Background: The dental management of a patient presenting with both Down syndrome and neurofibromatosis type 1 (NF1) has not previously been described well in the dental literature.
Case Description: A 20-year-old male with both of these genetic anomalies sought comprehensive treatment at the Special Needs Dental clinic at the Arizona School of Dentistry and Oral Health. He presented with multiple decayed surfaces, retained primary teeth, and intra/extra oral soft tissue tumors. Dental extractions and tumor reduction surgery took place at a private dental office due to the need for intravenous sedation for patient management. At the conclusion of the patient's -treatment, while his oral health was improved, there was little improvement in the facial aesthetics of his case.
Clinical Implications: Coordinating care among health care providers in a patient with Trisomy 21 and NF1 is essential for a reliable and predictable outcome. However, as neurofibromas are often known to recur, the treatment risks and advantages should be reviewed prior to surgical intervention.
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http://dx.doi.org/10.1111/scd.12062 | DOI Listing |
Rasopathies, including Noonan Syndrome (NS) and Neurofibromatosis type 1 (NF1), are developmental disorders caused by germline mutations in genes of the RAS/mitogen-activated protein kinase pathway (RAS-MAPK). This study investigates irritability, a highly prevalent transdiagnostic construct, in children with Rasopathies and the impact of Rasopathy status on the associations between irritability, emotional dysregulation-related disorders, and social skills impairments. The sample comprise 174 children aged 4-17 (age mean = 9.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Neurosurgical Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka.
Introduction: Schwannoma is a type of slow growing benign nerve sheath tumor arising from Schwann cells. Peripherally, they are found in association with the ulnar, sciatic and posterior tibial nerves. Peripheral schwannomas, neurofibromas and malignant PNSTs are collectively grouped as peripheral nerve sheath tumors.
View Article and Find Full Text PDFEur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFAbdom Radiol (NY)
December 2024
Department of Radiology, The First Affiliated Hospital, Sun Yat-Sen University, No.58, Second Zhongshan Road, Yuexiu District, Guangzhou, Guangdong, 510080, China.
Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis.
View Article and Find Full Text PDFFront Neurol
November 2024
Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.
Background: Neurofibromatosis Type 1 (NF1) is a congenital neurocutaneous disorder. As NF1 is incurable and presents with a wide range of physical and mental symptoms, knowledge of neurocognitive and behavioral functioning can be an important aid in understanding their functional impact, and developing treatment options. To date, studies in children with NF1 have shown dysfunction in several domains, but much less is known about cognition and behavior in adults with NF1.
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