Early manifestation and progressive multicomponent current of McCune–Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review

Abstract

McCune–Albright–Braitsev Syndrome (MAB syndrome) is a very rare multisystem disease manifested by fibrous bone dysplasia, coffee-and-milk colored spots, hyperfunction of various endocrine glands and a number of pathologies of other body systems. We present a description of a clinical case of a severe progressive course of MAB Syndrome in a nine-year-old girl. With this diagnosis, the girl is observation of the girl began when she was 2.5 years old, when spots of coffee-and-milk, polyosseous fibrous dysplasia, peripheral premature sexual development against a backdrop of estrogen-­secreting ovarian cysts, multinodular goiter were detected. In the process of dynamic observation, it was noted that the child’s active growth stopped against a backdrop of deformities of the skeletal system with multiple repeated fractures of the extremities; progression of skull deformity with stenosis of the optic nerve canals and deterioration of visual acuity; development of STH hypersecretion, hypophosphatemic rickets, tachycardia. Appropriate suppressive / replacement therapy was prescribed for each of the endocrine dysfunctions. The article presents algorithms for examining a girl in dynamics, criteria for choosing a component-wise management tactics and a discussion of the features of the course of all manifestations of the Syndrome.