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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 Greenaway
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.

History

Publication title

Internal Medicine Journal

Volume

41

Issue

1 A

Pagination

63-66

ISSN

1444-0903

Department/School

Tasmanian School of Medicine

Publisher

Wiley-Blackwell Publishing Asia

Place of publication

Australia

Rights statement

Copyright 2011 The Authors

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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