Hypertrophic neuropathy in Noonan syndrome with multiple lentigines | Zendy

Maridet Claire | Zendy; Sole Guilhem | Zendy; MoricePicard Fanny | Zendy; Taieb Alain | Zendy

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Hypertrophic neuropathy in Noonan syndrome with multiple lentigines

Author(s) -

Maridet Claire,

Sole Guilhem,

MoricePicard Fanny,

Taieb Alain

Publication year - 2016

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.37601

Subject(s) - noonan syndrome , medicine , ptpn11 , differential diagnosis , short stature , dermatology , neurofibromatosis , neurofibromatosis type i , osteochondrodysplasia , peripheral neuropathy , pathology , endocrinology , cancer , colorectal cancer , kras , diabetes mellitus

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.

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