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How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis?

Larry Nichols1, Diana Alejandra Rios2

  • 1Mercer University School of Medicine, Department of Pathology. Macon, GA, United States of America.

Autopsy & Case Reports
|March 19, 2020
PubMed

Insights

Mucormycosis, a dangerous fungal infection, is often missed in patients with von Gierke disease, a condition causing low blood sugar. Early suspicion is crucial for timely diagnosis and treatment of this often-fatal infection.

Area of Science:

  • Medical Mycology
  • Metabolic Disorders
  • Clinical Case Reports

Background:

  • Mucormycosis is a severe, invasive fungal infection with high mortality, particularly in immunocompromised individuals.
  • Hyperglycemia in uncontrolled diabetes is a known risk factor for mucormycosis.
  • Type I glycogen storage disease (von Gierke disease) is characterized by hypoglycemia due to enzyme deficiencies in glycogen metabolism.

Purpose of the Study:

  • To report a case of pulmonary mucormycosis in a patient with von Gierke disease.
  • To highlight the diagnostic challenges and clinical importance of considering mucormycosis in specific patient populations.
  • To emphasize the need for a high index of suspicion for mucormycosis in patients with metabolic disorders.

Main Methods:

  • Case report presentation.
  • Review of clinical presentation, diagnostic workup, and treatment of the patient.
  • Discussion of the interplay between von Gierke disease and mucormycosis risk.

Main Results:

  • A patient with von Gierke disease presented with symptoms suggestive of a pulmonary infection.
  • The diagnosis of pulmonary mucormycosis was initially missed.
  • The case underscores the potential for atypical presentations of mucormycosis.

Conclusions:

  • Mucormycosis can occur in patients with von Gierke disease, despite the typical association with hyperglycemia.
  • A high index of suspicion is essential for diagnosing mucormycosis in patients with underlying metabolic disorders.
  • Prompt diagnosis and treatment are critical for improving outcomes in mucormycosis.
Keywords:
AutopsyGlycogen Storage Disease Type ILung Diseases, FungalMucor

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