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Severe fetal brain dysgenesis with focal calcification
Author(s) -
Gardner R. J. McKinlay,
Chow C. W.,
Simpson Ian,
Fink A. Michelle,
Meagher Simon E.,
White Susan M.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1152
Subject(s) - dysgenesis , calcification , pathological , medicine , pathology , abnormality , white matter , basal ganglia , fetus , thalamus , calcinosis , magnetic resonance imaging , anatomy , radiology , central nervous system , pregnancy , biology , genetics , psychiatry
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 be a ‘new’ genetically determined, probably autosomal recessive disorder of severe early brain dysgenesis with focal calcification, resembling, but distinct from, certain other clinical genetic entities of which brain calcification is a part. Copyright © 2005 John Wiley & Sons, Ltd.