胼胝角膜形成、アルビニズム、重度の発育遅延を呈したVici症候群の2例

Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay.

• Mina Hızal
• Batuhan Yeke
• Yılmaz Yıldız
• Ali Öztürk
• Berrak Bilginer Gürbüz
• Turgay Coşkun

抄録

背景:

Vici症候群は、表現型が不均一なまれな常染色体劣性疾患である。本疾患の特徴は、眼球性アルビニズム、冠状動脈瘤形成、白内障、心筋症、免疫不全などである。

BACKGROUND: Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.

症例:

ここでは、トルコでVici症候群を発症した2例を報告する。そのうちの1例はEPG5に新規変異を有しており，特発性血小板減少性紫斑病（ITP）とStevens-Johnson症候群に類似した黄斑部発疹を呈したが，これは文献上数例しか報告されていない．

CASE: Here we report two Turkish patients with Vici syndrome. One of these patients had a novel mutation in EPG5 and presented with idiopathic thrombocytopenic purpura (ITP) and maculopapular rashes similar to Stevens-Johnson syndrome, which has been previously reported in only a few cases in the literature.

結論:

Vici症候群は典型的な表現型を有しており，多系統障害を有する乳児の診断を容易にする可能性がある．Vici症候群の所見にITPと黄斑部発疹が追加される可能性がある。

CONCLUSION: Vici syndrome presents with a typical phenotype which may facilitate diagnosis for infants with multisystemic disorders. ITP and maculopapular rashes might be added to the spectrum of findings of patients with Vici syndrome.