{
  "abstract": "We report the case of a male in his late teens who presented to our emergency department with acute generalised tonic-clonic seizures. Neurological examination, neuroimaging and laboratory tests confirmed severe hypocalcaemia, secondary to hypoparathyroidism, as the cause of his seizures. A detailed history was significant for recurrent urinary tract infections and epilepsy, accompanied by impaired academic performance and an intracardiac repair 8 years prior to presentation for a congenital cyanotic heart disease. Dysmorphic features on clinical examination, accompanied by the chronicity of complaints, led us to consider a genetic syndrome. On genomic microarray analysis (GMA), a 22q11.21 deletion was detected. The present case aims to highlight how commonly encountered laboratory findings, such as hypocalcaemia, can facilitate the identification of genetic associations like 22q11.2 deletion syndrome (22q11.2DS), a rare diagnosis in adulthood. In many cases, clinical problems may be managed in isolation without triggering a unifying diagnosis.",
  "authors": [
    {
      "affiliations": [
        "General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"
      ],
      "name": "Chaitra Kannadka"
    },
    {
      "affiliations": [
        "General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"
      ],
      "name": "Arundhati Girish Diwan"
    },
    {
      "affiliations": [
        "General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"
      ],
      "name": "Swati Chouhan"
    },
    {
      "affiliations": [
        "General Medicine, Bharati Vidyapeeth (Deemed to be University), Pune, Maharashtra, India"
      ],
      "name": "Bryan Koithara"
    }
  ],
  "title": "Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood",
  "uid": "f83df337-8f7e-529f-a062-930ff030050a"
}