Epilepsy has been rarely reported with type 1 neurofibromatosis (Reckling Hausen disease). It may occur in 3 to 6% of cases. We report in this study three cases of patients with type 1 neurofibromatosis associated with epilepsy. The patients were respectively 23, 30 and 35 years old. Epilepsy was focal and complex in one patient, generalized in one case and simply focal in another one. Cerebral MRI showed sphenoidal dysplasia and temporal lobe ectopy compressing orbital structures in one patient and normal in the other cases. We discuss trough these three cases the relationship between Reckling Hausen disease and epilepsy.
Download full-text PDF |
Source |
---|
Int J Surg Case Rep
December 2024
Department of Orthopedics and Trauma-Surgery P32, University Hospital Center IBN Rochd, Casablanca, Morocco.
Introduction: Neurofibromas are rare benign tumors of peripheral nerve sheaths, and hand involvement is particularly uncommon. This case report presents a large neurofibroma located in the thenar region, a critical area for thumb opposition and hand dexterity, posing unique surgical challenges.
Presentation Of Case: A 23-year-old female presented with a 3-year history of a progressively enlarging mass in the thenar region of the right hand, accompanied by nocturnal pain but no neurological deficits.
Cancer Genomics Proteomics
December 2024
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background/aim: Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of approximately one in 3,000. More than half of the patients have new de novo pathogenic variants of the NF1 gene. In most family cases, all family members share an identical NF1-variant.
View Article and Find Full Text PDFEJNMMI Res
December 2024
Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Background: To intraindividually compare the diagnostic performance of positron emission computed tomography (F-18-FDG-PET/CT) and diffusion-weighted magnetic resonance imaging (DW-MRI) in a non-inferiority design for the discrimination of peripheral nerve sheath tumours as benign (BPNST), atypical (ANF), or malignant (MPNST) in patients with neurofibromatosis type 1 (NF1).
Results: In this prospective single-centre study, thirty-four NF1 patients (18 male; 30 ± 11 years) underwent F-18-FDG-PET/CT and multi-b-value DW-MRI (11 b-values 0 - 800 s/mm²) at 3T. Sixty-six lesions corresponding to 39 BPNST, 11 ANF, and 16 MPNST were evaluated.
Diseases
December 2024
The Leo M. Davidoff Department of Neurological Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA.
Background: Calvarial defects in NF1 are rare and lack standardized management guidelines. This study seeks to shed light on calvarial defects in NF1 patients with extensive skull erosion.
Methods: This case report focuses on clinical and radiological presentations and surgical interventions during six years of follow-up, comparing the results with those in the literature.
Cureus
November 2024
Neurosurgery, Shimane University Hospital, Izumo, JPN.
Neurofibromatosis type 1 (NF-1) is associated with vascular complications, including stenosis or the occlusion of the abdominal aorta and renal arteries. However, reports on the occurrence of extracranial vertebral artery aneurysms are scarce. A man in his 40s had back pain and was feeling unwell.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!