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Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions

  • PAEDIATRIC RADIOLOGY
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Abstract

Introduction

Tuberous sclerosis complex (TSC) involves frequently the kidneys. Lesions encompass mainly angiomyolipoma and cysts. The disease can be associated with autosomal dominant polycystic kidney disease leading to the contiguous gene syndrome (CGS) The objectives of the present study were to review the US appearances of the renal involvement in children affected by classical TSC or by the CGS and to verify whether it is possible to differentiate between both entities. The evolution of the lesions through time was also studied.

Materials and methods

55 cases of patients <16 years with STB were reviewed by two pediatric radiologists. Clinical data reviewed included age at diagnosis, genetic assessment and complications; US data reviewed included renal size, type of lesions (angiomyolipoma—AML, or cysts), number and location as well as their evolution with time. Complications were also analyzed.

Results

30 patients (56 %) had at least one kidney lesion (27 classical TSC and 3 CGS). On the basis of the US findings, these patients were separated into four groups. Group 1 (9 patients) displayed microscopic (diffuse) AML; group 2 (3 patients) displayed macroscopic AML; group 3 (9 patients) displayed only renal cysts and group 4 (9 patients) displayed the association of AML and cysts. Increased renal size, the large number and size of cystic lesions were suggestive of the CGS. The isolated AML were suggestive of classical STB. The average growth of angiomyolipoma was low before age of 12 and exceeded 4 mm/year thereafter.

Conclusion

In children with TSC, renal involvement is common. Some US criteria can help to suggest the diagnosis of CGS. The growth of angiomyolipoma is slow before 12 years and accelerates thereafter. Complications are rare.

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Abbreviations

TSC:

Tuberous sclerosis complex

CGS:

Contiguous gene syndrome

ADPKD:

Autosomal dominant polycystic kidneys disease

AML:

Angiomyolipoma

US:

Ultrasound

PACS:

Picture archiving and communication system

CMD:

Cortico-medullary differentiation

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Authors and Affiliations

  1. Department of Pediatric Imaging, Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037, Lille Cedex, France

    Arthur Robert, Nathalie Boutry & Fred E. Avni

  2. Department of Nephrology, Hôpital Jeanne de Flandre, Avenue Eugène Avinée, 59037, Lille Cedex, France

    Valerie Leroy

  3. Department of Neuropediatrics, National Reference Center “Sclérose tubéreuse de Bourneville”, CHRU Lille, Avenue Oscar Lambret, 59037, Lille Cedex, France

    Audrey Riquet

  4. Department of Functional Testing of the Vision, CHRU-Lille, Avenue Oscar Lambret, 59037, Lille Cedex, France

    Lucile Gogneaux

Authors
  1. Arthur Robert
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  2. Valerie Leroy
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  3. Audrey Riquet
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  4. Lucile Gogneaux
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  5. Nathalie Boutry
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  6. Fred E. Avni
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Correspondence to Arthur Robert.

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Robert, A., Leroy, V., Riquet, A. et al. Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions. Radiol med 121, 402–408 (2016). https://doi.org/10.1007/s11547-015-0572-7

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  • DOI: https://doi.org/10.1007/s11547-015-0572-7

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