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Pseudo-vitamin D deficiency rickets: report of a case
Helvetica Paediatrica Acta
|January 1, 1979
Insights
A young boy
Area of Science:
- Pediatric Endocrinology
- Nutritional Rickets
Background:
- Pseudo-vitamin D deficiency rickets is a rare genetic disorder.
- It leads to severe calcium and phosphate imbalances.
- Early diagnosis is crucial for preventing complications.
Observation:
- A 19-month-old boy presented with recurrent convulsions starting at 7 months.
- Hypocalcaemia, a key feature of rickets, was identified as the cause.
- The patient was diagnosed with pseudo-vitamin D deficiency rickets.
Findings:
- High-dose vitamin D therapy was administered.
- Treatment resulted in significant clinical improvement.
- Biochemical markers and radiographic evidence confirmed recovery.
Implications:
- This case highlights the importance of recognizing pseudo-vitamin D deficiency rickets.
- Prompt and adequate vitamin D supplementation can effectively manage the condition.
- Early intervention prevents severe neurological and skeletal issues in children.
Abstract:
A 19-month-old boy with repeated convulsions from the age of 7 months was found to have pseudo-vitamin D deficiency rickets. The convulsions were attributed to hypocalcaemia which is one of the main features of this type of rickets. High doses of vitamin D produced clinical, biochemical and radiographic cure.