Shaida A M, O'Donovan D G, Moffat D A
Department of Otoneurological and Skull Base Surgery, Addenbrooke's Hospital, Cambridge, UK.
J Laryngol Otol. 2002 Jul;116(7):551-5. doi: 10.1258/002221502760132692.
A case of multiple cervical schwannomas in a five-year-old boy, without other evidence of neurofibromatosis type 2, is described. Schwannomatosis is a disorder characterized by the presence of multiple schwannomas in the absence of neurofibromatosis type 2 that has only been recognized in the last 15 years. The clinical and genetic features of neurofibromatosis types 1 and 2 and schwannomatosis are compared and contrasted. This patient with possible schwannomatosis is presented to illustrate the potential pitfalls of making this diagnosis in the paediatric age group and to increase awareness of the debate on whether this is a distinct entity or a form fruste of neurofibromatosis type 2.
本文描述了一名5岁男孩患有多发性颈部神经鞘瘤的病例，该病例无2型神经纤维瘤病的其他证据。神经鞘瘤病是一种在过去15年才被认识的疾病，其特征是在没有2型神经纤维瘤病的情况下出现多发性神经鞘瘤。本文对1型和2型神经纤维瘤病以及神经鞘瘤病的临床和遗传特征进行了比较和对比。介绍这名可能患有神经鞘瘤病的患者，以说明在儿科年龄组做出这一诊断可能存在的陷阱，并提高人们对关于这是一种独特疾病还是2型神经纤维瘤病的一种顿挫型的争论的认识。
