PMC5398028_01
A) Hypopigmented macules on lower leg (blue arrow). B) Confetti skin lesions (yellow arrow). C) Retinal Hamartoma superior to disc in her rigth eye (red arrow).
OC-07-11-g-001.jpg
PMC5398028_01_OC-07-11-g-001.jpg
F1
On dermatologic inspection, she had multiple hypopigmented macules on her lower legs (Figure 1A (Fig. 1)) and "confetti" skin lesions on the abdomen (Figure 1B (Fig. 1)). On fundus examination, the right eye had a lesion of 1 disk diameter, yellowish and elevated, superior to the disk compatible with a retinal hamartoma (Figure 1C (Fig. 1)) and another in the peripheral retina; in the left eye, another semi translucent lesion was seen superior to the vascular arcade.
Cerebral MRI revealing diffuse areas of commitment in the white matter (yellow arrow) and cortex with multiple frontal, temporal, parietal, and occipital (white arrow), subependymal lesions of tubers (red arrow).
OC-07-11-g-002.jpg
PMC5398028_01_OC-07-11-g-002.jpg
F2
Brain contrast enhanced MRI revealed diffuse areas of commitment in the white matter and cortex with multiple subependymal lesions suggestive of tubers (Figure 2 (Fig. 2)).
Echocardiogram revealed the rhabdomyoma that compromised interventricular septum, left ventricle and aortic valves (red arrow).
OC-07-11-g-003.jpg
PMC5398028_01_OC-07-11-g-003.jpg
F3
The echocardiogram showed a rhabdomyoma that compromised the interventricular septum essentially (Figure 3 (Fig. 3)).
Color photographs of the optic nerve at 1-year follow-up. Note the normal appearance of the optic disc and neuroretinal rim.
OC-07-11-g-004.jpg
PMC5398028_01_OC-07-11-g-004.jpg
F4
Fundus examination revealed healthy optical discs with a normal neuroretinal rim (Figure 4 (Fig. 4)), the previously described lesions presented no changes.