Psedohypoparathyroidism in newborn - a rare presentation

Area of Science:

• Pediatric Endocrinology
• Metabolic Disorders
• Genetics

Background:

• Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by resistance to parathyroid hormone (PTH).
• It typically presents with hypocalcemia and hyperphosphatemia due to impaired PTH signaling.
• Neonatal presentation often involves seizures secondary to severe hypocalcemia.

Observation:

• A 7-day-old male infant experienced persistent multifocal convulsions starting on day two of life.
• Laboratory tests revealed hypocalcemia, hyperphosphatemia, normal serum magnesium, and normal renal function.
• Elevated serum parathyroid hormone levels were noted, indicating PTH resistance.

Findings:

• The infant was diagnosed with pseudohypoparathyroidism.
• Treatment involved calcium supplementation and calcitriol (active vitamin D).
• At nine months of age, the infant was asymptomatic with normalized serum calcium and phosphorus levels.

Implications:

• This case highlights the importance of early recognition and management of pseudohypoparathyroidism in neonates presenting with seizures.
• Prompt treatment with calcium and calcitriol can effectively manage hypocalcemia and prevent long-term complications.
• This underscores the need for comprehensive metabolic workup in infants with unexplained convulsions.