Altered mental status and hematemesis in a child with hypercalcemia

Area of Science:

• Pediatric Endocrinology
• Pediatric Emergency Medicine
• Medical Genetics

Background:

• Altered mental status in children necessitates a broad differential diagnosis, including metabolic disturbances.
• Hypercalcemia is an uncommon but critical cause of altered mental status in pediatric populations.
• Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder typically presenting with mild, asymptomatic hypercalcemia.

Observation:

• A 13-month-old boy presented with altered mental status and hematemesis.
• The patient was diagnosed with severe hypercalcemia secondary to familial hypocalciuric hypercalcemia.
• This presentation is atypical for FHH, which usually remains asymptomatic.

Findings:

• Severe hypercalcemia can manifest with significant clinical symptoms in children, including neurological changes and gastrointestinal bleeding.
• Familial hypocalciuric hypercalcemia, though rare, should be considered in the differential diagnosis of pediatric hypercalcemia with severe symptoms.
• This case underscores the variability in clinical presentation of FHH.

Implications:

• Early recognition and management of hypercalcemia are crucial for preventing life-threatening complications in children.
• This case emphasizes the need for a thorough evaluation of metabolic causes in pediatric patients with altered mental status.
• Understanding the spectrum of FHH presentation aids in timely diagnosis and appropriate patient care.