Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access
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Case Report

Volume 16, Number 9, September 2025, pages 345-351

Renal Cell Carcinoma in A Girl With Tuberous Sclerosis Due to a New Mutation

Figures

↓  Figure 1. (a, b, c) Brain MRI reported multiple subependymal nodules, with a mild subtle increase in the enhancement of the lesion on the left centrum semiovale. MRI: magnetic resonance imaging.
Figure 1.
↓  Figure 2. (a, b) Kidney MRI shows multiple innumerable renal cysts, the largest measuring 0.8 cm. A well-defined round cortical lesion is noted in the interpolar region of the right kidney, which is concerning for renal cell carcinoma. MRI: magnetic resonance imaging.
Figure 2.

Tables

↓  Table 1. The Clinical Criteria for the Diagnosis of Tuberous Sclerosis
 
Minor criteria Major criteria Genetic diagnosis
1. “Confetti” skin lesions 1. Hypomelanotic macules (≥ 3, ≥ 5 mm in diameter) The definite loss of function mutation in TAC1 and/or TSC2 genes
2. Dental enamel pits (> 3) 2. Facial angiofibromas (≥ 3) or frontal fibrous plaque
3. Intraoral fibroma (≥ 2) 3. Ungual fibromas (≥ 2)
4. Retinal achromic patch 4. Shagreen patch or multiple collagenoma
5. Multiple renal cysts 5. Multiple retinal hamartomas
6. Non-renal hamartomas 6. Cortical dysplasia
7. Subependymal nodules
8. Subependymal giant cell astrocytoma
9. Cardiac rhabdomyoma
10. Pulmonary lymphangioleiomyomatosis
11. Renal angiomyolipomas (≥ 2)

 

↓  Table 2. Summary of 12 Cases of Tuberous Sclerosis Complex (TSC)
 
Study Age at presentation Presenting features
[32] 17 months Seizure
[33] 6 months Seizure
[33] 3 months Seizure
[23] 3 months Seizure, delays in speech, cognitive abilities, and social development
[23] 4 months Seizure
[34] 32 years Unilateral angiofibroma and hypopigmented patch
[35] 9 years Unilateral facial angiofibroma
[36] 1 month Erythema and nodules in the face, neck, and oral cavity, several grain-sized hypopigmentation spots on her back
[37] 7 years Facial angiofibroma, hypomelanotic macule on trunk, shagreen patch, and tonic clonic convulsion
[37] 3 years Facial angiofibroma, poliosis (hypomelanosis of hair), and hypomelanotic patches
[37] 7 years Hypomelanotic patches in face, trunk and limbs
[37] 11 months Hypomelanotic patch in trunk multiple and focal seizure