22q11.2 deletion syndrome — branching viva

Opening question

A twenty-four-hour-old infant has a conotruncal cardiac lesion, a cleft palate, a characteristic face, a corrected calcium of 1.5 mmol per litre, and a normal standard karyotype. What is the diagnosis, which investigation confirms it, and why was the karyotype inadequate? [1] [2]

Branch 1 — the acute neonatal threats

Take the same child. What is your immediate management of the hypocalcaemia, and how does the cardiac lesion alter your resuscitation? Now the family asks about the rotavirus and BCG vaccines on the schedule — what is the principle that governs live vaccines here, and how is the schedule cleared? [9] [2]

Branch 2 — staging the immune system

The lymphocyte subsets show a moderate T-cell lymphopenia. How do you place this child on the immune spectrum, what defines complete DiGeorge syndrome, and what would change in your management if the T-cells were near-absent? [9]

Branch 3 — the lifespan and psychiatric trajectory

Fast forward to adolescence: the same child, now with a repaired heart, presents with declining school performance and new anxiety. What is the surveillance you should already have in place, what is the significance of the schizophrenia-spectrum risk, and how does it change the plan? [12]

Closing — coordination and counselling

In one sentence, what is the principle of 22q11.2 management across the lifespan, and why does the general paediatrician sit at the centre of a multidisciplinary plan that runs from the neonatal unit to adult psychiatric care? [2] [1]