A fortuitous discovery of a neurofibroma in a female patient with type 1 neurofibromatosis: a case report.
Fathia HarrabiMethnani JabeurAmmar HoussemMizouni AbdelkaderBen Latifa MehdiSaiid Mohamed AmineBen Mabrouk MohamedBen Ali AliPublished in: The Journal of international medical research (2022)
Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with an autosomal dominant pattern of inheritance. This congenital disease is characterized by a wide spectrum of clinical manifestations and degree of severity. This case report describes a female patient in her early 20s who presented with a complaint of lumbosciatica-like pain evolving for several months. The condition initially escaped the attention of clinicians until a lumbar computed tomography scan and spinal magnetic resonance imaging were performed. The patient was then transferred to the general surgery department, where a clinical diagnosis of NF1 was established. The clinical manifestations were specific for this disease, including café-au-lait macules, plexiform neurofibroma, and a history of neurofibromatosis in her mother. The patient underwent surgical resection of the neurofibroma, which resulted in a favorable outcome. However, 2 years later, a new mass attached to the second lumbar spinal nerve was revealed by a follow-up computed tomography scan. Long-term and close follow-up of NF1 is required because of the high risk of malignancy and recurrence in NF1 patients.
Keyphrases
- case report
- computed tomography
- magnetic resonance imaging
- signaling pathway
- lps induced
- nuclear factor
- oxidative stress
- positron emission tomography
- end stage renal disease
- spinal cord
- newly diagnosed
- ejection fraction
- chronic kidney disease
- small molecule
- contrast enhanced
- chronic pain
- gene expression
- image quality
- working memory
- dual energy
- palliative care
- single cell
- toll like receptor
- gold nanoparticles
- quantum dots
- genome wide
- free survival
- cell proliferation
- patient reported outcomes
- reduced graphene oxide