期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 2, 页码 440-444出版社
WILEY
DOI: 10.1002/ajmg.a.34273
关键词
Vici syndrome; hypopigmentation; immunodeficiency; agenesis of the corpus callosum; neuromuscular disorder; myopathy; psychomotor delay
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. (C) 2011 Wiley Periodicals, Inc.
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