| Contributors: |
Po', C; Nosadini, M; Zedde, M; Pascarella, R; Mirone, G; Cicala, D; Rosati, A; Cosi, A; Toldo, I; Colombatti, R; Martelli, P; Iodice, A; Accorsi, P; Giordano, L; Savasta, S; Foiadelli, T; Sanfilippo, G; Lafe, E; Thyrion, Fz; Polonara, G; Campa, S; Raviglione, F; Scelsa, B; Bova, Sm; Greco, F; Cordelli, Dm; Cirillo, L; Toni, F; Baro, V; Causin, F; Frigo, Ac; Suppiej, A; Sainati, L; Azzolina, D; Agostini, M; Cesaroni, E; De Carlo, L; Di Rosa, G; Esposito, G; Grazian, L; Morini, G; Nicita, F; Operto, Ff; Pruna, D; Ragazzi, P; Rollo, M; Spalice, A; Striano, P; Skabar, A; Lanterna, La; Carai, A; Marras, Ce; Manara, R; Sartori, S. |
| Description: |
Background: Moyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6-10% of all childhood strokes and transient ischemic attacks (TIAs). Methods: We conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country. Results: A total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. About 18% (12/65) of patients were asymptomatic and diagnosed incidentally during investigations performed for an underlying condition (incMMS), whereas 82% (53/65) of patients with MMD or MMS were diagnosed due to the presence of neurological symptoms (symptMMD/MMS). Of these latter, before diagnosis, 66% (43/65) of patients suffered from cerebrovascular events with or without other manifestations (ischemic stroke 42%, 27/65; TIA 32%, 21/65; and no hemorrhagic strokes), 18% (12/65) of them reported headache (in 4/12 headache was not associated with any other manifestation), and 26% (17/65) of them experienced multiple phenotypes (≥2 among: stroke/TIA/seizures/headache/others). Neuroradiology disclosed ≥1 ischemic lesion in 67% (39/58) of patients and posterior circulation involvement in 51% (30/58) of them. About 73% (47/64) of patients underwent surgery, and 69% (45/65) of them received aspirin, but after diagnosis, further stroke events occurred in 20% (12/61) of them, including operated patients (11%, 5/47). Between symptom onset and last follow-up, the overall patient/year incidence of stroke was 10.26% (IC 95% 7.58-13.88%). At last follow-up (median 4 years after diagnosis, range 0.5-15), 43% (26/61) of patients had motor deficits, 31% (19/61) of them had intellectual disability, 13% (8/61) of them had epilepsy, 11% (7/61) of them had behavioral problems, and 25% (13/52) of them had mRS > 2. The proportion of final mRS > 2 was ... |