Hypocalcemia – a Diagnostic Challenge

Abstract

Objective − The authors aimed to describe a case of a rare etiology of hypocalcemia in a child, and highlight the importance of clinical suspicion for prompt diagnosis of calcium disturbances.

Case Report − The 5-year-old male child did not have any symptoms up to 4 days prior to presentation, but fever and a rash, followed by acute onset of seizures prompted presentation to the pediatric emergency department. Clinical records revealed that he had been found to have left hand lesions, global developmental delay, and height below the 3th percentile in a previous assessment. The combination of severe hypocalcemia, hyperphosphatemia, increased PTH levels, and identification of a mutation on a GNAS genetic test, confirmed the diagnosis of type Ia pseudohypoparathyroidism (PHP Ia).

Conclusion − In this case report, the combination of clinical and biochemical findings led to the diagnosis. Hence, it is important to consider the many possible etiologies of seizures and hypocalcemia, taking into account the clues provided by clinical history and physical examination.