Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1

2018 ◽  
Vol 179 (5) ◽  
pp. 1216-1217
Author(s):  
A. Marwaha ◽  
J. Malach ◽  
A. Shugar ◽  
S. Hedges ◽  
M. Weinstein ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Phenotype Data

scholarly journals Medullary unidentified bright objects in Neurofibromatosis type 1: a case series

2018 ◽  
Vol 18 (1) ◽  
Author(s):  
Alessandra D’Amico ◽  
Federica Mazio ◽  
Lorenzo Ugga ◽  
Renato Cuocolo ◽  
Mario Cirillo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Unidentified Bright Objects

scholarly journals Early development of infants with neurofibromatosis type 1: a case series

2017 ◽  
Vol 8 (1) ◽  
Author(s):  
Anna May Kolesnik ◽  
◽  
Emily Jane Harrison Jones ◽  
Shruti Garg ◽  
Jonathan Green ◽  
...  
Keyword(s):  
Early Development ◽  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type

Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects

2020 ◽  
Vol 22 (4) ◽  
pp. 417-423
Author(s):  
Francesco Baldo ◽  
Antonio Giacomo Grasso ◽  
Luisa Cortellazzo Wiel ◽  
Alessandra Maestro ◽  
Marta Paulina Trojniak ◽  
...  
Keyword(s):  
Side Effects ◽  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Plexiform Neurofibromas ◽  
Prospective Case Series

Optical coherence tomography angiography of choroidal nodules in neurofibromatosis type-1: A case series

2021 ◽  
pp. 112067212110307
Author(s):  
Francisco Javier Moreno-Morillo ◽  
José Ignacio Fernández-Vigo ◽  
Bárbara Burgos-Blasco ◽  
Carlos Llorente-La Orden ◽  
Beatriz Vidal-Villegas ◽  
...  
Keyword(s):  
Optical Coherence Tomography ◽  
Neurofibromatosis Type 1 ◽  
Optical Coherence Tomography Angiography ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Vessel Density ◽  
Enhanced Depth Imaging ◽  
Optical Coherence ◽  
Near Infrared Reflectance

Purpose: To describe optical coherence tomography angiography (OCTA) findings in the retina and choroid of patients with neurofibromatosis type 1 (NF1). Methods: We describe a series of four patients diagnosed with NF1 and choroidal nodules who underwent a comprehensive ophthalmic evaluation including a retinal multimodal imaging study based on retinography, near-infrared reflectance imaging (NIR), enhanced depth imaging (EDI) optical coherence tomography (OCT) and OCTA. Results: Patients were three women and one man aged 36–47 years. In all patients, the choroidal nodules were not visible in retinographies but easily detectable with NIR, appearing as multiple bright patches. On OCTA, we observed reduced vessel density in the choriocapillaris in zones where choroidal nodules appeared in OCT images. In one patient, a corkscrew vessel was visible in the superficial capillary plexus. Conclusion: Choriocapillaris vessel density was reduced in zones where choroidal nodules occur in NF1 patients. Further work is needed to clarify the clinical relevance of this finding.

scholarly journals NFB-14. PSYCHOSOCIAL OUTCOMES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1 AND PLEXIFORM NEUROFIBROMAS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii420-iii420
Author(s):  
Sudarshawn Damodharan ◽  
Paige Mission ◽  
Diane Puccetti
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Phenotypic Variability ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Attention Problems ◽  
Social Emotional ◽  
Plexiform Neurofibromas ◽  
Peripheral Nerve Sheath Tumors ◽  
Wide Range

Abstract OBJECTIVE This case series seeks to examine neurocognitive outcomes, social-emotional functioning, and family burden in young children diagnosed with Neurofibromatosis, type 1 (NF1) with early growing plexiform neurofibromas (PNFs). BACKGROUND Neurofibromatosis, type 1 (NF1) is a common predisposing chronic disease arising in early childhood, with an incidence of approximately 1:3000. Though NF1 displays a wide range of phenotypic variability, the primary feature of the disease is peripheral nerve sheath tumors called neurofibromas. Less is well known regarding the broader neurocognitive and social-emotional profile in presentations with more complex tumor growths, namely PNFs, which are present in at least half of the NF1-affected population. METHODS Participants with NF1 and PNFs (n=2) aged 6-7years completed comprehensive neuropsychological evaluations and parents completed measures of quality of life, social-emotional/behavioral functioning of child, parental stress, family adaptability, and family cohesion. RESULTS Outcomes suggest broad neurocognitive dysfunction (e.g., executive functioning deficits, attention problems, visual-motor delays, and poor motor coordination), social-emotional challenges (e.g., symptoms of anxiety and depression, and poor social skills), and familial distress. CONCLUSIONS Findings indicate the value of early and frequent monitoring of children with PNFs in medical systems and multi-disciplinary teams, and the importance of early intervention for both children and families.

scholarly journals Breast cancer associated with neurofibromatosis type 1: a case series and review of the literature

2015 ◽  
Vol 9 (1) ◽  
Author(s):  
Jihane Khalil ◽  
Mohamed Afif ◽  
Hanan Elkacemi ◽  
Meryem Benoulaid ◽  
Tayeb Kebdani ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Neurofibromatosis Type 1 ◽  
Case Series ◽  
Neurofibromatosis Type ◽  
Review Of The Literature
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