Coexistence of Endodermal Cyst and Neurofibromatosis Type 1: A Case Report

内胚层囊肿合并1型神经纤维瘤病:病例报告

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Abstract

Endodermal cysts (ECs) are rare benign cystic lesions of the central nervous system. Neurofibromatosis type 1 (NF1) is a genetic disorder associated with neural tumors, but co-occurrence with EC is exceedingly uncommon. We report the case of a 29-year-old male with NF1, characterized by café-au-lait spots and a family history, who presented with headache and left upper limb deficits following minor head trauma. Imaging revealed a posterior fossa tumor. Due to progressive neurological decline, the mass was surgically resected. Intraoperative findings showed a yellowish-white, jelly-like accumulation. Pathological examination confirmed the diagnosis of EC, which was characterized by a wall lined with ciliated epithelium, but lacking skin appendages in the cyst wall. This case suggests that ECs should be included in the differential diagnosis of extra-axial tumors in the posterior fossa. Given the rarity of ECs, a potential association with NF1 is suspected in this case, although the causal relationship remains unclear.

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