- The authors seem somewhat confused on the purpose of the manuscript. It might be acceptable to add one or 2 lines in the entire manuscript about her psychosocial challenges but this does not need to be highlighted and certainly does not belong in the abstract. ; Sozen, S.; Deniz, N. Neurofibromatosis Type 1 with Bladder Involvement. As such, the remainder of this article is a general discussion focusing on the most common localized intraneural neurofibromas which are by far the most common form of neurofibroma, representing 90% of these lesions 2. se manifiesta por un engrosamiento y reemplazamiento En los pacientes afectos de NF-1, los TMNP se del nervio con persistencia periférica de las células presentan como un . dominant inherited disease, with full penetrance and variable expressiveness, high rate A diagnosis of NF1 PN can affect the entire family. La Biblioteca Virtual en Salud es una colección de fuentes de información científica y técnica en salud organizada y almacenada en formato electrónico en la Región de América Latina y el Caribe, accesible de forma universal en Internet de modo compatible con las bases internacionales. If this was meant to describe a case report of a bladder ganglioneuroma in an adolescent with familial NF1, they need to stick to discussing/presenting this point. ICH GCP. Axillary or inguinal freckles (Crowe sign; lentiginous macules); 4. isointense signal on T1-weighted sequence and hypointense signal on T2-weighted Érica Bertolace Slaibi, João Gabriel Lima Daher, [...], and Márcia Gonçalves Ribeiro. There is nothing unique about this patient also having a labial plexiform.”. Slaibi EB, Daher JGL, Fonseca GGG, Daher CM, Geller M, Ribeiro MG. Clinical and Point 2: The authors seem somewhat confused on the purpose of the manuscript. The aim is to provide a snapshot of some of the But learning more about the condition and maintaining an open dialogue with your child’s healthcare team can make a big difference in your child’s journey. Plexiform neurofibroma is an uncommon variant of neurofibroma, a benign tumor of peripheral nerves (WHO grade I), arising from a proliferation of all neural elements. Nodules of the plexiform type were sur-rounded by a thin fibrous capsule (Fig. Rua Voluntários da Pátria, 401, Centro. An abdominal ultrasound was performed and detected a tumor in the bladder; the imaging investigation was completed with an uro-computed tomography, cranial and spine magnetic resonance imaging (MRI). Large pelvic masses may correspond to plexiform Distinct bone lesions; 5. meses. of the PNF was observed in the present case. literatura. unnecessary to confirm the diagnosis(9). EVOLVING THERAPIES (RM BUKOWSKI, SECTION EDITOR) Neurofibromatosis in the Era of Precision Medicine: Development of MEK Inhibitors and Recent Successes with Selumetinib The changes we have made in the manuscript are highlighted. signs of PN that may be impacting your child, Learn about a treatment option for NF1 PN. Diagnostics. Point 4: The term "mutation" needs to be replaced with the term "pathogenic variant.". Fatigue. We use cookies on our website to ensure you get the best experience. of mutations, wide clinical spectrum and intrafamilial variability. A 10-year-old boy presented with a painless progressive swelling on the nape of the neck of 8 years' duration. Their listing on this website does not imply endorsement. the presence of a tumor mass of neural nature, compatible with PNF. Brazil. instructed to communicate any clinical alteration, particularly in relation to pain and This tumor is a symptom of a group of rare, inherited conditions called neurofibromatosis. When Pulmonologists Are Novice to Navigational Bronchoscopy, What Predicts Diagnostic Yield? Plexiform Neurofibroma. ; supervision, V.Ţ. A surgeon will help decide if removing a tumor is possible. management of symptoms(1,5). From the archives of the AFIP. bladder and from prostatic nerve plexus. A case of sarcoma of the urinary bladder in von Recklinghausen’s. lumbosacral MRI demonstrated the presence of isointense nodular lesions at T1-weighted thousand in Brazil(1). - Imagistic - this word is used multiple times in the manuscript. Clinical signs It’s important that you: By completing this registration, you are confirming that you are at least 18 years old and a United States citizen. We made a case presentation in its entirety, and the patient presented more than a ganglionerinoma. ; Anton Păduraru, D.T. 6PhD of Biological Sciences (Genetics), Associate Professor, Department of Surgery II-Pediatric Surgery, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, Romania, Department of Morphofunctional Sciences I–Pathology, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, Romania, Department of Mother and Child Medicine–Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, Romania, Department of General Nursing, Faculty of Medicine and Biological Sciences, “Ştefan cel Mare” University of Suceava, 720229 Suceava, Romania, Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, Romania, Department of Preventive Medicine and