Table 1
The proband’s clinical diagnostic criteria.
| Major Features | Minor Features |
|---|---|
| Angiomyolipomas | Multiple renal cysts |
| Cortical tubers | Gingival fibromas |
| SEGA | |
| Hypopigmented macules | |
| Fagial angiofibromas | |
| Cardiac rhabdomyoma |
Figure 1
At the upper pole of the right kidney a large AML, longest diameter of 12.3 × 7.1 cm (arrow left) with heterogenous density, presence of microaneurisms at the posterior and lateral segments, with a dominant lipid component revealed on the urinary tract MRI (red arrow). At the lower pole of the left kidney, an AML with the dimension of 5.3 × 3.7 cm (arrow right) and other multiple AMLs with dimensions of 5-10 mm were found, as well as multiple cysts.
Figure 2
On the brain MRI, multiple lesions as subependimal nodules, subcortical tubers and largest tumor mass presented in foramen Monro as SEGA (diameter 3.0 × 1.5 cm) were described.
Figure 3
Magnetic resonance imaging of the urinary tract at 12 months after everolimus initiation.
Figure 4
Magnetic resonance imaging of the brain at 12 months after everolimus initiation.
Figure 5
Magnetic resonance imaging of the urinary tract at 36 months after everolimus treatment initiation.
Figure 6
Magnetic resonance imaging of the brain at 36 months after everolimus treatment initiation.
Table 2
Biochemical laboratory findings in the follow-up period.
| Parameters | First Year | Second Year | Third Year |
|---|---|---|---|
| Hb (g/dL) | 12.1 | 12.4 | 12.6 |
| RBC (1012/L) | 3.9 | 4.1 | 4.0 |
| Platelets (109/L) | 245.0 | 254.0 | 256.0 |
| Protein/albumin (g/dL) | 79.0/41.0 | 82.0/42.0 | 81.0/42.0 |
| SCR (μmol/L) | 62.0 | 61.0 | 63.0 |
| BUN (mmol/L) | 3.8 | 2.9 | 3.5 |
| Cholesterol (mmol/L) | 4.0 | 4.1 | 4.0 |
| HDL (mmol/L) | 1.2 | 1.3 | 1.2 |
| LDL (mmol/L) | 2.3 | 2.2 | 2.1 |
| Triglycerides (mmol/L) | 0.96 | 1.10 | 1.10 |
| CRP (mg/L) | 1.9 | 1.2 | 1.6 |
| Proteinuria (g/24 hours) | 0.13 | 0.11 | 0.17 |