Prenatal diagnosis · 2005
Frontal bilateral megalencephaly: fetal and autopsy MR evaluation of an unclassified malformation.
Клинический случайСтатьяНазвание 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.
Parazzini Cecilia, Righini Andrea, Lalatta Faustina, Bianchini Elena, Triulzi Fabio
Аннотация
OBJECTIVE: To describe an unreported brain malformation with in utero onset.
METHODS: A 21-weeks-of-gestational-age fetus underwent prenatal MR imaging because of macrocephaly detected by ultrasound. Prenatal MR imaging revealed a complex brain malformation. At 22 weeks of GA, pregnancy was terminated; an MR autopsy study was also performed.
RESULTS: MR imaging revealed frontal bilateral megalencephaly and malformation of cortical development, suggesting polymicrogyria. These findings do not fit into any of the known megalencephalic syndromes.
CONCLUSIONS: To our knowledge, this is a previously unreported malformation. Fetal and autoptic MR examination have been the best tools in understanding this complex brain pathology, allowing a more complete genetic counseling.
METHODS: A 21-weeks-of-gestational-age fetus underwent prenatal MR imaging because of macrocephaly detected by ultrasound. Prenatal MR imaging revealed a complex brain malformation. At 22 weeks of GA, pregnancy was terminated; an MR autopsy study was also performed.
RESULTS: MR imaging revealed frontal bilateral megalencephaly and malformation of cortical development, suggesting polymicrogyria. These findings do not fit into any of the known megalencephalic syndromes.
CONCLUSIONS: To our knowledge, this is a previously unreported malformation. Fetal and autoptic MR examination have been the best tools in understanding this complex brain pathology, allowing a more complete genetic counseling.