Hypocalcaemia in an adult: the importance of not overlooking the cause.
| Autor: | Abrantes C; Department of Nephrology, Setúbal Hospital Center, Setúbal, Portugal., Brigas D; Department of Internal Medicine, Setúbal Hospital Center, Setúbal, Portugal., Casimiro HJ; Department of Internal Medicine, Setúbal Hospital Center, Setúbal, Portugal.; Histology and Developmental Biology Institute, Faculty of Medicine, University of Lisbon, Lisboa, Portugal., Madeira M; Department of Internal Medicine, Setúbal Hospital Center, Setúbal, Portugal. |
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| Jazyk: | angličtina |
| Zdroj: | BMJ case reports [BMJ Case Rep] 2018 Apr 05; Vol. 2018. Date of Electronic Publication: 2018 Apr 05. |
| DOI: | 10.1136/bcr-2017-224108 |
| Abstrakt: | A 58-year-old male patient was admitted at the São Bernardos's Hospital (Setúbal, Portugal) with generalised muscle spasms, dyspnoea, laryngospasm and bronchospasm in the context of severe hypocalcaemia. Despite efforts to correct serum calcium, it remained below average, leading to question the true cause of hypocalcaemia. Low parathyroid hormone and 25-hydroxyvitamin D, along with facial anomalies, palate defect and cognitive impairment with concomitant psychiatric disorder led to a suspicion of a DiGeorge/velocardiofacial/22q11.2 deletion syndrome (DS), which was confirmed through genetic testing. The 22q11.2 DS has a wide phenotypic expression and there are growing reports of diagnosis being made in adulthood. This case report highlights the importance of understanding the cause of refractory hypocalcaemia and alerts medical community to carefully access these patients, for this metabolic disorder may only present in later stages of life. Competing Interests: Competing interests: None delcared. (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.) |
| Databáze: | MEDLINE |
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