СИНДРОМ КЕЛЛИ–СИГМИЛЛЕРА: ОПИСАНИЕ КЛИНИЧЕСКОГО НАБЛЮДЕНИЯ И ОБЗОР ЛИТЕРАТУРЫ

Abstract

Kelley-Seegmiller syndrome (KSS) is a hereditary recessive X-linked disease based on a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase that leads to impaired purine metabolism, which - in its turn - causes the development of gout in early childhood and the formation of neurological symptoms. The scientific literature represents an insufficient number of clinical cases of KSS described to date, most of which are characterized by the delayed diagnosis verification. The main reason for this may be the lack of information about this orphan disease. The article presents a rare clinical case observation of the development of KSS with mental retardation and the onset of gout and arthritis in early childhood and discusses the characteristic symptoms of the disease as well as the methods for its diagnosis and therapy.