Table 1.
Diagnostic criteria and their limitations in adult MMD.
Table 2.
Factors predicting the genetic variant of RNF213 associated with MMD among 352 patients with intracranial arterial stenosis.
Fig 1.
Number of cases with RNF213 variant+ among intracranial patients with healthy and stroke controls.
Fig 2.
Angiographic progression of MMD in an adult patient with intracranial stenosis.
A 42-year-old female presented with transient numbness and clumsiness of her left hand. She had mild stenosis on bilateral and proximal middle cerebral arteries. There was no stenosis of the distal internal carotid artery and basal collaterals, called Moyamoya vessels, on conventional angiography (upper lane). Angiographic findings taken one year later show the progression of stenosis and Moyamoya vessels bilaterally (lower lane). Genetic study revealed RNF213 mutation associated with MMD (p.Arg4810Lys).
Fig 3.
Neuroimaging and genetic findings of a patient with non-Moyamoya-type intracranial arterial occlusive disease.
(a) Conventional angiography of a 53-year-old male shows stenosis of the proximal MCA, but intact distal ICA and absence of Moyamoya vessels. (b) Family tree. This patient has a family history of MMD and RNF213 p.Arg4810Lys mutations. Small black points indicate members who were directly examined. (c) High-resolution MRI reveals a smaller outer diameter (2.32 mm) and the absence of focal plaque in the stenotic segment (arrow). ICH, intracranial hemorrhage.