Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

Shmuel Arnon, Rami Aviram, Tzipora Dolfin, Rivka Regev, Ita Litmanovits, Ronnie Tepper, Orly N. Elpeleg

Research output: Contribution to journalArticlepeer-review

Abstract

We describe two newborn sisters who presented in the third trimester with diminished fetal movements and skin edema, but with no other signs of hydrops fetalis. Within hours of birth, both developed profound lactic acidemia, followed by multi-organ failure. In muscle mitochondria, the activity of all enzymatic complexes that contain mitochondrial DNA (mtDNA)-encoded subunits was markedly decreased. Southern blot analysis revealed a profound reduction in the mtDNA/nuclear DNA ratio, implying mtDNA depletion. The prenatal identification of skin edema in two patients with mtDNA depletion, and its absence in a healthy sibling, suggest that skin edema should be regarded as a novel manifestation of mtDNA depletion. This finding shows that mtDNA depletion can present prenatally and, consequently, may aid the clinician in making a diagnosis, prenatally, of this genetic defect.

Original languageEnglish
Pages (from-to)34-37
Number of pages4
JournalPrenatal Diagnosis
Volume22
Issue number1
DOIs
StatePublished - 2002

Keywords

  • Fetal skin edema
  • Mitochondrial depletion
  • Prenatal diagnosis

Fingerprint

Dive into the research topics of 'Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth'. Together they form a unique fingerprint.

Cite this