J Med Cases

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

Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc

Journal website https://jmc.elmerpub.com

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 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.

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