Objective: To characterize moyamoya (MM) phenomenon, including both moyamoya disease (MMD; isolated moyamoya) and moyamoya syndrome (MMS; moyamoya associated with another condition) in a nationwide pediatric cohort. Methods: Retrospective chart and radiological review of children with MM referred to Italian centers belonging to the Italian Society of Pediatric Neurology. Results: 39 patients from 15 centers were included (51% males). Race: white in 33, Asian in 4, African in 1. 17 patients had MMD, 22 MMS. Among MMD patients, 17/17 were symptomatic at diagnosis. Mean age at onset was 4.2 years (range 0.5e10 years; 35% < 2 years). Mean time from onset to diagnosis was 13 months. Symptoms at diagnosis: 15 ischemic events, 3 seizures, 5 headache, 1 movement disorder (10/17 > 1 symptom). 5/17 patients had posterior involvement. At follow-up, 5 had radiological disease progression; 13/17 underwent neurosurgery; 12/17 had neurological impairments (5 cognitive, 4 motor, 3 both). Among MMS patients (etiologies: genetic, infectious, hematologic, endocrine disorders, radiotherapy), 17/22 were symptomatic at diagnosis.Mean age at onset was 4.7 years (range 1.2e14.6; 40% < 2 years), mean time from onset to diagnosis was 2.5 years, symptoms at diagnosis: 15 ischemic events (12 stroke), 6 focal seizures, 1 headache, 1 movement disorder (12/17 more than 1 symptom). Posterior involvement in 7/20. At follow-up (21/22), 6 had radiological disease progression, 15/21 underwent neurosurgery, and 15/21 had neurological impairment (7 severe multifactorial deficits). Conclusion: Compared with other pediatric series, our cohort is characterized by lower age at onset, and minor diagnostic delay. Age and symptoms at onset, acute and chronic morbidity are similar in MMD and MMS. Probably due to the effect of the associated condition, patients with MMS present a greater proportion of severe deficits at follow-up.
Pediatric moyamoya disease and syndrome in Italy: Data from the Italian Society of Pediatric Neurology multicentric retrospective study
A. SuppiejConceptualization
;
2017
Abstract
Objective: To characterize moyamoya (MM) phenomenon, including both moyamoya disease (MMD; isolated moyamoya) and moyamoya syndrome (MMS; moyamoya associated with another condition) in a nationwide pediatric cohort. Methods: Retrospective chart and radiological review of children with MM referred to Italian centers belonging to the Italian Society of Pediatric Neurology. Results: 39 patients from 15 centers were included (51% males). Race: white in 33, Asian in 4, African in 1. 17 patients had MMD, 22 MMS. Among MMD patients, 17/17 were symptomatic at diagnosis. Mean age at onset was 4.2 years (range 0.5e10 years; 35% < 2 years). Mean time from onset to diagnosis was 13 months. Symptoms at diagnosis: 15 ischemic events, 3 seizures, 5 headache, 1 movement disorder (10/17 > 1 symptom). 5/17 patients had posterior involvement. At follow-up, 5 had radiological disease progression; 13/17 underwent neurosurgery; 12/17 had neurological impairments (5 cognitive, 4 motor, 3 both). Among MMS patients (etiologies: genetic, infectious, hematologic, endocrine disorders, radiotherapy), 17/22 were symptomatic at diagnosis.Mean age at onset was 4.7 years (range 1.2e14.6; 40% < 2 years), mean time from onset to diagnosis was 2.5 years, symptoms at diagnosis: 15 ischemic events (12 stroke), 6 focal seizures, 1 headache, 1 movement disorder (12/17 more than 1 symptom). Posterior involvement in 7/20. At follow-up (21/22), 6 had radiological disease progression, 15/21 underwent neurosurgery, and 15/21 had neurological impairment (7 severe multifactorial deficits). Conclusion: Compared with other pediatric series, our cohort is characterized by lower age at onset, and minor diagnostic delay. Age and symptoms at onset, acute and chronic morbidity are similar in MMD and MMS. Probably due to the effect of the associated condition, patients with MMS present a greater proportion of severe deficits at follow-up.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
