Table 3.
Overview of clinical outcome at last follow-up in 20 partial DiGeorge syndrome (pDGS) patients with 22q11·2 microdeletion (1995–2005).
| HR | Complications | Developmental outcome | Outcome |
|---|---|---|---|
| 2 | Recurrent bronchitis; stomatitis aphthosa, otitis, chylothorax, LPD (EBV), monoclonal gammopathy (IgM), Escherichia coli-sepsis after partial splenectomy of a giant splenomegaly | Remedial kindergarten (speech therapy) | Death at 58 months (because of atypical LPD) |
| 4 | Cholecystitis, ascites, pneumonia, sepsis, tracheitis, transient thromboctopenia | Normal kindergarten (speech therapy) | Alive/well |
| 6 | Chylothorax, cystitis, chronic granulomatous tracheitis, nephrocalcinosis, pneumonia | Severe developmental/motor delay | Death at 4 months (Stenotrophomonas maltophilia pneumonia) |
| 7 | Chylothorax | Normal school | Alive/well |
| 8 | Tracheitis, pneumonia, sepsis | Remedial kindergarten (speech therapy) | Alive, LPA stenosis |
| 9 | Recurrent bronchitis; tracheitis, pneumonia, RSV-bronchiolitis, bacterial sepsis | Mild atactic cerebral palsy, mild speech delay, remedial kindergarten | Alive (mild aortic insufficiency, chronic pneumopathy) |
| 10 | ARDS, tracheitis, bacterial sepsis (Pseudomonas), PSWI | Severe developmental/motor delay | Death at 12 months (Pseudomonas sepsis) |
| 13 | Gastroenteritis, Hashimoto thyroiditis | Normal school | Alive/well |
| 14 | Recurrent bronchitis; tracheitis, otitis media | Normal kindergarten (remedial support), moderate developmental delay | Death at 72 months (HF) |
| 15 | Enteroviral meningitis | Normal kindergarten (remedial support) | Alive (residual moderate aortic stenosis) |
| 20 | Cholangitis, pancreatitis, RSV bronchiolitis, bacterial sepsis, autoimmune neutropenia and thrombocytopenia | Severe developmental/motor delay | Death at 25 months (RSV bronchiolitis/Pseudomonas cepacia pneumonia) |
| SR | |||
| 1 | No | Normal kindergarten | Alive/well |
| 3 | Pneumonia, otitis media, laryngotracheitis | Normal school | Alive/well |
| 5 | Sepsis, ascites, cystitis, tracheitis, pyelonephritis, pneumonia (Pseudomonas) | Normal kindergarten (speech therapy) | Alive/well |
| 11 | Chylothorax, NEC, pneumonia, bacterial sepsis (Staphylococcus aureus) | Slight developmental delay, mild speech delay, normal kindergarten | Alive (severe subvalvular aortic stenosis) |
| 12 | Recurrent bronchitis; gastroenteritis, tracheitis, pneumonia, RSV-bronchiolitis, bacterial sepsis, tracheitis, PSWI | Severe developmental/motor delay | Death at 20 months (HF) |
| 16 | Ascites, chylothorax, gastroenteritis, tracheitis | Severe developmental/motoric delay | Death at 21 months (HF) |
| 17 | Recurrent bronchitis | Normal kindergarten (speech therapy) | Alive, cyanotic |
| 18 | No | Remedial kindergarten | Alive/well |
| 19 | Urinary tract infection, otitis media, RSV-bronchiolitis | Normal kindergarten (speech therapy) | Alive/well |
Bold: all deceased patients; bold and italic: patients deceased because of non-cardiac complications. Patients with autoimmunity (all within the high-risk group): patient 13 with Hashimoto thyroiditis; patient 20 with autoimmune neutropenia/thrombocytopenia; patient 2 with monoclonal gammopathy of immunoglobulin M (IgM)-type and polyclonal lymphoproliferative disease (LPD). ARDS, acute respiratory distress syndrome; EBV, Epstein–Barr virus; GER, gastroesophageal reflux; HF, heart failure; HPT, hypoparathyroidism; HR, high-risk patients; NEC, necrotizing enterocolitis; PSWI, post-sternotomy wound infection; RHF, right heart failure; RSV, respiratory syncytial virus; SR, standard-risk patients.