神経線維腫症

Neurofibromatosis type 1 is a widely known phakomatosis with highly variable manifestations. However, its presentation with hemicerebral atrophy resulting from an intracranial vasculopathy is uncommon, yet it poses a major health threat. We hereby report the case of a 6-year-old boy with the clinical features of Neurofibromatosis type 1 and imaging evidence of right internal carotid artery narrowing, with subsequent ipsilateral hemicerebral atrophy, after presenting with progressive left-sided body weakness and epilepsy. This case represents a rare manifestation within the vast imaging spectrum of Neurofibromatosis type 1, highlighting how unpredictable the condition can be.

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder with an incidence of 1 in 3000 live births, and facial bone involvement is. Submucosal cleft palate is a rare association with this condition. This report presents monozygotic 13-year-old twins with suspected NF1 who were referred from the orthodontic department due to dental crowding and were found to have mandibular dysplastic changes along with a submucosal cleft palate, pseudo Class III malocclusion, and a missing tooth on panoramic radiography and CBCT. Monozygotic 13-year-old female twins presented to the orthodontic department with the chief complaint of dental crowding. The orthodontic team referred the patients for radiographic evaluation. Panoramic radiography and subsequent CBCT were performed. The presence of this spectrum of mandibular dysplastic changes together with a submucosal cleft palate, pseudo Class III malocclusion, and a missing tooth in both twins lacking classic cutaneous and ocular manifestations represents a rare presentation of NF1. This report highlights the importance of radiographic evaluation in orthodontic patients with unexplained dental crowding and malocclusion, particularly in twins, and emphasizes the role of multidisciplinary management including genetic counseling.

PURPOSE: Benign spinal tumors (BSTs) are relatively uncommon, though can yield significant morbidity as related to location and size. Surgical resection is the primary management modality for symptomatic lesions; however, for patients who are nonsurgical candidates or have progressed post-surgery, radiation therapy can be employed for definitive treatment. This institutional series describes the local control and toxicity outcomes of stereotactic body radiation therapy (SBRT) for BST. METHODS AND MATERIALS: Patients treated with SBRT for BST at a single institution from 2010 to 2021 were retrospectively reviewed and analyzed. Patients were included if they underwent treatment with SBRT with or without prior surgical intervention. Evaluation of posttreatment toxicities, symptomatic improvement, imaging response, and local control were performed. RESULTS: During the study period 31 patients were identified with a total of 36 BST. The distribution of the tumors included 16 in the cervical spine (44%), 13 thoracic (n = 36%), and 7 lumbosacral (n = 20%). Histologies included 14 schwannoma (39%), 12 meningioma (33%), and 8 hemangioma (22%), 1 melanocytic tumor (3%), and 1 neurofibroma (3%). Median radiation prescription dose was 25 Gy (range, 18-40 Gy) in 5 fractions (range, 3-5 fractions). Of the treated lesions, 17 (47%) had prior surgical management and 19 (53%) were treated upfront with SBRT. With median imaging follow-up was 49 months (range, 2-171) and the median clinical follow-up was 83 months (range, 10-171) with 86% of assessable patients having stable to improved symptoms in the treated lesion at 12 months. Two patients demonstrated progressive disease on imaging. There were no incidences of National Cancer Institute Common Terminology Criteria for Adverse Events version 4 grade 3 or greater observed toxicities and the most common toxicities were fatigue 6 (17%), and pain flare 5 (14%), both transient. There was no association between treatment course (prior surgery versus definitive radiation) and symptomatic stability or improvement, imaging response, or toxicity. CONCLUSIONS: SBRT is well tolerated for treatment of symptomatic BST with high rates of symptomatic stability or improvement. This series demonstrated acceptable local control and no high-grade toxicities.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder that presents with benign tumors of the peripheral nerve sheath, named plexiform neurofibromas. Progressive tumor growth may cause pain, physical disfigurement, and compression of adjacent structures, potentially impairing normal development during childhood. We report the case of a 13-year-old patient with a plexiform neurofibroma in the right foot, which had been growing since the first months of life and compromised the talocalcaneal joint, severely impairing the patient's quality of life. The tumor was initially deemed inoperable due to the high risk of bleeding and impairment of the functional structure. Therefore, treatment with selumetinib was started. After nearly a year, the tumor volume had decreased significantly, allowing its resection and orthopedic reconstruction surgery. Selumetinib was discontinued 3 years post-surgery to evaluate tumor stability; however, tumor regrowth occurred, and the treatment was resumed. This case highlights the neoadjuvant role of selumetinib in transforming a tumor from inoperable to operable, resulting in a substantial improvement in the patient's quality of life.