Darcy Courtney, Ullrich Nicole J
Department of Neurology, Boston Children׳s Hospital, Boston, MA.
Department of Neurology, Boston Children׳s Hospital, Boston, MA.
Semin Pediatr Neurol. 2018 Jul;26:128-131. doi: 10.1016/j.spen.2017.03.020. Epub 2017 Apr 2.
A 15-month-old girl was initially referred for endocrine evaluation for clitoromegaly and subsequently found to have an adrenal mass that tracked along the paravertebral region and was associated with increased vascular markings along the skin. Neurologic examination was normal. Magnetic resonance imaging of the chest mass demonstrated a serpiginous lesion along the intercostal margins. Initial differential diagnosis included neuroblastoma, ganglioneuroblastoma, vascular lesion, or nerve sheath tumor. Biopsy was consistent with plexiform neurofibroma. Subsequent examination revealed features consistent with neurofibromatosis type 1. A review of clinical features of NF1 is provided in the case report.
一名15个月大的女童最初因阴蒂肥大被转诊至内分泌科进行评估，随后发现肾上腺有一肿块，该肿块沿椎旁区域延伸，并伴有皮肤血管纹增多。神经系统检查正常。胸部肿块的磁共振成像显示沿肋间边缘有一匐行性病变。初步鉴别诊断包括神经母细胞瘤、神经节神经母细胞瘤、血管病变或神经鞘瘤。活检结果符合丛状神经纤维瘤。随后的检查发现了与1型神经纤维瘤病相符的特征。病例报告中提供了1型神经纤维瘤病的临床特征综述。
