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.
Insulinoma is the most common cause of endogenous hyperinsulinism. Most are benign and solitary. Hereby the authors present a 36-year-old woman who was admitted for confusion, aggressive behaviour, and visual hallucinations. Initial investigation revealed hypoglycaemia, and the patient recovered after the administration of intravenous glucose. The 72-hour fasting test was compatible with hyperinsulinism. Endoscopic ultrasound detected a nodule in the tail of the pancreas. Surgical resection of the nodule was performed, and histological examination revealed a pancreatic neuroendocrine tumour. The patient had a favourable outcome with resolution of the symptoms.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.