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Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies

Received: 10 April 2021     Accepted: 23 April 2021     Published: 30 April 2021
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Abstract

Background: The pyruvate dehydrogenase (PDH) complex is essential in the glycolytic conversion of pyruvate to acetyl-CoA. This reaction helps yield adenosine triphosphate (ATP) – a source for energy. Hence, PDH deficiency will lead to metabolic dysfunction. Case: The case report at hand unearths the perplexing presentation of two genetically predisposed Emirati siblings that were found to be thiamine responsive. Both patients complained of a variety of symptoms at the same age following an episode of gastritis. They undergo extensive laboratory tests and imaging and are initially diagnosed with non-alcoholic Wernicke encephalopathy (WE). Objective: It has come to our attention that this rapidly debilitating condition demonstrates a constellation of seemingly incongruent gastrointestinal and neuropsychiatric manifestations. It is imperative that the peculiarities of this disease be recognized. Because PDH deficiency does not conform to defined diagnostic criteria outlined in evidence-based guidelines, treatment is likely to be delayed. Method: A careful retrospective scrutiny of the patients’ initial presentation and peculiar hospital course encourages identification of our limitations in providing efficacious quality care and in hopes of devising a systematic approach for future encounters. Conclusion: Any patient presenting to the emergency department with prolonged vomiting or diarrhea, for example, should be given thiamine as it is safe, inexpensive and may be lifesaving. We herein report two patients with indistinct, yet similar, signs and symptoms.

Published in Clinical Neurology and Neuroscience (Volume 5, Issue 2)
DOI 10.11648/j.cnn.20210502.13
Page(s) 18-20
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2021. Published by Science Publishing Group

Keywords

Pyruvate Dehydrogenase Deficiency, Thiamine, Wernicke Encephalopathy

References
[1] MedLinePlus. 2021. PDHB gene. [online] Available at: [Accessed 22 April 2021].
[2] Ebertowska, A., Ludkiewicz, B., Klejbor, I., Melka, N. and Moryś, J., 2021. Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment. [online] PubMed.gov. Available at: [Accessed 28 April 2021].
[3] 2021. Thiamine deficiency and its prevention and control in major emergencies. World Health Organization, United Nations High Commissioner for Refugees.
[4] National Institutes of Health: Office of Dietary Supplements. 2018. Thiamin. [online] Available at: https://ods.od.nih.gov/factsheets/Thiamin-HealthProfessional/. [Accessed 22 April 2021].
[5] Ota, Y., Capizzano, A., Moritani, T., Naganawa, S., Kurokawa, R. and Srinivasan, A., 2021. Comprehensive review of Wernicke encephalopathy: pathophysiology, clinical symptoms and imaging findings. [online] SpringerLink. Available at: [Accessed 22 April 2021].
[6] Pavlu-Pereira, H., Silva, M., Florindo, C., Sequeira, S., Ferreira, A., Duarte, S., Rodrigues, A., Janeiro, P., Oliveira, A., Gomes, D., Bandeira, A., Martins, E., Gomes, R., Soares, S., de Almeida, I., Vicente, J. and Rivera, I., 2021. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients. [online] BMC. Available at: [Accessed 28 April 2021].
[7] Chandrakumar, A., Bhardwaj, A. and W. ‘t Jong, G., 2021. Review of thiamine deficiency disorders: Wernicke encephalopathy and Korsakoff psychosis. [online] De Gruyter. Available at: [Accessed 22 April 2021].
[8] Galvin, R., Bråthen, G., Ivashynka, A., Hillbom, M., Tanasescu, R. and A. Leone, M., 2021. EFNS guidelines for diagnosis, therapy and prevention of Wernicke encephalopathy. [online] Wiley Online Library. Available at: [Accessed 22 April 2021].
[9] Pacei, F., Tesone, A., Laudi, N., Laudi, E., Cretti, A., Pnini, S., Varesco, F. and Colombo, C., 2021. The Relevance of Thiamine Evaluation in a Practical Setting. [online] NCBI. Available at: [Accessed 22 April 2021].
[10] Genetic and Rare Diseases Information Center. 2018. Pyruvate dehydrogenase complex deficiency. [online] Available at: https://rarediseases.info.nih.gov/diseases/7513/pyruvate-dehydrogenase-complex-deficiency. [Accessed 22 April 2021].
[11] Ganesh, R., Suresh, N., Vasuki, B. and Narayanan, K., 2021. Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant. [online] SpringerLink. Available at: [Accessed 28 April 2021].
[12] Martinez-Ramirez, D., Walker, R., Rodríguez-Violante, M. and Gatto, E., 2021. Review of Hereditary and Acquired Rare Choreas. [online] NCBI. Available at: [Accessed 22 April 2021].
Cite This Article
  • APA Style

    Mariam Hassan, Ali Hassan, Ahmed Shatila, Sudhir Kumar Chirakarra. (2021). Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies. Clinical Neurology and Neuroscience, 5(2), 18-20. https://doi.org/10.11648/j.cnn.20210502.13

