Hypocalcemia – a Diagnostic Challenge

نویسندگان

چکیده

Objective − The authors aimed to describe a case of rare etiology hypocalcemia in child, and highlight the importance clinical suspicion for prompt diagnosis calcium disturbances.Case Report 5-year-old male child did not have any symptoms up 4 days prior presentation, but fever rash, followed by acute onset seizures prompted presentation pediatric emergency department. Clinical records revealed that he had been found left hand lesions, global developmental delay, height below 3th percentile previous assessment. combination severe hypocalcemia, hyperphosphatemia, increased PTH levels, identification mutation on GNAS genetic test, confirmed type Ia pseudohypoparathyroidism (PHP Ia).Conclusion In this report, biochemical findings led diagnosis. Hence, it is important consider many possible etiologies taking into account clues provided history physical examination.

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ژورنال

عنوان ژورنال: The Central European Journal of Paediatrics

سال: 2023

ISSN: ['2490-3639', '2490-3671']

DOI: https://doi.org/10.5457/p2005-114.337