About Williams syndrome. Literature review and case report

The authors present a literature review and their own observation of a 6-year-old child with Williams syndrome, which, however, was not immediately diagnosed. Initially, the child was diagnosed with partial optic nerve atrophy (ONA). The presence of photophobia, normal optic nerve coloration in combination with low visual acuity gave reason to suspect congenital retinal pathology. Based on the obtained data of a comprehensive examination (including the use of visual evoked potentials for a flash and a reversible pattern, testing color vision, etc.), the diagnosis of ONA was exluded and the following diagnosis was made: OU — cone retinal dystrophy, congenital nystagmus. In addition, the boy’s extreme sociability and talkativeness (he constantly demanded attention) attracted attention, although some phrases in the child’s speech were meaningless and unrelated. After retrosclerofilling with Alloplant biomaterial, the patient was discharged with a recommendation to undergo a genetic examination. After examination at the Bochkov N.P. Medical Genetic Center (Moscow), the child was diagnosed with a rare genetic pathology — Williams syndrome.