Interdisciplinarity, ”Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, Romania, Department of Surgery, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, Romania. The aim of our study, in addition to a brief review of the literature of these pathologies, is to bring to your attention the case of a patient with a very rare association of neurofibromatosis type 1 and bladder ganglioneuroma. NF1-related plexiform neurofibromas (PN) are benign tumors that can have a significant impact on children. relation to muscle on T1-weighted sequences; and on T2-weighted sequences, the lesions Nicklaus Children’s Hospital has several outpatient and urgent care centers throughout South Florida, including on-demand, virtual care. MR images (target sign). Title: FDA approves first ever treatment for neurofibromatosis Subject: FDA approves first ever treatment for neurofibromatosis Created Date: 12/15/2022 11:17:48 PM Two months later, Articles published in English and their reference lists were analyzed for other relevant cases. And there’s reason to be hopeful—NF1 research is ongoing, with the goal of developing treatments for children affected by this rare disease. The study was conducted according to the guidelines of the Declaration of Helsinki. 4a), a characteristic not shared by classic schwannoma. This type of Los neurofibromas plexiformes son una forma poco frecuente y benigna (no cancerosa) de tumor que se puede presentar casi en cualquier parte del cuerpo, como la cara, el brazo, la espalda, el pecho, las piernas y en cualquier otra parte. and L.I.B. Physical examination results Please visit azprivacynotice.com to review our Privacy Notice. Nunes TF, Costa RP, Navarro FC. typical bone alterations, Lisch nodules and positive family history, besides other The psychological examination revealed emotional disorders and borderline intellectual and learning difficulties. 一、I型神经纤维瘤病的发病机制与治疗靶点. Plexiform neurofibromas typically present in children during the first decade of . They primarily affect superficial cutaneous nerves, but occasionally affect larger deep-seated nerves. sequence, and hyperintense nodular lesions at T2-weighted and STIR sequences. For more information, please refer to Here are some examples of how to publish an NF1 case report: A rare case report of neurofibromatosis type 1 in a 12-year-old child: A 15-month follow-up - PMC (nih.gov), Multiple neurofibromas plus fibrosarcoma with familial NF1 pathogenicity: A case report - PubMed (nih.gov). Dähnert WF. Papers are submitted upon individual invitation or recommendation by the scientific editors and undergo peer review The clinical manifestations of neurofibromatosis type 1 are variable, and Infrequent hypocellular Antoni B areas (majority entirely hypercellular Antoni A) Associated with NF1. PN can quickly grow to larger sizes and may start to cause symptoms, including: PN aren’t always easy to notice in children with NF1. NF1 is a rare, progressive condition caused by a mutation or flaw in a particular gene. and V.Ţ. Pós-Graduação Médica Carlos Chagas (IPGMCC), Teacher and Coordinator, Unit of permission is required to reuse all or part of the article published by MDPI, including figures and tables. and V.Ţ. bladder, and with no cleavage plane with the prostate and bladder (Figure 2). 2. So . Multiple requests from the same IP address are counted as one view. sequence. and M.M. Hypocellular with abundant mucinous matrix. Cheng L, Scheithauer BW, Leibovich BC, et al. Please let us know what you think of our products and services. Find support for a specific problem in the support section of our website. Neurofibroma. interesting to readers, or important in the respective research area. 2014 Sep-Oct; 47(5): 326–328. Saunders Company. No special Until the present moment, no significant sign of increase in size They veer off topic multiple times. Lines 224-225 – We deleted these lines at your suggestion. Most neurofibromas don't cause medical problems. and M.M. It predominantly affects young children. Knowing more about the disease can allow you to have more informed conversations with your child’s doctor. 12: 3126. It is an autosomal articles published under an open access Creative Common CC BY license, any part of the article may be reused without This is a case report about ganglioneuromas. 1Trainee in Dermatology at Instituto de Dermatologia Prof. PN form differently in every child, and some can be removed by surgery to improve appearance or function. You are accessing a machine-readable page. 12: 3126. ; validation, E.Ţ., D.T.A.P. Plexiform Neurofibromas usually occur in a major nerve. A majority of these tumors are benign. lesions vary in size and are located at the level of the neural foramens, with Surgical removal was contraindicated and the patient underwent While they are seen in people without NF1, the presence of two or more of these tumors should raise the suspicion of NF1. *Based on a National Cancer Institute NF1 Natural History study of 93 patients with a median observation period of 6.8 years (range: 1 to 17.7 years). The recently revised criteria for NF1 incorporated new clinical features (choroidal anomalies) and genetic testing [, Ganglioneuromas are benign tumors developing from the neural crest cells of the autonomic nervous system, and are considered to be part of neuroblastic tumors (neuroblastoma, ganglioneuroblastoma, and ganglioneuroma). El neurofibroma plexiforme, y la utilización de técnicas moleculares para su correcto característico de la NF-1 y de localización intraneural, diagnóstico (Tabla I). 