Bieser Sarah, Reis Martin, Guzman Miguel, Gauvain Karen, Elbabaa Samer, Braddock Stephen R, Abdel-Baki Mohamed S
Saint Louis University School of Medicine, St. Louis, Missouri.
Am J Med Genet A. 2015 Apr;167A(4):878-81. doi: 10.1002/ajmg.a.37017. Epub 2015 Feb 23.
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.
脑颅皮肤脂肪瘤病(ECCL)是一种病因不明的罕见先天性综合征。自1970年以来,英文文献中已报道了约60例病例。ECCL通常根据皮肤病变和非进行性颅内或脊髓脂肪瘤进行分类;然而,已有3例ECCL与低级别胶质瘤(LGG)相关的病例被描述。我们报告了第4例ECCL患者合并LGG的病例;一名3个月大男性患有具有毛细胞黏液样特征的II级毛细胞型星形细胞瘤,这是文献中最年轻的病例。