J Burke

The Royal Hobart Hospital, Hobart Town, Tasmania, Australia

Are you J Burke?

Claim your profile

Publications (1)1.64 Total impact

  • Z Cao · R Yu · K Dun · J Burke · N Caplin · T Greenaway
    [Show abstract] [Hide abstract]
    ABSTRACT: We report a 40-year-old man who was found to have profound hypocalcaemia and hypoparathyroidism when investigated for multiple, generalized, tonic/clonic seizures and a chest infection. Computed tomography scan of the brain revealed extensive symmetric bilateral calcification within the cerebellum, thalamus and basal ganglia. Molecular cytogenetic testing by fluorescent in situ hybridization using the commercial Vysis LSI DiGeorge/VCFS dual colour probe set showed a deletion of 22q11.2. The extraordinary feature of this case is the adult presentation of hypocalcaemia, hypoparathyroidism and basal ganglia calcification due to 22q11.2 deletion.
    Internal Medicine Journal 01/2011; 41(1a):63-6. DOI:10.1111/j.1445-5994.2010.02374.x · 1.64 Impact Factor