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Ethylmalonic encephalopathy masquerading as meningococcemia.

Ari Horton1,2,3,4, Kai Mun Hong5, Dinusha Pandithan6

  • 1Monash Genetics, Monash Health, Melbourne, Victoria, Australia.

Cold Spring Harbor Molecular Case Studies
|February 15, 2022
PubMed
Summary

Ethylmalonic encephalopathy, a rare genetic disorder, can mimic severe infections. Rapid genomic testing is crucial for early diagnosis and precise treatment of this metabolic crisis.

Keywords:
acrocyanosisankle clonuscentral hypotoniacerebral ischemiadelayed fine motor developmentdelayed gross motor developmentethylmalonic aciduriapetechiaeprogressive encephalopathyrecurrent cerebral hemorrhage

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Ethylmalonic encephalopathy is a rare autosomal recessive metabolic disorder.
  • It is caused by biallelic variants in the ETHE1 gene.
  • Clinical features include global developmental delay, hypotonia, seizures, and microvascular damage.

Purpose of the Study:

  • To describe a case of ethylmalonic encephalopathy presenting as meningococcal septicemia.
  • To highlight the utility of ultrarapid whole-genome testing in diagnosing rare genetic conditions.
  • To emphasize the importance of considering genetic diagnoses in atypical presentations.

Main Methods:

  • Case report of a patient with ethylmalonic encephalopathy.
  • Ultrarapid whole-genome sequencing (60-hour turnaround time).
  • Biochemical analysis.

Main Results:

  • The patient's presentation mimicked meningococcal septicemia and shock.
  • Rapid genomic and biochemical testing enabled accurate diagnosis.
  • Precision treatment was initiated promptly for the metabolic crisis.

Conclusions:

  • Rare genetic disorders like ethylmalonic encephalopathy can present with atypical features mimicking common conditions.
  • Prompt biochemical and genomic diagnosis is essential for effective management.
  • Early consideration of genetic diagnoses is critical for patients with unusual symptoms.