Severe fetal brain dysgenesis with focal calcification

Abstract

Objective: To describe a fetal syndrome of abnormal brain development with intracranial calcification, identified in three successive pregnancies. Methods: Clinical, imaging, and pathological descriptions, and pedigree assessment. Results: All three affected pregnancies were terminated, following imaging diagnosis of brain abnormality. The most complete fetal study, from the third of these pregnancies, showed widespread foci of brain calcification not associated with inflammation, with extensive necrosis and calcification of periventricular white matter, but with sparing of thalamus and basal ganglia. The corticospinal tracts were severely hypoplastic. Conclusion: This condition appears to b..