Table 2.
Recommended investigations for the diagnosis and surveillance of patients with Vici syndrome
| Investigation | Presentation/Diagnosis [expected key findings] | Surveillance |
|---|---|---|
| EPG5 testing | Baseline investigation [homozygous/ compound heterozygous mutation] | Not required |
| MRI brain | Baseline investigation [Congenital absence of corpus callosum, along with other described features]a | Not routinely required |
| Ophthalmology assessment | Baseline investigation [Cataracts, ocular albinism]b | Required surveillance for cataracts |
| Cardiac ultrasound | Baseline investigation [Structural defects and/or cardiomyopathy]a | Required surveillance for progressive cardiomyopathy |
| Chest x-ray | Baseline investigation [Thymus aplasia/hypoplasia] | If clinically indicated |
| Immune function tests | Baseline investigationc | Required surveillance for progressive immunedeficiency |
| Renal function tests | Baseline investigation | If clinically indicated |
| Thyroid function tests | Baseline investigation | If clinically indicated |
| Liver function tests | Baseline investigation | If clinically indicated |
| Amino acids assessment | Baseline investigation | If clinically indicated |
| Feeding study | Often clinically indicated [most children require percutaneous feeding] | If clinically indicated |
| EEG | If clinically indicated | If clinically indicated |
| Sleep study | If clinically indicated | If clinically indicated |
| Muscle biopsy | No longer indicated if genetic diagnosis has been establisheda | No longer indicated if genetic diagnosis has been established |