scholarly journals B - 07Language Impairment and Neurofibromatosis Type 1: A Case-Study Examining a Child with English as a Second Language

2018 ◽  
Vol 33 (6) ◽  
pp. 703-794
Author(s):  
M Bracken ◽  
M Franzen ◽  
H Dean-Hill
Keyword(s):  
Second Language ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Case Report: Chemotherapy Indication in a Case of Neurofibromatosis Type 1 Presenting Optic Pathway Glioma: A One-Year Clinical Case Study Using Differential Tractography Approach

2021 ◽  
Vol 15 ◽  
Author(s):  
Amir Mohammad Pajavand ◽  
Guive Sharifi ◽  
Amir Anvari ◽  
Farahnaz Bidari-Zerehpoosh ◽  
Mohammad A. Shamsi ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Neurofibromatosis Type 1 ◽  
Clinical Case ◽  
Neurofibromatosis Type ◽  
Statistical Analyses ◽  
Optic Pathway Glioma ◽  
Clinical Case Study ◽  
Over Time

Neurofibromatosis type 1 (NF1) is associated with peripheral and central nervous system tumors. It is noteworthy that the regions in which these tumors frequently arise are the optic pathways (OPs) and the brainstem. Thus, we decided to trace the procedure of diffusion Magnetic Resonance Imaging (dMRI) alterations along with Short-Wavelength Automated Perimetry (SWAP) examinations of the OPs after surgery and chemotherapy over 1 year, which enabled us to evaluate chemotherapy's efficacy in an NF1 patient with an OP tumor. In this study, a 25-year-old woman with NF1 and left optic radiation (OR) glioma underwent surgery to remove the glioma. Immunohistochemistry (IHC) revealed a Pilocytic Astrocytoma (PA) WHO grade I. Post-operation chemotherapy done using nine treatment cycles of administering Temozolomide (TMZ) for 5 days every 4 weeks. Applying the region of interest (ROI) differential tractography method and SWAP four times every 3 months allowed us to follow the patient's visual acuity alterations longitudinally. The differential deterministic tractography method and statistical analyses enabled us to discover the white matter (WM) tracts anisotropy alterations over time. Furthermore, statistical analyses on the SWAP results along time illustrated possible alterations in visual acuity. Then, we could compare and associate the findings with the SWAP examinations and patient symptoms longitudinally. Statistical analyses of SWAP tests revealed a significant improvement in visual fields, and longitudinal differential tractography showed myelination and dense axonal packing in the left OR after 1 year of treatment. In this study, we examined an old hypothesis suggesting that chemotherapy is more effective than radiotherapy for NF1 patients with OP gliomas (OPGs) because of the radiation side effects on the visual field, cognition, and cerebrovascular complications. Our longitudinal clinical case study involving dMRI and SWAP on a single NF1-OPG patient showed that chemotherapy did not suppress the OP myelination over time. However, it should be noted that this is a clinical case study, and, therefore, the generalization of results is limited. Future investigations might focus on genetic-based imaging, particularly in more cases. Further, meta-analyses are recommended for giving a proper Field Of View (FOV) to researchers as a subtle clue regarding precision medicine.

scholarly journals Neurofibromatosis type-1 with seizures and cerebrovascular malformation: a case study

2020 ◽  
Vol 7 (9) ◽  
pp. 1933
Author(s):  
Nishant Gopaal ◽  
Jagdish N. Sharma ◽  
Priyanshu Mathur ◽  
Vijay Agarwal ◽  
Laxman Jadoun
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Venous Blood ◽  
Neurofibromatosis Type ◽  
Female Child ◽  
Clinical Findings ◽  
The Body ◽  
Café Au Lait Spots ◽  
Cerebrovascular Malformation

Neurofibromatosis type 1 (NF1) is the most common autosomal dominant neurocutaneous among humans. Epilepsy is more prevalent in NF1 patients than in the general population. NF1 vasculopathy is also a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels. Herein, we report a 2 year old female child with seizures and multiple cafe-au-lait spots on the body. The patient was diagnosed with NF1 based on clinical findings and family history. MRI Brain revealed middle cerebral artery dysplasia. Here we discuss diagnostic and treatment challenges and briefly reviews the existing literature.

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