PMC5980969_01
Left: pedigree of the present family (patient II-2: propositus). Circles denote females and squares males. Red squares denote autosomal dominant kidney disease (ADPKD) and blue squares denote cerebral cavernous malformations (CCM). Right: MRI showing presence of cerebral cavernoma of patient II-2: T2 weighted sequence shows circumscribed lesion with a typical "popcorn" or "berry" texture in the upper portion of the vermis and the superior left cerebellar peduncle (white arrow) establishing the diagnosis of cerebral cavernoma. An additional digital subtraction angiography did not display any other vascular malformation.
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F1
A 49-year-old woman (patient II-2 in Figure 1) with ADPKD (multiple bilateral cysts, estimated glomerular filtration rate 87 ml/min) presented with a 2-day history of a rotary vertigo of sudden onset. An MRI scan showed a circumscribed lesion in the upper portion of the vermis and the superior left cerebellar peduncle (Figure 1, right panel). Additional digital subtraction angiography (DSA) did not reveal any other vascular malformation or aneurysm (Figure 1, right panel). These data established the clinical diagnosis of ADPKD (Figure 1).