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Intracerebral Periventricular Pseudocysts in a...
Journal article

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 …

Authors

Rohrbach M; Chitayat D; Maegawa G; Shanske S; Davidzon G; Chong K; Clarke JTR; Toi A; Tarnopolsky M; Robinson B

Journal

Fetal Diagnosis and Therapy, Vol. 25, No. 2, pp. 177–182

Publisher

Karger Publishers

Publication Date

2009

DOI

10.1159/000209385

ISSN

1015-3837