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.
Cortical deafness is a complete absence of the function providing a person with an ability to perceive audible signal caused by defects of cortical centers of hearing of both cerebral hemispheres. This rare pathology is caused by peculiarities of bilateral organization of hearing in cerebral cortex. The article presents a case of diagnosing cortical deafness confirmed with data of a clinical trial and magnetic resonance imaging (MRI) of the brain. It ought to be observed that accurate diagnosis was provided by prescription of the child's brain MRI despite the absence of specific indications for such an examination.
Обоснование. Данные об эффективности ферментозаместительной терапии (ФЗТ) в отношении патологии ЛОР-органов и показателей дыхания во сне у детей с мукополисахаридозом (МПС) в литературе представлены скудно. Цель исследования -оценить влияние ФЗТ на состояние верхних дыхательных путей у детей с МПС. Методы. По историям болезни изучали результаты лечения детей с МПС I и II типов, получавших ФЗТ в Научном центре здоро-вья детей (ныне ФГАУ« (1,3; 7,7), при повторном исследовании -2,6 (0,9; 13,5) (р=0,507
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