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Table 2 Recommended investigations for the diagnosis and surveillance of patients with Vici syndrome

From: Vici syndrome: a review

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
  1. For more detail of recommended investigations and/or expected findings see a[14] b[16] c[6]