Article Text
Summary
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.
- hypocalcemia
- hypoparathyroidism
- 22q11.2 deletion syndrome
- DiGeorge syndrome
- velocardiofacial syndrome
- adult phenotype
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Footnotes
Contributors CA was responsible for the overall content, including planning, conduct and reporting of the work. DB and MM was responsible for the conduct of the work, including literature search and data collection. HJC was responsible for conduct and reporting of the work.
Competing interests None delcared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.