Abstract
BackgroundNeurofibromatosis type 1 (NF1) is a common human genetic disease with age-dependent phenotype progression. The overview of clinical and radiological findings evaluated by whole-body magnetic resonance imaging (WBMRI) in NF1 patients < 3 years old assessed with a genetic contribution to disease progression is presented herein.MethodsThis study included 70 clinically or genetically diagnosed NF1 patients who received WBMRI before 3 years old. Clinical, genetic, and radiologic features were collected by retrospective chart review. In NF1+, widely spread diffuse cutaneous neurofibromas, developmental delay, autism, seizure, cardiac abnormalities, hearing defect, optic pathway glioma, severe plexiform neurofibromas (> 3 cm in diameter, disfigurement, accompanying pain, bony destruction, or located para-aortic area), brain tumors, nerve root tumors, malignant peripheral nerve sheath tumors, moyamoya disease, and bony dysplasia were included.ResultsThe age at WBMRI was 1.6 ± 0.7 years old, and NF1 mutations were found in 66 patients (94.3%). Focal areas of signal intensity (FASI) were the most common WBMRI finding (66.1%), followed by optic pathway glioma (15.7%), spine dural ectasia (12.9%), and plexiform neurofibromas (10.0%). Plexiform neurofibromas and NF1+ were more prevalent in familial case (28.7% vs 5.7%, p = 0.030; 71.4% vs 30.2%, p = 0.011). Follow-up WBMRI was conducted in 42 patients (23 girls and 19 boys) after 1.21 ± 0.50 years. FASI and radiologic progression were more frequent in patients with mutations involving GTPase activating protein-related domain (77.8% vs 52.4%, p = 0.047; 46.2% vs 7.7%, p = 0.029).ConclusionsWBMRI provides important information for the clinical care for young pediatric NF1 patients. As NF1 progresses in even these young patients, and is related to family history and the affected NF1 domains, serial evaluation with WBMRI should be assessed based on the clinical and genetic features for the patients’ best care.
Highlights
Neurofibromatosis type 1 (NF1; OMIM#16220) is one of the most common genetic diseases with an incidence of approximately one in 3000 individuals [1, 2]
Neurofibromin consists of multiple domains: an N-terminal cysteine-serine rich domain (CSRD), a central GTPaseactivating protein-related domain (GRD) with a tubulin-binding domain in N-terminus, a phospholipid- and protein-interaction domain, and a C-terminal domain [8]
Clinical characteristics and whole‐body MRI findings of the patients whole-body magnetic resonance imaging (WBMRI) was performed on 70 children with NF1 (41 girls and 29 boys) at the mean age of 1.6 ± 0.7 years
Summary
Neurofibromatosis type 1 (NF1; OMIM#16220) is one of the most common genetic diseases with an incidence of approximately one in 3000 individuals [1, 2]. It is characterized by heterogeneous involvements of multiple organ systems with variable expressivity [3]. Neurofibromin is a multifunctional protein that is essential for embryonic development and is ubiquitously expressed. As a main regulator of the rat sarcoma virus (RAS)–mitogen-activated protein kinases (MAPK) pathway, it affects various cellular processes (e.g., proliferation, growth, division, survival, and migration) in cells of different tissues [6, 7]. Neurofibromatosis type 1 (NF1) is a common human genetic disease with age-dependent phenotype progression. The overview of clinical and radiological findings evaluated by whole-body magnetic resonance imaging (WBMRI) in NF1 patients < 3 years old assessed with a genetic contribution to disease progression is presented
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