Neurofibromatosis type I is a genetic condition with an autosomal dominant transmission characterized by neurocutaneous involvement and a predisposition to tumor development. Central nervous system manifestations include benign areas of dysmyelination and possibly hazardous glial tumors whose clinical management may result challenging. Here, we report on three patients diagnosed with Neurofibromatosis type I whose brain MRI follow-up showed the presence of gadolinium-enhancing lesions which spontaneously regressed. In none of the three cases, the lesions showed any clinical correlate and eventually presented a striking reduction in size while gadolinium enhancement disappeared despite no specific therapy administration during the follow-up. Although their nature remains undetermined, these lesions presented a benign evolution. However, they might be misdiagnosed as potentially life-threatening tumors. Hitherto, a similar behavior has been described only in scattered cases and we believe these findings may be of particular interest for the clinical management of patients affected by neurofibromatosis type I.
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http://dx.doi.org/10.1007/s11547-015-0587-0 | DOI Listing |
J Clin Med
January 2025
"Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
Neurofibromatosis is a genetic disorder arising de novo or with an autosomal dominant transmission that typically presents either at birth or in early childhood, manifesting through distinctive clinical features such as multiple café-au-lait spots, benign tumors in the skin, bone enlargement, and deformities. This literature review aims to resume the spectrum of maternal and fetal complications encountered in pregnant women with neurofibromatosis type 1 (NF1). Thorough research was conducted on databases such as Web of Science, PubMed, Science Direct, Google Scholar, and Wiley Online Library.
View Article and Find Full Text PDFJ Clin Med
January 2025
Department of Spine Surgery, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
: Surgery for adolescent idiopathic deformities is often aimed at improving aesthetic appearance, striving for the best possible correction. However, severe and rigid scoliotic curves not only present aesthetic issues but can also compromise cardiopulmonary health and cause early neurological impairment due to spinal cord compression, posing significant risks of morbidity and mortality if untreated. Conservative treatments are ineffective for severe curves, defined by scoliotic angles over 70° and flexibility below 30% on lateral bending X-rays.
View Article and Find Full Text PDFMedicina (Kaunas)
January 2025
Department of Orthopedic Surgery, Anam Hospital, Korea University College of Medicine, 73 Goryeodae-ro Seongbuk-gu, Seoul 02841, Republic of Korea.
Distal tibia fractures are high-energy injuries characterized by a mismatch between standard plate designs and the patient's specific anatomical bone structure, which can lead to severe soft tissue damage. Recent advancements have focused on the development of customized metal plates using three-dimensional (3D) printing technology. However, 3D-printed metal plates using titanium alloys have not incorporated a locking system due to the brittleness of these alloys.
View Article and Find Full Text PDFMedicina (Kaunas)
December 2024
Department of Pharmacy, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia.
Rupture of the thyrocervical trunk aneurysm into the thoracic cavity does not occur very often. It is an urgent condition due to hemorrhagic shock by massive hemothorax with potentially fatal consequences. Pregnancy and puerperium are additional risk factors for a rupture of the thyrocervical trunk aneurysm in patients with neurofibromatosis and aneurysms.
View Article and Find Full Text PDFCancers (Basel)
January 2025
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, 9030 Old Georgetown Road, Bethesda, MD 20892-8200, USA.
Background: Oral therapeutic options for plexiform neurofibromas (PNs) in individuals with neurofibromatosis type 1 (NF1) are receiving attention in clinical research. The MEK inhibitor (MEKi) Selumetinib is FDA-approved in children ages 2+ years with inoperable PNs, and shows activity in adults. Prolonged therapy with selumetinib is necessary to maintain tumor reduction.
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