Clinical characteristics and long-term outcomes of moyamoya syndrome associated with neurofibromatosis type 1

Moyamoya syndrome (MMS) associated with neurofibromatosis type 1 (NF1) has rarely been reported anywhere in the world, particularly in Asia. Because of the rarity of this disorder, its natural history, clinical symptoms, management, and follow-up findings remain unclear. The objective of this study was to evaluate the clinical presentation, neurological imaging, and long-term outcomes of patients with this disease by reviewing Chinese patients with MMS associated with NF1. A retrospective review was conducted from the moyamoya disease (MMD) and MMS patient database of our hospital. Six patients who were diagnosed with MMS associated with NF1 between January 2003 and October 2013 were identified. The clinical symptoms were transient ischemic attack (TIA, three patients), headache (one patient), intracerebral hemorrhage (one patient), and cerebral infarction (one patient). The mean age of diagnosis for NF1 and MMS was 2.7 ± 2.1 years (range, 1-6 years) and 11.4 ± 8.3 years (range, 3.5-23 years), respectively. Five of six patients (nine hemispheres) underwent revascularization surgery, and their clinical symptoms were stable during a 46.3 ± 36.1 month (range, 18-108 month) follow-up. One non-surgical patient had a new infarct that resulted in visual field deficits during follow-up. Three patients had radiographic follow-up, and the postoperative angiograms showed successful revascularizations in the operated hemispheres. To conclude, the clinical and radiographic features for MMS-NF1 are similar to those of typical MMD. Routine vascular screening for NF1 patients is necessary for the early identification of MMS and other cerebral arteriopathies. Revascularization surgery may prevent the progression of clinical symptoms and reduce the risk of subsequent strokes.