Neurofibromatosis type 2 (NF2) is an autosomal-dominant inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals develop schwannomas characteristically affecting both vestibular nerves leading to hearing loss and eventual deafness. Rehabilitation with...
Neurofibromatosis Type 1doi:10.1002/9781444300222.ch71multiple neurofibromascafé‐au‐lait spotsiris Lisch nodulesoptic pathway gliomasneurofibrosarcomavascular dysplasiashort stature and macrocephalyhypothalamo–pituitaryVincent M. RiccardiJohn Wiley & Sons, Ltd...
Examples of monogenic syndromes with a high prevalence of ASD symptomatology are Fragile X Syndrome (FXS), Angelman Syndrome (AS), Tuberous Sclerosis Complex (TSC), and Neurofibromatosis Type 1 (NF1) (Richards et al., 2015). In all these syndromes the mechanistic target of rapamycin (mTOR) ...
Neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is an autosomal dominant genetic disease. Patients with NF1 are prone to develop various types of tumors, including GIST [1]. For patients with NF1, GIST mainly occur in the duodenum and jejunum. Multiple primary tumors and wild...
MPNST (or neurofibrosarcoma) is a type of sarcoma that is thought to be derived from Schwann cells. It accounts for 3% to 10% of all sarcomas and is almost always associated with NF1. The approximate prevalence in patients with NF1 is 0.1% and the cumulative life-long risk is 8% to ...
We present a case of a 17-year-old quadriplegic patient with neurofibromatosis type 1 and urinoma due to the rupture of calyceal fornices in the course of nephrolithiasis. The boy was admitted with symptoms of severe pneumonia complicated with sepsis and prerenal acute kidney injury. Abdomin...
A 60-year-old gentleman with a known diagnosis of neurofibromatosis type 1 (NF1) presented with right sided hemiparesis, right sided facial palsy, and mixed aphasia. The stroke protocol pathway was initiated which included emergent CT head and CT angiography (CTA) with further assessment by MRI...
© American College of Medical Genetics and Genomics ACMG PRACTICE GUIDELINE Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Douglas R. Stewart, MD1, Bruce R. Korf, MD, Ph.D2, Katherine L. Nathanson,...
Judit Bene5, Kinga Hadzsiev5, Zoltán Maróti6, Tibor Kalmár6† and Márta Medvecz1*† Abstract Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. ...
J. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat. Rev. Cancer. 15, 290–301 (2015). 6. Le, L. Q. et al. Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development. Cancer Res. 71, 4686–4695 (2011). 7....