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Recurrent hypocalcaemia in an infant with primary hypoparathyroidism due to maternal and infant vitamin D deficiency
Naoko Sone1, Natsuho Adachi1, Ayami Sato1
1Pediatrics, The University of Tokyo Hospital, Bunkyo, Japan.
Insights
This case study details an infant with primary hypoparathyroidism and 22q11.2 deletion syndrome experiencing recurrent hypocalcaemia. Nutritional deficiencies in the mother and infant were identified as key factors, resolved with targeted treatment.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Primary hypoparathyroidism is a rare endocrine disorder causing hypocalcaemia due to insufficient parathyroid hormone secretion.
- It significantly impacts calcium homeostasis.
- 22q11.2 deletion syndrome is a genetic condition associated with various health issues, including hypoparathyroidism.
Purpose of the Study:
- To report a case of primary hypoparathyroidism in an infant with 22q11.2 deletion syndrome.
- To investigate the cause of recurrent hypocalcaemia despite standard treatment.
- To emphasize the role of nutritional assessment in managing such cases.
Main Methods:
- Case report of an infant with primary hypoparathyroidism and 22q11.2 deletion syndrome.
- Clinical evaluation for recurrent hypocalcaemia.
- Nutritional assessment of the infant and mother, including breast milk analysis.
- Treatment with vitamin D and calcium supplementation.
Main Results:
- The infant presented with recurrent hypocalcaemia despite treatment with active vitamin D analogues.
- Severe vitamin D deficiency was found in both the infant and mother.
- Low calcium levels in breast milk were noted, linked to the mother's vegetarian diet and exclusive breastfeeding.
- Treatment of vitamin D deficiency resolved the infant's hypocalcaemia.
Conclusions:
- Recurrent hypocalcaemia in this case was due to a combination of impaired parathyroid hormone function and inadequate calcium/vitamin D intake.
- Comprehensive nutritional assessment is crucial for infants with primary hypoparathyroidism, especially those with genetic syndromes.
- Addressing maternal and infant nutritional status is vital for effective management.
Abstract:
Primary hypoparathyroidism is a rare disorder characterised by hypocalcaemia due to insufficient secretion of parathyroid hormone, which plays a critical role in calcium homeostasis. We report a case of an infant with primary hypoparathyroidism associated with 22q11.2 deletion syndrome who developed recurrent hypocalcaemia despite treatment with active vitamin D analogues. Further evaluation revealed severe vitamin D deficiency in both the infant and her mother, as well as low calcium concentrations in breast milk. The mother adhered to a vegetarian diet and practised exclusive breastfeeding, which likely led to insufficient calcium and vitamin D intake in the infant. The recurrent hypocalcaemia was attributed to the combination of impaired parathyroid hormone response and inadequate calcium intake. Vitamin D deficiency was treated in both the mother and the infant, resulting in the resolution of recurrent hypocalcaemia in the infant. This case highlights the importance of comprehensive clinical and nutritional assessment in infants with primary hypoparathyroidism, particularly when symptoms recur despite appropriate initial therapy.
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