A case of Di Georges syndrome presenting in late adulthood
Sarah Brewster1, Rajesh Rajendran1, David Coppini2 & Tristan Richardson1
Introduction: Di Georges syndrome is a rare congenital disease that is usually diagnosed in childhood due to its presentation with velo-cardio-facial abnormalities.
Case report: A 42-year-old man was incidentally found to be hypocalcaemic (corrected calcium 1.71 mmol/l) during a well-man check. A subsequent parathyroid hormone (PTH) was inappropriately low at 0.8 pmol/l (reference range 0.54.4 pmol/l).
He was referred to our calcium clinic after having been started on 1-alfacalcidol in the general endocrinology clinic (at another unit). Past medical history included mild congenital palatal abnormalities, and a single kidney on a recent ultrasound scan. He had had no previous neck surgery.
Renal function, magnesium and phosphate levels were normal. Examination revealed an oval shaped face and tapering fingers. Chvostek and Trousseaus signs were negative. DEXA scan diagnosed osteoporosis at the spine (T-score −2.7) and osteopaenia at the hip (T-score −1.8).
Di Georges syndrome was suspected and subsequently confirmed on chromosomal analysis that showed the characteristic heterozygous deletion of 22q11. Genetic counselling has been offered.
Discussion: Di Georges syndrome is usually diagnosed in childhood, but our case was identified in late adulthood following the incidental finding of hypocalcaemia. A thorough review of the patient history is important in order to pick up rarer presentations of hypocalcaemia. It is important to identify Di Georges syndrome early, because children can develop immune paresis, and special precautions are required for blood transfusion and immunisation with live vaccines. Genetic counselling should be offered, as there is a one in two chance of passing the deletion on to their offspring.