Abstract: TH-PO614

Moyamoya Disease – A Rare Association of Autosomal Dominant Polycystic Kidney Disease

Session Information

Category: Nephrology Education

  • 1302 Fellows and Residents Case Reports

Authors

  • Kelly, Dearbhla, Mater Misericordiae University Hospital, Dublin, Ireland
  • Obilana, Ayanfeoluwa, Mater Misericordiae University Hospital, Dublin, Ireland
  • Marnane, Michael, Mater Misericordiae University Hospital , Dublin, Ireland
  • O'Riordan, Aisling, Mater Hospital, Dublin, Ireland
  • Murphy, Sean, Mater Misericordiae University Hospital, Dublin, Ireland
Background


Moyamoya disease is an idiopathic progressive vaso-occlusive disorder of the intracranial arteries located at the base of the brain that can predispose to stroke. Although cerebral aneurysms and other vascular abnormalities are well described in autosomal dominant polycystic kidney disease (ADPKD), co-incident Moyamoya syndrome and ADPKD has only previously been reported on two occasions.

Methods

A 29-year old Romanian woman presented with a 3 days of headache and right hemiparesis. She was a smoker with a history of untreated hypertension. Her mother, sister and maternal uncle also had ADPKD. No family member had a history of intracranial aneurysms. MRI Brain with contrast revealed a left middle cerebral artery (MCA) territory subcortical infarct, with established infarcts in the right caudate nucleus, left internal capsule and left parietal lobe. Digital Subtraction Angiography confirmed no flow in the MCAs bilaterally with good flow in distal ICAs, ACAs and PCAs bilaterally, multiple collateral vessels consistent with Moyamoya disease. She had a renal ultrasound as part of her work up for hypertension and this revealed bilateral cystic changes consistent with polycystic kidney disease.

Conclusion

The coexistence of these malformations suggests a common genetic background predisposing to these structural abnormalities. Although the genetic contribution in Moyamoya is indisputable, its cause remains uncertain. In this case, alterations in the arterial wall may be linked to the PKD1 or PKD2 genes, expanding the phenotypic variability of ADPKD and providing insight into the pathogenesis of Moyamoya.

Figure 1: A: MRI DWI shows acute left MCA subcortical infarct. B: Flair sequences reveal MCA-PCA watershed infarcts C+D: Bilateral proximal M1 MCA occlusions with collateralization