Hypertrophic neuropathy in Noonan syndrome with multiple lentigines
- 7 March 2016
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 170 (6), 1570-1572
- https://doi.org/10.1002/ajmg.a.37601
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.Keywords
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