Overview
Vici syndrome is a rare congenital disorder characterized by albinism, agenesis of the corpus callosum, developmental delays, and often significant cardiac complications impacting prognosis 1.Diagnosis
Albinism and absence of the corpus callosum
Developmental delays and intellectual disability
Cardiac involvement, particularly cardiomyopathy
Renal tubular acidosis complications
Serial monitoring of brain natriuretic peptides for cardiac assessment 1Management
Beta-blockers for managing cardiomyopathy (specific dosing not detailed) 1
Management of renal tubular acidosis complications
Sleep studies including polysomnography to assess functional brainstem involvement 1Special Populations
Sleep abnormalities noted; polysomnography recommended for comprehensive care 1Key Recommendations
Monitor brain natriuretic peptides serially to assess cardiac function in patients with Vici syndrome (Evidence: Moderate) 1
Consider early initiation of beta-blockers for the management of cardiomyopathy (Evidence: Weak) 1
Conduct polysomnography to evaluate sleep patterns and brainstem function, given potential functional involvement (Evidence: Weak) 1References
1 Miyata R, Hayashi M, Sato H, Sugawara Y, Yui T, Araki S et al.. Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis. American journal of medical genetics. Part A 2007. link