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

M. Rohrbach, D. Chitayat, G. Maegawa, S. Shanske, G. Davidzon, K. Chong, J. T.R. Clarke, A. Toi, M. Tarnopolsky, B. Robinson, S. Blaser

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)177-182
Number of pages6
JournalFetal Diagnosis and Therapy
Volume25
Issue number2
DOIs
StatePublished - Aug 2009

Keywords

  • Brain pseudocyst
  • Fetal magnetic resonance imaging
  • Mitochondrial depletion
  • Prenatal ultrasound

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Radiology Nuclear Medicine and imaging
  • Obstetrics and Gynecology

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