FIGURES LEGENDS
FIGURE 1. Cutaneous manifestations of the proband. A, Facial
angiofibromas; B, Shagreen patch.
FIGURE 2. Echocardiography and cardiac magnetic resonance
results of the proband. Chordae of tendinae sclerosis in parasternal
long axis view (A) and in apical 4-chamber view (arrow). Lipofibroma 6 x
22 x 32 mm in midlateral wall of left ventricle (C), (D) (arrow).
FIGURE 3. Cerebral magnetic imaging of the proband. Nodules 5
– 7 mm in brain cortex (A, B, C) and subependymal zone (D).
FIGURE 4. Thoracic Computer Tomography results of the proband.
Nodules 3 - 5 mm in lungs (green arrow).
FIGURE 5. Abdominal Computer Tomography results of the proband.
Angiomyolipoma 50 x 50 mm in two kidneys (green arrow).
FIGURE 6. A, Next generation sequencing revealed a c.2626delA
(p.Thr876ProfsTer18) heterozygous mutation in the patient’s TSC2 gene
(framed by red box). B, Sanger sequencing confirmed the mutation found
(red arrow).