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 2017-11-18  Case of the week # 459  © Elena Andreeva
Answer to the case of the week # 459
November 23, 2017 - December 7, 2017

Elena Andreeva, PhD
 , N. Odegova, MD.

Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia.

Case report

A 18-year-old (G1P0) woman was referred to our hospital at 21 weeks of gestation because of a suspected anencephaly identified during a routine ultrasound examination. The patient and her husband’s medical records were unremarkable.

Ultrasound examination was repeated in our hospital and revealed severe microcephaly and absence normal anatomy of brain. Skull bones were extremely thick without defects. Face looked like as anencephaly face.

The parent opted for termination of the pregnancy.

The final diagnosis was atelencephalic microcephaly, which is a lethal form of abnormal cerebral development. In atelencephaly there is a rudimentary prosencephalon; in aprosencephaly, a more severe form of cerebral malformation, both prosencephalic and diencephalic derivatives fail to develop; both conditions form the aprosencephaly/atelencephaly spectrum (AAS).


Images 1-7: 2D and 3D images showing severe microcephaly and abnormal brain anatomy.


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