Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy
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Vici 综合征——一种快速进展的神经退行性疾病，伴有色素沉着不足、免疫缺陷和肌肉活检的肌病改变
DOI：
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发表时间：
2012
期刊：
影响因子：
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通讯作者：
C. Sewry
中科院分区：
文献类型：
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作者：
E. Said;D. Soler;C. Sewry
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.
