Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy

Area of Science:

• Pediatric Endocrinology
• Neuromuscular Disorders
• Metabolic Bone Disease

Background:

• Constipation is a common pediatric issue, but persistent hypercalcemia, hypercalciuria, and nephrocalcinosis in infants warrant thorough investigation.
• Early motor delay and hypotonia can be associated with chronic hypercalcemia, but alternative diagnoses should be considered if symptoms persist despite metabolic correction.

Observation:

• A 10-month-old female infant presented with early-onset constipation, hypercalcemia, hypercalciuria, and nephrocalcinosis.
• Despite achieving normocalcemia through dietary calcium restriction, the infant's motor delay and hypotonia did not resolve, prompting further etiological exploration.

Findings:

• The infant was diagnosed with spinal muscular atrophy type 2, a progressive neuromuscular disorder.
• The study suggests a potential link between reduced muscular activity in spinal muscular atrophy and altered bone turnover, leading to hypercalcemia and hypercalciuria.

Implications:

• This case underscores the importance of considering neuromuscular conditions in the differential diagnosis of pediatric hypercalcemia, particularly when associated with motor impairments.
• Altered bone metabolism secondary to immobility may contribute to hypercalcemic syndromes, necessitating a multidisciplinary approach for accurate diagnosis and management in pediatric patients.
• Early identification of spinal muscular atrophy is crucial for timely intervention and management of associated metabolic complications.