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    ACS Style

    Mariam Hassan; Ali Hassan; Ahmed Shatila; Sudhir Kumar Chirakarra. Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies. Clin. Neurol. Neurosci. 2021, 5(2), 18-20. doi: 10.11648/j.cnn.20210502.13

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    AMA Style

    Mariam Hassan, Ali Hassan, Ahmed Shatila, Sudhir Kumar Chirakarra. Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies. Clin Neurol Neurosci. 2021;5(2):18-20. doi: 10.11648/j.cnn.20210502.13

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  • @article{10.11648/j.cnn.20210502.13,
      author = {Mariam Hassan and Ali Hassan and Ahmed Shatila and Sudhir Kumar Chirakarra},
      title = {Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies},
      journal = {Clinical Neurology and Neuroscience},
      volume = {5},
      number = {2},
      pages = {18-20},
      doi = {10.11648/j.cnn.20210502.13},
      url = {https://doi.org/10.11648/j.cnn.20210502.13},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20210502.13},
      abstract = {Background: The pyruvate dehydrogenase (PDH) complex is essential in the glycolytic conversion of pyruvate to acetyl-CoA. This reaction helps yield adenosine triphosphate (ATP) – a source for energy. Hence, PDH deficiency will lead to metabolic dysfunction. Case: The case report at hand unearths the perplexing presentation of two genetically predisposed Emirati siblings that were found to be thiamine responsive. Both patients complained of a variety of symptoms at the same age following an episode of gastritis. They undergo extensive laboratory tests and imaging and are initially diagnosed with non-alcoholic Wernicke encephalopathy (WE). Objective: It has come to our attention that this rapidly debilitating condition demonstrates a constellation of seemingly incongruent gastrointestinal and neuropsychiatric manifestations. It is imperative that the peculiarities of this disease be recognized. Because PDH deficiency does not conform to defined diagnostic criteria outlined in evidence-based guidelines, treatment is likely to be delayed. Method: A careful retrospective scrutiny of the patients’ initial presentation and peculiar hospital course encourages identification of our limitations in providing efficacious quality care and in hopes of devising a systematic approach for future encounters. Conclusion: Any patient presenting to the emergency department with prolonged vomiting or diarrhea, for example, should be given thiamine as it is safe, inexpensive and may be lifesaving. We herein report two patients with indistinct, yet similar, signs and symptoms.},
     year = {2021}
    }
    

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  • TY  - JOUR
    T1  - Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies
    AU  - Mariam Hassan
    AU  - Ali Hassan
    AU  - Ahmed Shatila
    AU  - Sudhir Kumar Chirakarra
    Y1  - 2021/04/30
    PY  - 2021
    N1  - https://doi.org/10.11648/j.cnn.20210502.13
    DO  - 10.11648/j.cnn.20210502.13
    T2  - Clinical Neurology and Neuroscience
    JF  - Clinical Neurology and Neuroscience
    JO  - Clinical Neurology and Neuroscience
    SP  - 18
    EP  - 20
    PB  - Science Publishing Group
    SN  - 2578-8930
    UR  - https://doi.org/10.11648/j.cnn.20210502.13
    AB  - Background: The pyruvate dehydrogenase (PDH) complex is essential in the glycolytic conversion of pyruvate to acetyl-CoA. This reaction helps yield adenosine triphosphate (ATP) – a source for energy. Hence, PDH deficiency will lead to metabolic dysfunction. Case: The case report at hand unearths the perplexing presentation of two genetically predisposed Emirati siblings that were found to be thiamine responsive. Both patients complained of a variety of symptoms at the same age following an episode of gastritis. They undergo extensive laboratory tests and imaging and are initially diagnosed with non-alcoholic Wernicke encephalopathy (WE). Objective: It has come to our attention that this rapidly debilitating condition demonstrates a constellation of seemingly incongruent gastrointestinal and neuropsychiatric manifestations. It is imperative that the peculiarities of this disease be recognized. Because PDH deficiency does not conform to defined diagnostic criteria outlined in evidence-based guidelines, treatment is likely to be delayed. Method: A careful retrospective scrutiny of the patients’ initial presentation and peculiar hospital course encourages identification of our limitations in providing efficacious quality care and in hopes of devising a systematic approach for future encounters. Conclusion: Any patient presenting to the emergency department with prolonged vomiting or diarrhea, for example, should be given thiamine as it is safe, inexpensive and may be lifesaving. We herein report two patients with indistinct, yet similar, signs and symptoms.
    VL  - 5
    IS  - 2
    ER  - 

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Author Information
  • College of Medicine, Gulf Medical University, Ajman, United Arab Emirates

  • College of Medicine, Gulf Medical University, Ajman, United Arab Emirates

  • Department of Neurology, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates

  • Department of Neurology, Sheikh Shakhbout Medical City, Abu Dhabi, United Arab Emirates

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