Yamada Seiji, Wood Christopher P, Shah Jawad A, Vida Jonathan, Parisi Joseph E, Jentoft Mark E
Department of Experimental Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.
Neuropathology. 2016 Oct;36(5):480-484. doi: 10.1111/neup.12296. Epub 2016 Apr 18.
Hypothalamic hamartomas are rare tumors that typically present in childhood, often with gelastic seizures, precocious puberty, or as a manifestation of Pallister-Hall syndrome. Neurofibrillary tangles are cytoplasmic aggregates of hyperphosphorylated tau that are best recognized in Alzheimer disease, other tau-associated neurodegenerative diseases, or as part of aging, but occasionally may be seen in low-grade neoplasms with a ganglion cell component as gangliocytoma or ganglioglioma. Herein, we report a case of hypothalamic hamartoma with neurofibrillary tangles.
下丘脑错构瘤是一种罕见的肿瘤,通常在儿童期出现,常伴有痴笑性癫痫、性早熟,或作为帕利斯特-霍尔综合征的一种表现。神经原纤维缠结是过度磷酸化tau蛋白的细胞质聚集体,在阿尔茨海默病、其他与tau相关的神经退行性疾病或作为衰老的一部分时最为常见,但偶尔也可见于具有神经节细胞成分的低级别肿瘤,如神经节细胞瘤或神经节胶质瘤。在此,我们报告一例伴有神经原纤维缠结的下丘脑错构瘤病例。