Early clinical characteristics according to developmental stage in children with definite moyamoya disease

The objective is to clarify the early clinical characteristics in childhood moyamoya disease (MD). Epidemiologic characteristics, symptoms and diagnostic rates were assessed in 64 children (0–18 years) with definite MD according to developmental stage: infancy (5; 0–1 years); toddlerhood/preschool age (22; 2–5 years); school age (29; 6–10 years); and adolescence (8; 11–18 years). The median ages at onset was 6.25 years and the female to male ratio was 1.9 (⩾2.5 in toddlerhood/preschool age and in adolescence, P = 0.71). Previous headache was observed in 23% (14/64): frequently in school age (38%, P = 0.02) and within 6 months before main symptoms (6/11). As an initial symptom, weakness was observed in 78% (50/64) mainly as transient ischemic attack (TIA, 61%) in limbs (90%) and unilaterally (82%). TIA was less frequent in infancy (40%, P = 0.04). Seizure was observed in 27% (17/64): frequently in infancy (100%, P < 0.01), as the focal type (71%), and in the right extremity (3:1). Isolated seizures without other symptoms was frequent in children ⩽5 years (P < 0.01). Severe headache associated with MD was observed in 14% (9/64). Provoking events were positive in 42% (27/64): in school age, frequently during eating (28%); and in toddlerhood/preschool age, during crying (27%). The diagnostic rates at 3 and 12 months from symptom-onset were 39% (80% during infancy vs. 28% in school age, P = 0.14) and 67%, respectively. Symptomatic progression at diagnosis was observed in 38% (24/64). Initial clinical characteristics in childhood definite MD differed according to developmental stage and from at diagnosis.