Nicita Francesco, Torrente Isabella, Spalice Alberto, Bottillo Irene, Papetti Laura, Pinna Valentina, Ursitti Fabiana, Ruggieri Martino
Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Viale Regina Elena 324, Rome 00161, Italy.
Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
J Clin Neurosci. 2014 Feb;21(2):328-30. doi: 10.1016/j.jocn.2013.01.026. Epub 2013 Aug 15.
Familial spinal neurofibromatosis (FSNF) is a rare form of neurofibromatosis type 1 (NF1) characterized by multiple, histologically proven neurofibromas of the spinal roots leaving no intact segments and associated neurofibromas of major peripheral nerves. It is sometimes associated with other NF1 stigmata. Most patients have NF1 gene mutations. We describe a patient who fulfilled the diagnostic criteria for spinal neurofibromatosis and belonged to a family in which other affected members exhibited classical NF1 stigmata. A novel missense (c.7109 T>A; p.Val2370Asp) mutation in exon 39 of the NF1 gene was present in the affected family members. The family displayed extreme phenotypic variability in the spectrum of NF1. To our knowledge, this is the first patient with spinal neurofibromatosis in the context of classical NF1 with an NF1 gene mutation. The term FSNF is inaccurate as this condition simply reflects the typical autosomal dominant pattern of NF1 inheritance with phenotypoc variability and does not encompass patients with sporadic disease or those in the context of a classical NF1 phenotype as reported in the present family. The term could be replaced by "spinal neurofibromatosis".
家族性脊髓神经纤维瘤病（FSNF）是1型神经纤维瘤病（NF1）的一种罕见形式，其特征是脊髓神经根出现多个经组织学证实的神经纤维瘤，没有完整节段，且伴有主要周围神经的神经纤维瘤。它有时与其他NF1体征相关。大多数患者有NF1基因突变。我们描述了一名符合脊髓神经纤维瘤病诊断标准且属于一个家族的患者，该家族中其他受影响成员表现出典型的NF1体征。在受影响的家族成员中存在NF1基因第39外显子的一个新的错义突变（c.7109 T>A；p.Val2370Asp）。该家族在NF1谱系中表现出极大的表型变异性。据我们所知，这是首例在经典NF1背景下患有脊髓神经纤维瘤病且存在NF1基因突变的患者。术语FSNF不准确，因为这种情况仅仅反映了NF1典型的常染色体显性遗传模式以及表型变异性，并不涵盖散发性疾病患者或像本家族所报道的具有经典NF1表型的患者。该术语可被“脊髓神经纤维瘤病”所取代。