4. and A.C.L. US/UNB-NF1/0003 9/22, 3 out of There is, however, a strong association with neurofibromatosis type 1 (NF1), particularly for the plexiform subtype. Visconde do Rio Branco, MG, Brazil, 36520-000. There are several patient advocacy groups that can provide information and support to families who are dealing with NF1. American journal of roentgenology. Descrição de caso de neurofibroma plexiforme localizado na região pélvica This is not an association. - The authors should give a comprehensive list of her NF1 manifestations somewhere early in the report - as best I can tell, these include CAL spots, axillary/inguinal freckling, dystrophic scoliosis, pelvic/labial plexiform neurofibroma and intellectual disability/learning problems. (2007) ISBN:0781766206. We followed your recommendations and deleted the mentioned figures. Lumbosacral column MRI showing isointense ovoid and elongated images on neurofibromatosis-1. This type of neurofibroma originates from nerves in the pelvis, It occurs in approximately 1 out of every 3000 individuals. Response 4: We made the corrections, thank you. This type of neurofibroma grows along the length of the nerve and often involves multiple fascicles. W.B. 190 (3): 582-8. In certain instances, debulking has been shown to reduce symptoms caused by plexiform neurofibromas (PNs). El selumetinib (Koselugo) es un tratamiento para el neurofibroma plexiforme en los niños. ; Tantu, M.M. *Study developed at Centro Nacional de Neurofibromatose (CNNF), Instituto de Nacional de Neurofibromatose (CNNF), Rio de Janeiro, RJ, Brazil. It’s important to look out for physical The recently revised criteria for NF1 incorporated new clinical features (choroidal anomalies; nevus anemicus) and genetic testing [Legius3]. 2022. bladder is affected, with occurrence of obstructive symptoms, urinary incontinence, along nerves anywhere in the body. Associated with NF2 . and L.M.T. The authors report the case of a plexiform neurofibroma located in the pelvis, Your recommendations and comments have helped us improve our manuscript. aspectos na tomografia computadorizada e ressonância magnética - relato de caso e neurofibromas; Lisch nodules; thoracic scoliosis) and prostate enlargement was found at Plexiform neurofibroma occurs in 16-40% of cases of and A.S.M.P. Subsequently, the patient was multidisciplinary investigated (genetic, cardiological, nephrological, neurological, neurosurgical, ophthalmological, neuropsychiatric, orthopedic, anatomopathological, radiological, endocrinological), performing a complex clinical-paraclinical assessment. The bladder is elongated, distended and anterosuperiorly Thank you again for reviewing our manuscript. Neurofibromatosis type 1 (NF1) is the most common phakomatosis. Here are some ways you can help your child better cope with the challenges: NF1 can cause a lot of uncertainty, so creating schedules can help children feel more secure and give them a sense of control. Diagnostics 2022, 12, 3126. Visit >, Visit the Neurofibromatosis Network website to discover news about treatment and their work toward a neurofibromatosis cure. https://doi.org/10.3390/diagnostics12123126, Subscribe to receive issue release notifications and newsletters from MDPI journals, You can make submissions to other journals. along the sciatic nerve and intermingled with the gluteus muscle. Cirugías y otros . Six or more café-au-lait macules over 5 mm in diameter in prepubertal persons or over 15 mm in post pubertal individuals; 2. However, when multiple neurofibromas are present (or plexiform neurofibromas) then the diagnosis of neurofibromatosis type 1 is almost assured. Commons Attribution Non-Commercial License which permits unrestricted unexpected rare findings. Paragraph 4 is well written. Radiology Review Manual. The ePub format is best viewed in the iBooks reader. Los exámenes complementarios confirmaron el presunto diagnóstico de neurofibroma plexiforme gigante del nervio ciático. The aim is to provide a snapshot of some of the delete figures 1/plexiform, figure 2/scoliosis - this case report is not about these findings. Geoerger, B.; Hero, B.; Harms, D.; Grebe, J.; Scheidhauer, K.; Berthold, F. Metabolic activity and clinical features of primary ganglioneuromas. measured 11.5 × 6.7 × 6.0 cm and was in close relationship with the prostate base and Serving as your child's primary doctor's office. rectal digital examination. Kamatam, N.; Rayappan, E.; Smile, S.; Vivekanandan, R. Large ganglioneuroma presenting as presacral mass. the posterior wall of the bladder. Ţarcă, E.; Cojocaru, E.; Trandafir, L.M. Pediatric soft-tissue tumors and pseudotumors: MR imaging features with pathologic correlation: part 2. Response 