Start Submission Become a Reviewer

Reading: A neonate presenting with lactic acidosis, hypotonia, encephalopathy and tubulopathy: Possib...

Download

A- A+
Alt. Display

Case Reports

A neonate presenting with lactic acidosis, hypotonia, encephalopathy and tubulopathy: Possible RRM2Brelated encephalomyopathic mitochondrial DNA depletion syndrome

Authors:

T. Suriapperuma ,

University of Kelaniya, Ragama, LK
About T.
Department of Paediatrics, Faculty of Medicine
X close

C. Weeraratne,

Lady Ridgeway Hospital for Children, Colombo, LK
X close

J. Wanigasinghe

Lady Ridgeway Hospital for Children, Colombo, LK
About J.
Department of Paediatrics, Faculty of Medicine, University of Colombo
X close

Abstract

Mitochondrial disorders (MD) are a group of rare genetic disorders with wide range of phenotypic variations. Mitochondrial DNA depletion syndromes (MDS) are even rarer. The main clinical forms of MDS are myopathic, encephalomyopathic (EM), hepatocerebral and neurogastrointestinal. They are categorized according to clinical features and genetic analysis.

 

We report the 1st Sri Lankan patientpresented during the neonatal period with encephalopathy, hypotonia, neuro developmental delay, tubulopathy, lactic acidosis with elevated methylmalonic acid, ethynylmalonic acid and 3-methyl glutaconic acid in urine. As we were unable to confirm the genetic diagnosis, we categorized our patient according to consensus mitochondrial disease criteria which scored eight and a score between 8-12 is categorized as a definite MD.

 

The presence of tubulopathy with nephrocalcinosis further narrowed down the differential to MDS though an exact genetic diagnosis is not available. Out of four clinical forms of MDS, EM MDS is the most likely diagnosis.
How to Cite: Suriapperuma T, Weeraratne C, Wanigasinghe J. A neonate presenting with lactic acidosis, hypotonia, encephalopathy and tubulopathy: Possible RRM2Brelated encephalomyopathic mitochondrial DNA depletion syndrome. Sri Lanka Journal of Perinatal Medicine. 2022;3(1):25–9. DOI: http://doi.org/10.4038/sljpm.v3i1.39
Published on 12 May 2022.
Peer Reviewed

Downloads

  • PDF (EN)

    comments powered by Disqus