Severe fetal brain dysgenesis with focal calcification.
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.


CONCLUSIONS
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.
Gardner
R J McKinlay
RJ
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. mac.gardner@ghsv.org.au
Chow
C W
CW
Simpson
Ian
I
Fink
A Michelle
AM
Meagher
Simon E
SE
White
Susan M
SM
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology; D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D012720:Severity of Illness Index; D016216:Ultrasonography, Prenatal