Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia

Kumar, Ishan; Verma, Ashish; Ojha, Ritu; Aggarwal, Priyanka; Shukla, Ram Chandra; Srivastava, Arvind

doi:10.4103/0971-3026.190423

Cited by 4 publications

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“…PNFs in external genital organs have rarely been described in NF1 patients (12,13) and to date there have been no reports of NFNS patients with PNFs invading the external genitalia. In the current literature, the hormonal analyses of all NF1 patients with genital abnormality have been found to be normal (12,13,14,15).…”

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confidence: 96%

A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia

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et al. 2020

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Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from NF1 gene mutations. NFNS is characterized by phenotypic features of both neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas (PNFs) are an unusual finding in NFNS. A seven year-old girl with typical clinical features of NF1 was referred to our clinic due to short stature and abnormal genital appearance. Due to dysmorphic features, a clinical diagnosis of NFNS was considered in the patient and, following molecular analysis, revealed a novel heterozygous c.3052_3056delTTAGT (p.L1018X) variant in the NF1 gene. Although evaluation for genital virilization, including karyotype and hormonal studies were normal, imaging studies revealed a diffuse genital PNF. Although PNFs are seen rarely in NFNS, this should be considered in the differential diagnosis of genital virilization in these patients to prevent unnecessary testing.

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