Renal Findings in Tuberous Sclerosis Complex: A Three Case Report

Background: Renal involvement is a major cause of morbidity and mortality in tuberous sclerosis complex (TSC). The most common renal lesions associated with TSC are angiomyolipomas (AMLs), cysts and renal cell carcinoma. Renal cysts and AMLs usually do not grow significantly until after puberty, and often not until the third or fourth decade of life.

Objective: The aim of our paper is to highlight the diversity of renal manifestations of TSC in children and the importance of periodic imaging surveillance.

Methods: We present three cases of TSC admitted to our hospital with different kidney findings.

Results: Case 1, a 12-year-old boy was admitted for abdominal pain. He was diagnosed with TSC at 18 months of age: lumbar Shagreen patch, hypomelanotic macules, facial angiofibromas, subcortical and subependymal hamartomas, subependymal giant cell astrocytoma. The abdominal computerized tomography (CT) scan showed multiple cysts and hypodense nodules, homogenous, some with fat content, 8/6mm, well-defined, in both kidneys. Case 2, a 16-years-old boy, diagnosed with TSC at the age of 13 (hypomelanotic macules, facial angiofibromas, periungual and gingival fibromas, subependymal hamartomas), was admitted for reevaluation: abdominal CT scan describes multiple hepatic cysts and multiple hypodense images, 16/14mm, well-defined, that disorganize normal structure in both kidneys (AMLs). Case 3, a 9-year-old boy, diagnosed with TSC at 1 year of age (cutaneous findings), was admitted for an abdominal mass (15/10cm) in the left hypochondrium. The abdominal CT scan revealed a non-homogeneous mass in the left kidney, with an irregular outline, 12/7cm, compressing the pyelocaliceal system (AML). All patients have renal function intact. The renal lesions were discovered by routine ultrasound.

Conclusion: Renal manifestations vary a lot in TSC: from small to gigantic AMLs, without correlation with age or other TSC findings. These 3 different cases outline the importance of routine ultrasound in children with TSC.