Premium
22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man
Author(s) -
Cao Z.,
Yu R.,
Dun K.,
Burke J.,
Caplin N.,
Greenaway T.
Publication year - 2011
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/j.1445-5994.2010.02374.x
Subject(s) - hypoparathyroidism , medicine , basal ganglia , calcification , hypocalcaemia , pathology , central nervous system , calcium
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.