AGAIN ABOUT MASKS FOR MYOPATHIC SYNDROME IN CHILDREN

Oshlyanska O.A.¹, Nadtochiy T.G.², Yats K.A.²

• ¹Shupyk National Healthcare University of Ukraine
• ²SI “Ukrainian Center of Мaternity and Childhood of the National Academy of Medical Sciences of Ukraine”, Kyiv

Summary. The article describes a complex clinical case of a 12-year-old boy with an atypical course of myopathic syndrome, presenting with multisystem symptoms including muscle weakness, skin manifestations, growth retardation, signs of systemic inflammation, polyendocrinopathy, and gastrointestinal involvement. The diagnostic process was complicated by the multifaceted clinical presentation, the absence of a typical increase in CPK levels, a mixed autoantibody profile, and the family’s low adherence to medical evaluation. The final diagnosis was established based on the correlation of clinical features and genetic testing results.