Brain vessel anomalies in autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is frequently associated with intracranial aneurysms. We describe two sisters with ADPKD and unusual cerebral vessel anomalies. Moyamoya syndrome was found in the younger sister, who had an ischaemic stroke at the age of 5 years [Figure - 1]. In the older sister, with no neurological deficit, a monstrous venous anomaly was diagnosed [Figure - 2]. The patients’ father, also suffering from ADPKD, had a history of cerebellar stroke at the age of 34 years. He had no malformations of the vessels. These cases describe the rare reports of patients with ADPKD who have cerebral vasculopathies other than aneurysms.

Figure 1: Magnetic resonance angiography of the younger sister. Severe stenosis of both internal carotid arteries ICAs (⇒ ) Compensatory collateral circulation by small, abnormally dilated vessels (‘puff of cigarette smoke’) (⇓)

Figure 2: Computed tomography angiography of older sister. A monstrous venous anomaly draining into a cavernous sinus (←)