10: We decided to keep the figure 7 and discussed about her short stature and severe kyphoscoliosis, which also contributed to her low self-esteem. The patient declared a low quality of life and low self-confidence due to both problems and we consider it important to present the case under all its aspects. gliomas, glioneuronal tumors, and neuronal tumors, diffuse astrocytoma, MYB- or MYBL1-altered, polymorphous low-grade neuroepithelial tumor of the young, diffuse low-grade glioma, MAPK pathway-altered, pediatric-type diffuse high-grade gliomas, diffuse hemispheric glioma, H3 G34-mutant, diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype, diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (provisional inclusion), supratentorial ependymoma, ZFTA fusion-positive, supratentorial ependymoma, YAP1 fusion-positive, medulloblastoma, SHH-activated and TP53-wildtype, medulloblastoma, SHH-activated and TP53-mutant, cribriform neuroepithelial tumor (provisional inclusion), CNS tumor with BCOR internal tandem duplication, circumscribed meningeal melanocytic neoplasms. 28928/10.10.2022). Imaging of peripheral nerve sheath tumors with pathologic correlation: pictorial review. Plexiform neurofibromas are among the most common and debilitating complications of neurofibromatosis type 1 (NF1). It is not a medical term but refers to the, Line 265 - Exactly what tumors are they referring to here with " a rare malignant transformation rate. Castillo PMC, Gregorio SA, Alcaide JRC, et al. That's how they get their name: "neuro" means nerves, and "fibroma" is a type of tumor. Descrição de caso de neurofibroma plexiforme localizado na região pélvica comprometendo bexiga, próstata e coluna lombossacra, com evolução de três anos e seis meses. Neurofibromatosis 1. manifestation. neurofibromas, so the diagnostic hypothesis of neurofibromatosis should be taken into hemorrhage, or heterogeneous contrast uptake) indicate malignancy(6,7). Response 15: We have considerably shortened the length of the two paragraphs. Sign up below to learn about the latest NF1 and PNs research, Lack of mobility and diminished range of motion, NF1 and its symptoms can cause a lot of uncertainty. Allowing them to take more control over their treatment decisions and medications can encourage greater responsibility. ; Melinte Popescu, M.G. It appears in an estimated 1 out of every 3000 infants. tissue sarcomas). Laffan EE, Ngan BY, Navarro OM. We cannot discuss ganglioneurinoma exclusively and not mention the labial plexiform neurofibroma, which is quite rare (only 80 cases presented in the specialized literature) and also affected the patient’s life. Neurofibromatosis 1 (NF1) is usually diagnosed during childhood. Tiutiucă, R.C. We used Medical Subject Headings MeSH term “neurofibromatosis type 1” and “bladder ganglioneuroma” and performed a PubMed literature search for systematic reviews, randomized controlled trials, observational studies, and series of cases studies and case reports from the earliest possible date to September 2022. In 2004, 1.5 million NF1 cases were reported in the world, 80 Plexiform neurofibromas are a rare, benign (non-cancerous) form of tumor that can occur almost anywhere in the body, such as the face, arm, back, chest, legs and elsewhere. This website is designed to help you better understand NF1 PN. Plexiform neurofibromas are also subject to transformation into malignant peripheral nerve sheath tumor . NF1 is usually treated by a team of doctors and health care specialists, including geneticists, neurologists, oncologists, surgeons, and other providers who specialize in treating symptoms related to NF1 and plexiform neurofibromas (PNs). Editor’s Choice articles are based on recommendations by the scientific editors of MDPI journals from around the world. neurofibromatose tipo 1, as manifestações clínicas são diversas e a equipe médica See further details. are hyperintense and may present hypointense septations(9). We are sorry, but we do not agree to delete these comments since these two conditions are part of the presented case and the patient requires specific treatment for both. The tumor has the potential to infiltrate into the surrounding soft tissues. Gross, A.M.; Wolters, P.L. Radiographics. - Line 50-51: It is generally not cited that NF1 occurs more in men than women. Two or more hamartomas of the iris (Lisch nodules) or two or more choroidal abnormalities; 7. They are considered WHO grade 1 tumors in the 5th edition (2021) WHO classification of CNS tumors 6. - I do not think the fact that this patient had suicide attempts/emotional issues should be highlighted. - I am not sure Figure 7 is necessary since her scoliosis is not relevant to the focus of the case report and is not addressed elsewhere in the paper. The patient was Mailing Address: Dra. A neurofibroma is a benign tumor that develops along your nerve cells. Williamson, S.R. The Alexion logo is a registered trademark of Alexion Pharmaceuticals, Inc. © 2022, Alexion Pharmaceuticals, Inc. All rights reserved.
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neurofibroma plexiforme