Case series of neonatal hypocalcemia due to pseudohypoparathyroidism

Area of Science:

• Pediatrics
• Endocrinology
• Neonatology

Background:

• Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by resistance to parathyroid hormone.
• Infantile seizures can be a presenting symptom of severe hypocalcemia, often linked to metabolic disorders.
• Early diagnosis and management are crucial for preventing neurological complications in affected infants.

Purpose of the Study:

• To describe the clinical presentation and biochemical findings of pseudohypoparathyroidism in neonates.
• To evaluate the treatment response and long-term outcomes in infants diagnosed with PHP.
• To highlight the diagnostic challenges and therapeutic strategies for infantile hypocalcemic seizures secondary to PHP.

Main Methods:

• Case series involving four infants aged 10-40 days presenting with multifocal seizures.
• Biochemical investigations including serum calcium, phosphate, parathyroid hormone, and magnesium levels.
• Assessment of kidney function and response to therapeutic interventions (intravenous calcium, oral calcitriol, and calcium).

Main Results:

• All four infants presented with hypocalcemia and hyperphosphatemia, with normal kidney function.
• Elevated serum parathyroid hormone levels confirmed resistance to the hormone.
• Seizures were initially refractory to intravenous calcium but responded well to oral calcitriol and calcium therapy.

Conclusions:

• Pseudohypoparathyroidism should be considered in neonates with unexplained hypocalcemic seizures, even without typical PHP features.
• Combined oral calcitriol and calcium therapy is effective in managing seizures and normalizing biochemistry in infantile PHP.
• Timely intervention leads to symptom resolution and biochemical normalization in affected infants.