Fetal and pediatric pathology · 2024
Cornelia de Lange Syndrome: Expanding the Neuropathological Spectrum and Clinical Correlations.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Della Giustina Elvio, Salviato Tiziana, Caramaschi Stefania, Fabbiani Luca, Reggiani Bonetti Luca
Аннотация
OBJECTIVES: Reporting new neuropathological findings and clinicopathological correlations in Cornelia de Lange syndrome.
METHODS AND RESULTS: Cornelia de Lange syndrome has received much attention for its genetics, biochemistry, clinical approach and management, but neuropathological studies are extremely rare. Diffuse hypoplasia of the entire brain, mainly affecting the frontal cortex and, less frequently, the cerebellum, has long been the paradigm for neuropathological findings in rare affected patients. This comprehensive neuropathological study of an affected newborn demonstrates nerve cell heterotopies, poor periventricular matrix and significant hypoplasia of both hippocampi, while Golgi staining of cerebellar tissue samples shows features of nerve cell immaturity.
CONCLUSIONS: The importance of Cornelia de Lange syndrome as a cohesinopathy and some new neuropathological findings provide an opportunity to discuss and establish interesting clinicopathological correlations, especially with regard to the global intellectual disability of these patients.
METHODS AND RESULTS: Cornelia de Lange syndrome has received much attention for its genetics, biochemistry, clinical approach and management, but neuropathological studies are extremely rare. Diffuse hypoplasia of the entire brain, mainly affecting the frontal cortex and, less frequently, the cerebellum, has long been the paradigm for neuropathological findings in rare affected patients. This comprehensive neuropathological study of an affected newborn demonstrates nerve cell heterotopies, poor periventricular matrix and significant hypoplasia of both hippocampi, while Golgi staining of cerebellar tissue samples shows features of nerve cell immaturity.
CONCLUSIONS: The importance of Cornelia de Lange syndrome as a cohesinopathy and some new neuropathological findings provide an opportunity to discuss and establish interesting clinicopathological correlations, especially with regard to the global intellectual disability of these patients.