Врожденный псевдоартроз костей голени и расстройство аутистического спектра у пациента с нейрофиброматозом 1-го типа

Представлен анализ патогенеза заболевания, механизма поражения центральной нервной системы, проанализированы общая клиническая картина нейрофиброматоза 1-го типа, его диагностические критерии, описана специфика когнитивного развития при данном заболевании с упором на нарушения поведения и расстройства аутистического спектра. Представлено описание клинического случая нейрофиброматоза 1-го типа (у мальчика 6 лет 10 мес), в котором, наряду с пятнами кофейного цвета на коже, подкожными фибромами, одним из первых симптомов заболевания был также врожденный ложный сустав костей левой голени. Отсутствие речевого развития и расстройство аутистического спектра были ключевыми проблемами при дальнейшем развитии ребенка.

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