File(s) under permanent embargo
22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man
journal contribution
posted on 2023-05-19, 08:38 authored by Cao, Z, Yu, R, Dun, K, Jo BurkeJo Burke, Caplin, N, Timothy GreenawayTimothy GreenawayWe 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.
History
Publication title
Internal Medicine JournalVolume
41Issue
1 APagination
63-66ISSN
1444-0903Department/School
Tasmanian School of MedicinePublisher
Wiley-Blackwell Publishing AsiaPlace of publication
AustraliaRights statement
Copyright 2011 The AuthorsRepository Status
- Restricted