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

Area of Science:

• Neurology
• Pediatrics
• Vascular Neurology

Background:

• Moyamoya disease (MD) is a rare, progressive cerebrovascular disorder characterized by stenosis of the terminal internal carotid arteries and development of collateral vessels.
• Understanding the early clinical manifestations of pediatric MD is crucial for timely diagnosis and intervention.
• Clinical presentation in children can differ significantly from adults and may vary based on developmental stage.

Purpose of the Study:

• To elucidate the early clinical characteristics of childhood moyamoya disease (MD).
• To analyze how these characteristics differ across various developmental stages in children.
• To assess diagnostic rates and symptom progression at the time of diagnosis.

Main Methods:

• A retrospective analysis of 64 children (0-18 years) diagnosed with definite MD.
• Children were categorized into developmental stages: infancy, toddler/preschool, school age, and adolescence.
• Data collected included demographic information, presenting symptoms, provoking events, diagnostic timelines, and symptomatic progression.

Main Results:

• The median age of onset was 6.25 years, with a female predominance (1.9:1).
• Weakness, primarily as unilateral transient ischemic attacks (TIAs) in limbs, was the most common initial symptom (78%), less frequent in infancy.
• Seizures occurred in 27%, predominantly in infants (100%) as focal seizures; headache was more common in school-aged children.

Conclusions:

• Early clinical presentation of childhood moyamoya disease is diverse and significantly influenced by the child's developmental stage.
• Transient ischemic attacks (TIAs) and weakness are key initial symptoms, while seizures are particularly indicative in infancy.
• Diagnostic rates at 3 and 12 months were 39% and 67%, respectively, highlighting the need for increased awareness and earlier detection.