Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature

Nesia Kropach*, Vered Shkalim-Zemer, Naama Orenstein, Oded Scheuerman, Rachel Straussberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal encephalomyopathy and a novel mutation in the RRM2B gene. The relevant literature is reviewed. Methods We describe two brothers aged 2.5 months and 1 month, respectively, who were hospitalized in a tertiary pediatric medical center for evaluation of focal seizures, hypotonia, poor feeding, failure to thrive, lactic acidosis, and developmental delay. The older brother also had seizures, and the younger had severe bilateral neurosensory deafness. Results Genetic sequencing of the RRM2B gene revealed the same novel mutation in both the siblings. Both children died due to respiratory failure at ages 3 and 2.5 months, respectively. Conclusion The combination of neonatal hypotonia, developmental delay, and lactic acidosis should raise a clinician's suspicion of a mitochondrial depletion disorder and prompt further genetic studies.

Original languageEnglish
Pages (from-to)456-462
Number of pages7
JournalNeuropediatrics
Volume48
Issue number6
DOIs
StatePublished - 1 Dec 2017

Keywords

  • RRM2B gene mutation
  • deafness
  • elevated lactate
  • hypotonia
  • seizures
  • tubulopathy

Fingerprint

Dive into the research topics of 'Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature'. Together they form a unique fingerprint.

Cite this