表现为豹皮综合征的PTPN11突变与肥厚性神经丛和神经性疼痛相关。
PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
作者信息
Spatola Marianna, Wider Christian, Kuntzer Thierry, Croquelois Alexandre
机构信息
Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Rue du Bugnon 21, 1011, Lausanne, Switzerland.
出版信息
BMC Neurol. 2015 Apr 16;15:55. doi: 10.1186/s12883-015-0310-8.
BACKGROUND
LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are caused by mutations in genes encoding proteins involved in the RAS-MAPK cellular pathway. Clinical heterogeneity and phenotype overlaps across those different syndromes is already recognized.
CASE PRESENTATION
We hereby report a heterozygous de novo mutation in the PTPN11 gene (c.1403C > T) manifesting with a clinical picture of LS during childhood, and later development of neuropathic pain with hypertrophic plexi, which are typically observed in NF1 but have not been reported in LS.
CONCLUSION
LS caused by PTPN11 mutations may be associated with hypertrophic roots and plexi. Consequently, clinicians should be aware of the possible development of neuropathic pain and consider specific diagnostic work-up and management.
背景
豹皮综合征（LS）属于神经-心脏-面部-皮肤综合征家族，该家族包括神经纤维瘤病1型（NF1）、努南综合征、科斯特洛综合征、心脏-面部-皮肤综合征、毛发松动型努南样综合征和勒吉尤斯综合征。这些病症是由参与RAS-MAPK细胞通路的蛋白质编码基因突变引起的。这些不同综合征之间的临床异质性和表型重叠已得到公认。
病例报告
我们在此报告一例PTPN11基因的杂合新发突变（c.1403C>T），该突变在儿童期表现为豹皮综合征的临床症状，随后出现肥厚性神经丛的神经性疼痛，这在NF1中较为常见，但在豹皮综合征中尚未见报道。
结论
由PTPN11突变引起的豹皮综合征可能与肥厚性神经根和神经丛有关。因此，临床医生应意识到可能出现的神经性疼痛，并考虑进行特定的诊断检查和治疗。
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