  PubMed  Google Scholar 

  12. Kimura Y, Sugimura H, Toda M, Nakamura Y, Shibuya K, Murakami A, Wakita S, Yanagawa Y, Kato H (2005) A case of 2-year-old boy with tuberous sclerosis complicated with descending aortic aneurysm. Pediatr Int 47:224–226

    Article  PubMed  Google Scholar 

  13. Baker PC, Furnival RA (2000) Tuberous sclerosis presenting with bowel obstruction and an aortic aneurysm. Pediatr Emerg Care 16:255–257

    Article  CAS  PubMed  Google Scholar 

  14. Carette MF, Antoine M, Bazelly B, Cadranel J, Khalil A (2006) Primary pulmonary artery aneurysm in tuberous sclerosis: CT, angiography and pathological study. Eur Radiol 16:2369–2370

    Article  PubMed  Google Scholar 

  15. Hite SH, Kuo JS, Cheng EY (1998) Axillary artery aneurysm in tuberous sclerosis: cross-sectional imaging findings. Pediatr Radiol 28:554–556

    Article  CAS  PubMed  Google Scholar 

  16. Beltramello A, Puppini G, Bricolo A, Andreis IA, el-Dalati G, Longa L, Polidoro S, Zavarise G, Marradi P (1999) Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature. Pediatr Radiol 29:206–211

    Article  CAS  PubMed  Google Scholar 

  17. Hung PC, Wang HS, Chou ML, Wong AM (2008) Tuberous sclerosis complex with multiple intracranial aneurysms in an infant. Pediatr Neurol 39:365–367

    Article  PubMed  Google Scholar 

  18. Libby PA, Maitem AN, Strauss EB (1989) Axillary artery aneurysm in a patient with tuberous sclerosis. Pediatr Radiol 20:94

    Article  CAS  PubMed  Google Scholar 

  19. Koch AME, Janka R, Lang W, Dittrich S (2008) Arterial aneurysm in tuberous sclerosis. Eur Heart J 29:1282

    Article  PubMed  Google Scholar 

  20. Calcagni G, Gesualdo F, Tamisier D, Brunelle F, Sidi D, Ou P (2008) Arterial aneurysms and tuberous sclerosis: a classic but little known association. Pediatr Radiol 38:795–797

    Article  PubMed  Google Scholar 

  21. Panayiotopoulos YP, Tyrrell MR, Koffman G, Reidy JF, Haycock GB, Taylor PR (1996) Mid-aortic syndrome presenting in childhood. Br J Surg 83:235–240

    Article  CAS  PubMed  Google Scholar 

  22. Flynn PM, Robinson MB, Stapleton FB, Roy S, Koh G, Tokin IL (1984) Coarctation of the aorta and renal artery stenosis in tuberous sclerosis. Pediatr Radiol 14:337–339

    Article  CAS  PubMed  Google Scholar 

  23. Rabinowicz T (1968) Les tumerurs cerebrales chez l’homme. Bull Acad Suisse Sci Med 24:144–167

    CAS  Google Scholar 

  24. Imaizumi M, Nukada T, Yoneda S, Takano T, Hasegawa K, Abe H (1978) Tuberous sclerosis with moyamoya disease: case report. Med J Osaka Univ 28:345–353

    CAS  PubMed  Google Scholar 

  25. Kramer HH, Karch D, Seibert H (1981) Moyamoya like vascular disease in tuberous sclerosis (authors’ translation). Monatsschr Kinderheilkd 129:595–597

    CAS  PubMed  Google Scholar 

  26. Patzer L, Basche S, Misselwitz J (2002) Renal artery stenosis and aneurysmatic dilatation of arteria carotis interna in tuberous sclerosis complex. Pediatr Nephrol 17:193–196

    Article  PubMed  Google Scholar 

  27. Choh NA, Choh SA, Yousuf R, Jehangir M (2009) A giant aneurysm arising from renal angiomyolipoma in tuberous sclerosis. Arch Dis Child 94:47–48

    Article  CAS  PubMed  Google Scholar 

  28. Bogue CO, Hodnett P, Doyle DJ, Plant WD, Barry JE, Maher MM (2008) Giant pseudoaneurysm complicating an angiomyolipoma in a patient with tuberous sclerosis. Can Assoc Radiol J 59:213–216

    PubMed  Google Scholar 

  29. Henske E, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ (1995) Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer 13:295–298

    Article  CAS  PubMed  Google Scholar 

  30. Jozwiak J, Jozwiak S, Wlodarski P (2008) Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncol 9:73–79

    Article  CAS  PubMed  Google Scholar 

  31. Raft J, Lalot JM, Meistelman C, Longrois D (2005) Influence of pregnancy on renal angiomyolipoma. Gynecol Obstet Fertil 33:898–906

    Article  CAS  PubMed  Google Scholar 

  32. Baskin HJ Jr (2008) The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol 38:936–952

    Article  PubMed  Google Scholar 

Download references

Author information

Affiliations

  1. Division of Nephrology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Ann E. Salerno, Olivera Marsenic, Kevin E. C. Meyers & Bernard S. Kaplan

  2. Department of Radiology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Jeffrey C. Hellinger

  3. Division of Nephrology, Department of Pediatrics, The Children’s Hospital of Philadelphia and the University of Pennsylvania, 34th Street and Civic Center Blvd, Philadelphia, PA, 19104, USA

    Bernard S. Kaplan

Authors
  1. Ann E. Salerno
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Olivera Marsenic
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Kevin E. C. Meyers
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Bernard S. Kaplan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Jeffrey C. Hellinger
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bernard S. Kaplan.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Salerno, A.E., Marsenic, O., Meyers, K.E.C. et al. Vascular involvement in tuberous sclerosis. Pediatr Nephrol 25, 1555–1561 (2010). https://doi.org/10.1007/s00467-010-1466-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00467-010-1466-5

Keywords

  • Aortic aneurysm
  • Celiac artery
  • Computed tomography angiography
  • Mid-aortic syndrome
  • Magnetic resonance angiography
  • Tuberous sclerosis
  • Vascular
  • Vascular ultrasound