A Rare and Potentially Fatal Etiology of Hypercalcemia in an Infant

Area of Science:

• Pediatric Endocrinology
• Infectious Diseases
• Granulomatous Diseases

Background:

• Hypercalcemia is an uncommon pediatric finding with diverse causes.
• Granulomatous diseases can lead to hypercalcemia via increased 1-alpha-hydroxylase activity, though rare in infants.

Observation:

• A case of an infant presenting with failure to thrive, hepatosplenomegaly, and hypercalcemia is described.
• The infant was initially treated with steroids before a diagnosis of disseminated histoplasmosis was established.
• The disseminated histoplasmosis occurred in the absence of any known underlying immunodeficiency.

Findings:

• Disseminated histoplasmosis, a granulomatous disease, was identified as the cause of hypercalcemia in the infant.
• Increased activity of the 1-alpha-hydroxylase enzyme is the proposed mechanism for hypercalcemia in this case.
• The diagnosis was made despite the absence of typical risk factors like immunodeficiency.

Implications:

• This case highlights an extremely rare cause of pediatric hypercalcemia.
• It underscores the importance of thorough etiological investigation before initiating steroid treatment for hypercalcemia.
• Caution is advised regarding empirical steroid use in infants with unexplained hypercalcemia, especially when granulomatous infections are suspected.