These authors contributed equally to this work.
Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy†
Article first published online: 30 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 2, pages 440–444, February 2012
How to Cite
Said, E., Soler, D. and Sewry, C. (2012), Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. Am. J. Med. Genet., 158A: 440–444. doi: 10.1002/ajmg.a.34273
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.
- Issue published online: 19 JAN 2012
- Article first published online: 30 SEP 2011
- Manuscript Accepted: 27 JUL 2011
- Manuscript Received: 16 APR 2011
- Vici syndrome;
- agenesis of the corpus callosum;
- neuromuscular disorder;
- psychomotor delay
Since its first description by Vici et al. , 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.