Literature DB >> 26952712

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Claire Maridet1, Guilhem Sole2, Fanny Morice-Picard1, Alain Taieb1.   

Abstract

RASopathies comprise several genetic syndromes with mainly cardio-facial-cutaneous manifestations. We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. Differential diagnosis of neurofibromatosis type 1 (NF1) and other RASopathies is difficult without molecular testing.
© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Entities:  

Keywords:  Noonan syndrome with multiple lentigines; hypertrophic neuropathy; lentigines

Mesh：

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Year:  2016        PMID： 26952712     DOI： 10.1002/ajmg.a.37601

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  2 in total

1.  Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy.

Authors:  M Adelita Vizcaino; Allan Belzberg; Shivani Ahlawat; Sarra Belakhoua; Liam Chen; Verena Staedtke; Fausto J Rodriguez
Journal:  J Neuropathol Exp Neurol       Date:  2020-06-01       Impact factor: 3.685

2.  A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Authors:  Yoshihito Ando; Mikio Sawada; Tadataka Kawakami; Mitsuya Morita; Yoko Aoki
Journal:  Case Rep Neurol       Date:  2021-02-16
  2 in total

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