Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

Authors

  • Edith Said,

    Corresponding author
    1. Department of Anatomy & Cell Biology, University of Malta, Msida, Malta
    2. Section of Medical Genetics, Mater dei Hospital, Msida, Malta
    • Department of Anatomy & Cell Biology, University of Malta, Msida, Malta, Europe.
    Search for more papers by this author
    • These authors contributed equally to this work.

  • Doriette Soler,

    1. Department of Pediatrics, Mater dei Hospital, Msida, Malta
    Search for more papers by this author
    • These authors contributed equally to this work.

  • Caroline Sewry

    1. Dubowitz Neuromuscular Centre, Great Ormond Street Hospital and Institute of Child Health, London, United Kingdom
    Search for more papers by this author

  • How to Cite this Article: Said E, Soler D, Sewry C. 2012. Vici syndrome—a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. Am J Med Genet Part A 158A:440–444.

Abstract

Since its first description by Vici et al. [1988], further reports have continued to broaden the clinical phenotype of this rare multisystem disorder. Main features of agenesis of corpus callosum (ACC), hypopigmentation, immunodeficiency/recurrent infections, cataracts, severe failure to thrive, and profound psychomotor delay have been reported in all cases. An additional feature is the recent evidence for neuromuscular involvement. We describe a female infant with the above core features in whom an initial rapid neurological deterioration and associated transient left ventricular hypertrophy and liver dysfunction was followed by relative clinical stability after ten months of age. This case further underlines the clinical phenotype of Vici syndrome as an early onset neurodegenerative disorder with hypopimentation, recurrent infections and muscle findings indicating myopathic and neurogenic features. © 2011 Wiley Periodicals, Inc.

Ancillary