22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man.
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.
Departments of Diabetes and Endocrine Services General Medicine Radiology Cytogenetics Services Tasmanian Clinical Genetics Service, Royal Hobart Hospital, Hobart, Tasmania, Australia.
Z
Z
Cao
R
R
Yu
K
K
Dun
J
J
Burke
N
N
Caplin
T
T
Greenaway
D000328:Adult; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D001479:Basal Ganglia / Q000000981:diagnostic imaging / Q000473:pathology*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D004062:DiGeorge Syndrome / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000188:drug therapy / Q000209:etiology*; D006801:Humans; D054559:Hyperphosphatemia / Q000235:genetics; D006996:Hypocalcemia / Q000150:complications / Q000235:genetics*; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics*; D008297:Male; D010281:Parathyroid Hormone / Q000172:deficiency; D010641:Phenotype; D018410:Pneumonia, Bacterial / Q000150:complications; D014057:Tomography, X-Ray Computed; D014635:Valproic Acid / Q000627:therapeutic use
D000927:Anticonvulsants; D010281:Parathyroid Hormone; D014635:Valproic Acid