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. 2024 Feb 28;70(1):100-104.
doi: 10.14341/probl13280.

[Preclinical diagnostics of von Hippel-Lindau syndrome in a child]

[Article in Russian]
O A Malievskiy  1 , R I Malievskaya  1 , V A Malievskiy  1 , A N Tulpakov  2
Affiliations

[Preclinical diagnostics of von Hippel-Lindau syndrome in a child]

[Article in Russian]
O A Malievskiy et al. Probl Endokrinol (Mosk). .

Abstract
in English, Russian

The description of the child aged 5 months with the von Hippel-Lindau syndrome without any manifestations of this syndrome is presented. The reason for the molecular genetic examination was the presence of cases of this syndrome in the family (mother and sister). The heterozygous variant c.355T>C p.F119L was found in the VHL gene. An objective examination revealed no pathology. A comprehensive laboratory and instrumental examination aimed at searching for components of the von Hippel-Lindau syndrome, including a blood test for metanephrines and normetanephrines, ultrasound of the abdominal organs, examination of the fundus, also did not reveal any abnormalities. Given the results of molecular genetic diagnosis, the child remains under observation and will undergo regular examinations to identify components of the von Hippel-Lindau syndrome, including blood/urine tests for normetanephrines.

Представлено описание случая диагностики синдрома фон Хиппеля-Линдау у ребенка в возрасте пяти месяцев, не имеющего каких-либо проявлений данного заболевания. Поводом для молекулярно-генетического обследования стало наличие случаев данного синдрома в семье (мама и сестра). В гене VHL был выявлен гетерозиготный вариант c.355T>C p.F119L. При объективном обследовании со стороны внутренних органов патологии не выявлено. Комплексное лабораторно-инструментальное обследование, направленное на поиск компонентов синдрома фон Хиппеля-Линдау, в том числе анализ крови на метанефрины и норметанефрины, УЗИ органов брюшной полости, осмотр глазного дна, также не выявило каких-либо отклонений. Учитывая результаты молекулярно-генетической диагностики, ребенок остается под наблюдением и будет проходить регулярное обследование с целью выявления компонентов синдрома фон Хиппеля-Линдау, включая анализы крови/мочи на норметанефрины.

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