Po' Chiara, Nosadini Margherita, Zedde Marialuisa, Pascarella Rosario, Mirone Giuseppe, Cicala Domenico, Rosati Anna, Cosi Alessandra, Toldo Irene, Colombatti Raffaella, Martelli Paola, Iodice Alessandro, Accorsi Patrizia, Giordano Lucio, Savasta Salvatore, Foiadelli Thomas, Sanfilippo Giuseppina, Lafe Elvis, Thyrion Federico Zappoli, Polonara Gabriele, Campa Serena, Raviglione Federico, Scelsa Barbara, Bova Stefania Maria, Greco Filippo, Cordelli Duccio Maria, Cirillo Luigi, Toni Francesco, Baro Valentina, Causin Francesco, Frigo Anna Chiara, Suppiej Agnese, Sainati Laura, Azzolina Danila, Agostini Manuela, Cesaroni Elisabetta, De Carlo Luigi, Di Rosa Gabriella, Esposito Giacomo, Grazian Luisa, Morini Giovanna, Nicita Francesco, Operto Francesca Felicia, Pruna Dario, Ragazzi Paola, Rollo Massimo, Spalice Alberto, Striano Pasquale, Skabar Aldo, Lanterna Luigi Alberto, Carai Andrea, Marras Carlo Efisio, Manara Renzo, Sartori Stefano
Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padova, Italy.
Department of Women's and Children's Health, University of Padova, Padova, Italy.
Front Pediatr. 2022 May 6;10:892445. doi: 10.3389/fped.2022.892445. eCollection 2022.
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).
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.
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 significantly higher in patients with symptMMD/MMS than in patients with incMMS ( = 0.021). Onset age <4 years and stroke before diagnosis were significantly associated with increased risk of intellectual disability ( = 0.0010 and = 0.0071, respectively) and mRS > 2 at follow-up ( = 0.0106 and = 0.0009, respectively).
Moyamoya is a severe condition that may affect young children and frequently cause cerebrovascular events throughout the disease course, but may also manifest with multiple and non-cerebrovascular clinical phenotypes including headache (isolated or associated with other manifestations), seizures, and movement disorder. Younger onset age and stroke before diagnosis may associate with increased risk of worse outcome (final mRS > 2).
烟雾病是一种罕见的进行性脑动脉病，可作为一种孤立现象出现（烟雾病，MMD）或与其他疾病相关（烟雾综合征，MMS），占所有儿童中风和短暂性脑缺血发作（TIA）的6% - 10%。
我们对意大利儿童期发病的MMD/MMS进行了一项回顾性多中心研究，以描述欧洲一个国家该疾病的表现、病程、管理、神经放射学及结局。
共纳入65例MMD（27例）或MMS（38例）患者（34例女性/65例）。约18%（12/65）的患者无症状，在因潜在疾病进行检查时偶然诊断（incMMS），而82%（53/65）的MMD或MMS患者因存在神经症状而被诊断（symptMMD/MMS）。在后者中，诊断前，66%（43/65）的患者发生过脑血管事件，伴或不伴有其他表现（缺血性中风42%，27/65；TIA 32%，21/65；无出血性中风），18%（12/65）的患者报告有头痛（其中4例头痛与任何其他表现无关），26%（17/65）的患者经历过多种表型（中风/TIA/癫痫/头痛/其他中≥2种）。神经放射学检查显示，67%（39/58）的患者有≥1个缺血性病变，51%（30/58）的患者有后循环受累。约73%（47/64）的患者接受了手术，69%（45/65）的患者接受了阿司匹林治疗，但诊断后，20%（12/61）的患者发生了进一步的中风事件，包括接受手术的患者（11%，5/47）。从症状发作到最后一次随访，中风的总体患者年发病率为10.26%（95%置信区间7.58 - 13.88%）。在最后一次随访时（诊断后中位4年，范围0.5 - 15年），43%（26/61）的患者有运动功能障碍，31%（19/61）的患者有智力残疾，13%（8/61）的患者有癫痫，11%（7/61）的患者有行为问题，25%（13/52）的患者改良Rankin量表评分（mRS）>2。symptMMD/MMS患者最终mRS>2的比例显著高于incMMS患者（P = 0.021）。发病年龄<4岁和诊断前中风与智力残疾风险增加（分别为P = 0.0010和P = 0.0071）以及随访时mRS>2显著相关（分别为P = 0.0106和P = 0.0009）。
烟雾病是一种严重疾病，可能影响幼儿，并在整个病程中频繁导致脑血管事件，但也可能表现为多种非脑血管临床表型，包括头痛（孤立或与其他表现相关）、癫痫和运动障碍。发病年龄较小和诊断前中风可能与更差结局（最终mRS>2）的风险增加相关。
