title: PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Rue du Bugnon 21, 1011, Lausanne, Switzerland. marianna.spatola@chuv.ch.
authors.forename: Marianna
authors.initials: M
authors.lastname: Spatola
authors.affiliation: Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Rue du Bugnon 21, 1011, Lausanne, Switzerland. christian.wider@chuv.ch.
authors.forename: Christian
authors.initials: C
authors.lastname: Wider
authors.affiliation: Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Rue du Bugnon 21, 1011, Lausanne, Switzerland. thierry.kuntzer@chuv.ch.
authors.forename: Thierry
authors.initials: T
authors.lastname: Kuntzer
authors.affiliation: Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Rue du Bugnon 21, 1011, Lausanne, Switzerland. alexandre.croquelois@chuv.ch.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Croquelois
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D044542:LEOPARD Syndrome / Q000150:complications / Q000235:genetics*; D009154:Mutation; D009437:Neuralgia / Q000209:etiology / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000209:etiology / Q000473:pathology*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
chemical_list: C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11