Metabolic Brain Disease

, Volume 33, Issue 3, pp 977–979 | Cite as

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency

  • Fatma Derya Bulut
  • Deniz Kör
  • Berna Şeker-Yılmaz
  • Gülen Gül-Mert
  • Sebile Kılavuz
  • Neslihan Önenli-Mungan
Short Communication
  • 83 Downloads

Abstract

Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.

Keywords

Ethylmalonic encephalopathy Acrocyanosis Short chain acyl-CoA dehydrogenase deficiency C4 and C5 acylcarnitines 

Notes

Acknowledgements

There are no financial supports needed for this publication.

Compliance with ethical standards

Human and animal rights

Because the patient is a minor, informed consent from the parents are taken. Also, ethical approval was taken on 07.07.2017. The ethical committee members were Selim Kadıoğlu, Davut Alptekin, Dinçer Yıldızdaş, Mehmet Kanadaşı, Gülşah Şeydaoğlu and Murat Gündüz.

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the patient’s parents.

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2017

Authors and Affiliations

  1. 1.Department of Pediatric Metabolism and NutritionÇukurova UniversityAdanaTurkey
  2. 2.Adana Numune Teaching and Research HospitalAdanaTurkey
  3. 3.Mersin Devlet HastanesiMersinTurkey

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