Neuropediatrics 2017; 48(06): 456-462
DOI: 10.1055/s-0037-1601867
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

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

Nesia Kropach1, 2, *, Vered Shkalim-Zemer2, 3, *, Naama Orenstein2, 4, *, Oded Scheuerman1, 2, Rachel Straussberg2, 5
  • 1Department of Pediatrics B, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
  • 2Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
  • 3Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
  • 4Department of Genetics, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
  • 5Department of Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel
Further Information

Publication History

05 December 2016

10 March 2017

Publication Date:
08 May 2017 (eFirst)

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.

* The authors Nesia Kropach, Vered Shkalim-Zemer, and Naama Orenstein have contributed equally to the work.