Figure 1.

Phenotypic and radiological features in GNAQ/GNA11 mosaicism. (a) Clinical features of a patient with SWS with a capillary malformation of the face involving the critical forehead area (Waelchli et al., 2014), associated with glaucoma in the right eye. This patient had hypocalcemia with low levels of ionized and total calcium and increased PTH. (b and c) Clinical features of a patient with PPV-DM exhibiting a capillary malformation (with naevus anaemicus) on the face, upper trunk, and extensive areas of dermal melanocytosis. (d and e) Contrast enhanced fluid-attenuated inversion recovery and T1-weighted magnetic resonance images of a patient with SWS show left frontal, parietal, and occipital pial angiomatosis (vascular malformation, arrows). (f) Susceptibility-weighted imaging (SWI) and (g) SWI phase map depicting vascular calcifications (arrow). This patient had low levels of ionized calcium and total calcium with PTH in the normal range. (h) Axial DWI b0 image does not show calcifications on the baseline magnetic resonance imaging study. (i–k), images from 8-years later. (i) Coronal fluid-attenuated inversion recovery after administration of a gadolinium-based contrast agent shows left parietal and occipital (and some contralateral) sulcal enhancement in keeping with pial angioma. (j) Axial postcontrast T1-weighted image depicts the sulcal enhancement and a prominent draining vein. (k) DWI b0 image at follow-up shows foci of increased susceptibility which are suggestive of calcification. Patients and/or parents/guardians provided written consent for the publication of images. Ca/Cr, calcium to creatinine ratio; PTH, parathyroid hormone.