Surgical Treatment for Patients with Moyamoya Syndrome and Type 1 Neurofibromatosis.

INTRODUCTION: The current study describes the impact of surgery in preventing follow-up ipsilateral transient ischemic attacks (TIAs)/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1).

METHODS: We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990-2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected and compared between a revascularization group (group 1) and a conservatively managed group (group 2) on a per-hemisphere basis.

RESULTS: A total of 9 patients (14 hemispheres) were included in our study. The average age of all patients at NF1 diagnosis was 2.1 ± 7.7 years, with 6 being female (66.7%). The average age of all patients at MMS diagnosis was 10.4 ± 16.6 years with the median age being 7.7 years (range: 4.1-27.0 years). Race distribution was: White (n = 4, 44.4%), Black (n = 3, 33.3%), and Asian (n = 2, 22.2%). Four patients (44.5%) experienced cerebrovascular manifestations of MMS before MMS diagnosis. Group 1 was younger at MMS diagnosis (P = 0.009), likely with a more acute symptom onset (P = 0.077). Management strategies were: pial synangiosis (n = 3, 21.4%) and conservative (n = 11, 78.6%). During an average follow-up period of 6.28 ± 2.0 years, no ipsilateral TIAs/strokes were observed for group 1; conversely, 2 ipsilateral TIAs (18.2%) and 2 ipsilateral strokes (18.2%) occurred in group 2.

CONCLUSIONS: In our study of non-Asian patients with MMS-NF1, revascularization reduced stroke recurrence and deterioration of symptoms. However, more studies are warranted to further explore the role of revascularization procedures given the rarity of this disease combination.