Ambiguous Presentations of Pyruvate Dehydrogenase Deficiency: Combined Case Studies

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.