Header

UZH-Logo

Maintenance Infos

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


Rohrbach, M; Chitayat, D; Maegawa, G; Shanske, S; Davidzon, G; Chong, K; Clarke, J T R; Toi, A; Tarnopolsky, M; Robinson, B; Blaser, S (2009). Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence. Fetal Diagnosis and Therapy, 25(2):177-182.

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.

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.

Statistics

Citations

9 citations in Web of Science®
10 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

13 downloads since deposited on 13 Jan 2010
7 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2009
Deposited On:13 Jan 2010 13:27
Last Modified:07 Jul 2016 06:30
Publisher:Karger
ISSN:1015-3837
Publisher DOI:https://doi.org/10.1159/000209385
PubMed ID:19321960

Download

Download PDF  'Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence'.
Preview
Content: Published Version
Filetype: PDF
Size: 222kB
View at publisher