Frontiers in Pediatrics (May 2022)

Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort

  • Chiara Po',
  • Chiara Po',
  • Chiara Po',
  • Margherita Nosadini,
  • Margherita Nosadini,
  • Marialuisa Zedde,
  • Rosario Pascarella,
  • Giuseppe Mirone,
  • Domenico Cicala,
  • Anna Rosati,
  • Alessandra Cosi,
  • Irene Toldo,
  • Raffaella Colombatti,
  • Paola Martelli,
  • Alessandro Iodice,
  • Patrizia Accorsi,
  • Lucio Giordano,
  • Salvatore Savasta,
  • Thomas Foiadelli,
  • Giuseppina Sanfilippo,
  • Elvis Lafe,
  • Federico Zappoli Thyrion,
  • Gabriele Polonara,
  • Serena Campa,
  • Federico Raviglione,
  • Barbara Scelsa,
  • Stefania Maria Bova,
  • Filippo Greco,
  • Duccio Maria Cordelli,
  • Duccio Maria Cordelli,
  • Luigi Cirillo,
  • Francesco Toni,
  • Valentina Baro,
  • Francesco Causin,
  • Anna Chiara Frigo,
  • Agnese Suppiej,
  • Agnese Suppiej,
  • Laura Sainati,
  • Danila Azzolina,
  • Manuela Agostini,
  • Elisabetta Cesaroni,
  • Luigi De Carlo,
  • Gabriella Di Rosa,
  • Giacomo Esposito,
  • Luisa Grazian,
  • Giovanna Morini,
  • Francesco Nicita,
  • Francesco Nicita,
  • Francesca Felicia Operto,
  • Dario Pruna,
  • Paola Ragazzi,
  • Massimo Rollo,
  • Alberto Spalice,
  • Pasquale Striano,
  • Pasquale Striano,
  • Aldo Skabar,
  • Luigi Alberto Lanterna,
  • Andrea Carai,
  • Carlo Efisio Marras,
  • Renzo Manara,
  • Stefano Sartori,
  • Stefano Sartori,
  • Stefano Sartori,
  • Stefano Sartori

DOI
https://doi.org/10.3389/fped.2022.892445
Journal volume & issue
Vol. 10

Abstract

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BackgroundMoyamoya 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).MethodsWe 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.ResultsA 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 (p = 0.021). Onset age <4 years and stroke before diagnosis were significantly associated with increased risk of intellectual disability (p = 0.0010 and p = 0.0071, respectively) and mRS > 2 at follow-up (p = 0.0106 and p = 0.0009, respectively).ConclusionsMoyamoya 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).

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