Silburn P A, Nicholson G A, Teh B T, Blair I P, Pollard J D, Nolan P J, Larsson C, Boyle R S
Department of Neurology, Princess Alexandra Hospital, Brisbane, Australia.
Neurology. 1998 Apr;50(4):1067-73. doi: 10.1212/wnl.50.4.1067.
We report a family with Noonan syndrome (NS), giant proximal nerve hypertrophy, and hereditary motor sensory neuropathy type 1A (HMSN1A). Five members of a family were found to have clinical features of NS. In all cases, NS was associated with giant hypertrophy of proximal nerves and two individuals also exhibited café-au-lait spots. In one case, an 8-to-10-cm diameter pelvic mass was shown to be a grossly hypertrophied nerve, with histologic features of demyelination and remyelination. In addition, four of five family members affected with NS were found to have HMSN1A clinically and by demonstration of constitutional HMSN1A duplication on DNA testing. Linkage analysis for NS ruled out the involvement of the neurofibromatosis type 1 gene and the known NS locus in chromosome 12, supporting the existence of an additional NS locus.
我们报告了一个患有努南综合征（NS）、巨大近端神经肥大和遗传性运动感觉神经病1A型（HMSN1A）的家族。该家族的五名成员被发现具有NS的临床特征。在所有病例中，NS均与近端神经的巨大肥大相关，且有两名个体还表现出咖啡斑。在一个病例中，一个直径8至10厘米的盆腔肿块经证实是一条明显肥大的神经，具有脱髓鞘和再髓鞘化的组织学特征。此外，五名患有NS的家族成员中有四名在临床上被发现患有HMSN1A，并且通过DNA检测证实存在遗传性HMSN1A重复。NS的连锁分析排除了1型神经纤维瘤病基因和12号染色体上已知的NS基因座的参与，支持存在另一个NS基因座。
