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Two Different Causes of Paediatric Hypercalcaemia
Stepan Kutilek1, Ivana Plasilova2, Viktor Chrobok3
1Department of Paediatrics, Klatovy Hospital, Klatovy, Czech Republic.
Sultan Qaboos University Medical Journal
|January 5, 2019
Summary
Paediatric hypercalcaemia is a rare condition often misdiagnosed. Early recognition is key for infants with failure to thrive and children with abdominal pain to ensure timely diagnosis and treatment.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Paediatric hypercalcaemia is an uncommon condition that poses diagnostic challenges.
- It can be easily overlooked or misdiagnosed, leading to delayed treatment.
Observation:
- Two paediatric cases of hypercalcaemia are presented from Pardubice Hospital.
- Case 1: A seven-month-old infant with failure to thrive, vomiting, and psychomotor retardation, diagnosed with Williams-Beuren syndrome.
- Case 2: A 16-year-old girl with abdominal pain and renal colic, diagnosed with hypercalcaemia-induced urolithiasis and primary hyperparathyroidism.
Findings:
- Williams-Beuren syndrome was identified in the infant via fluorescent in situ hybridisation.
- Primary hyperparathyroidism, indicated by high parathyroid hormone levels, was diagnosed in the adolescent.
- A parathyroid adenoma was confirmed with SPECT/CT and surgically removed.
Implications:
- Hypercalcaemia should be considered in the differential diagnosis of various paediatric conditions.
- Failure to thrive in infants and abdominal pain in children warrant investigation for hypercalcaemia.
- Prompt diagnosis and management of paediatric hypercalcaemia are crucial for favourable outcomes.
