Moyamoya disease in children is a rarely diagnosed entity. Frequent headache is the first symptom of the disease. Headache associated with moya-moya disease (HAMD) is a separated entity reported in the literature. Variants of onset, a spectrum of primary diagnoses and diagnosis verification rate of moyamoya disease in 7 children are presented. A clinical case of moya-moya disease in a 9-year boy, who was primarily diagnosed with migraine with aura, is reported. The results presented by the authors as well as literature data indicate the necessity of using magnetic-resonance angiography in children with headache attacks and focal neurologic symptoms to identify this progressive vascular pathology and timely recommend a surgical treatment.

DNA diagnosis was performed in 5 families (the PMP22 deletion was found in 9 patients). The authors described clinical and electrophysiological characteristics and presented a diagnostic protocol. Identification of the mutation makes it possible to confirm the clinical diagnosis, assess genetic risks for the outcome and perform a prenatal DNA diagnosis in HNPP families.