Fischer Grant M, Vaziri Fard Elmira, Shah Manish N, Patel Rajan P, Von Allmen Gretchen, Ballester Leomar Y, Bhattacharjee Meenakshi B
Departments of1Pathology and Laboratory Medicine.
2Neurosurgery.
J Neurosurg Pediatr. 2020 Mar 27;26(1):38-44. doi: 10.3171/2020.1.PEDS19706. Print 2020 Jul 1.
Although rare, hyaline cytoplasmic inclusions isolated to astrocytes of the cerebral cortex have been identified in a spectrum of diseases ranging from intractable epilepsy in pediatric patients with only mild to moderate developmental delays to Aicardi syndrome. These inclusions classically stain positive for filamin A, giving rise to the term "filaminopathies." The authors report on 2 pediatric patients with intractable epilepsy and developmental delay who uniquely displayed filamin A-negative hyaline astrocytic inclusions in resected brain tissues. Additionally, these inclusions stained positive for S100 and negative for glial fibrillary acidic protein, chromogranin, neurofilament, CD34, vimentin, periodic acid-Schiff (PAS), and Alcian blue. These are the first reported cases of filamin A-negative hyaline astrocytic inclusions, providing a novel variation on a previously reported entity and justification to further investigate the pathogenesis of these inclusions. The authors compare their findings with previously reported cases and review the literature on hyaline astrocytic inclusions in intractable pediatric epilepsy.
尽管罕见，但在一系列疾病中已发现仅局限于大脑皮质星形胶质细胞的透明细胞质内含物，这些疾病涵盖从仅有轻度至中度发育迟缓的小儿难治性癫痫到艾卡迪综合征。这些内含物经典地对细丝蛋白A呈阳性染色，由此产生了“细丝蛋白病”这一术语。作者报告了2例患有难治性癫痫和发育迟缓的小儿患者，他们在切除的脑组织中独特地表现出细丝蛋白A阴性的透明星形胶质细胞内含物。此外，这些内含物对S100呈阳性染色，而对胶质纤维酸性蛋白、嗜铬粒蛋白、神经丝、CD34、波形蛋白、过碘酸希夫（PAS）染色及阿尔辛蓝呈阴性染色。这些是首次报道的细丝蛋白A阴性的透明星形胶质细胞内含物病例，为先前报道的实体提供了一种新的变体，并为进一步研究这些内含物的发病机制提供了依据。作者将他们的发现与先前报道的病例进行比较，并综述了小儿难治性癫痫中透明星形胶质细胞内含物的文献。
