Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.

Abstract:

:We report the prenatal ultrasound and magnetic resonance imaging finding of periventricular, large subependymal pseudocysts (SEPCs) in a patient who was later diagnosed as having mitochondrial depletion syndrome (MDS). To our knowledge, this is the first report of fetal SEPCs in a patient with MDS. These findings may provide an important diagnostic tool for prenatal diagnosis of MDS in at risk pregnancies when the gene mutation causing the condition has not been delineated. It may also direct the neonatologist in the postnatal care of the newborn detected prenatally with SEPCs in view of the association of this finding with infection, chromosome abnormalities, metabolic disorders and other abnormalities, when such findings are identified serendipitously. Further research is needed to find if the SEPCs detected in our patient is an association or a coincidental finding.

journal_name

Fetal Diagn Ther

authors

Rohrbach M,Chitayat D,Maegawa G,Shanske S,Davidzon G,Chong K,Clarke JT,Toi A,Tarnopolsky M,Robinson B,Blaser S

doi

10.1159/000209385

subject

Has Abstract

pub_date

2009-01-01 00:00:00

pages

177-82

issue

2

eissn

1015-3837

issn

1421-9964

pii

000209385

journal_volume

25

pub_type

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