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Pseudohypoparathyroidism presenting with bony deformities resembling rickets
Anurag Bajpai1, Jyoti Sharma, Pankaj Hari
1Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Indian Journal of Pediatrics
|April 27, 2004
Summary
Pseudohypoparathyroidism (PHP) can cause rickets-like bone deformities. Early diagnosis and treatment with 1-hydroxyvitamin D and calcium carbonate can resolve symptoms in affected children.
Area of Science:
- Endocrinology
- Pediatrics
- Genetics
Background:
- Pseudohypoparathyroidism (PHP) is a rare genetic disorder characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels.
- PHP can present with skeletal abnormalities that mimic rickets, posing diagnostic challenges.
Observation:
- Two siblings presented with clinical and radiological features of rickets unresponsive to standard vitamin D therapy.
- Laboratory findings included low serum calcium, elevated serum phosphate, normal renal function, increased tubular reabsorption of phosphate, and high parathyroid hormone levels, strongly suggesting PHP.
Findings:
- Treatment with 1-hydroxyvitamin D and calcium carbonate resulted in significant clinical improvement.
- Patients experienced reduced bone pain, increased height and weight, and resolution of radiological signs of rickets.
Implications:
- This case highlights the importance of considering PHP in the differential diagnosis of rickets, especially in cases resistant to vitamin D.
- Prompt diagnosis and appropriate management of PHP can prevent or reverse skeletal deformities and improve growth in affected children.