Peculiarities of diagnostics and management of a child with CHARGE syndrome

Abstract

The article presents a clinical observation of a 27-month-old child with CHARGE syndrome established according to the results of molecular genetic diagnostics, describes the difficulties of managing this patient, which required a multidisciplinary approach and the participation of doctors of various specialties. The literature data with the characteristics of the symptoms inherent in a rarely diagnosed genetic disease—CHARGE syndrome—are presented. The name of the syndrome is based on the abbreviation of terms that define characteristic congenital malformations: C = coloboma (splitting of the iris, retina, choroid, optic disc); H = heart defects; A = atresia of the choanae; R = retardation of growth and development; G = genital hypoplasia; and E = ear malformations. The peculiarity of the presented clinical case is the need for an extended diagnosis of CHARGE syndrome manifested by bilateral coloboma of the choroid, the optic disc on the left; right-sided hemiparesis of the facial nerve; bulbar-pseudobulbar disorders; cryptorchidism; growth retardation, psychomotor and psycho-speech development; bilateral anomaly in the development of the middle and inner ear (bilateral semicircular canal dysplasia, cochlear-vestibular nerve aplasia); bilateral profound sensorineural hearing loss; multicystic right kidney. The child is a carrier of a tracheostomy, gastrostomy.