Systematic Review and Meta-Analysis: Attention-Deficit/Hyperactivity Disorder Symptoms in Children With Neurofibromatosis Type 1.

Objective: This meta-analysis aimed to robustly estimate differences in attention-deficit/hyperactivity disorder (ADHD) symptoms between children and adolescents with and without neurofibromatosis type 1 (NF1).

Method: Systematic literature searches were conducted in Scopus, PsycINFO, Web of Science, PubMed, and ProQuest in September 2022 with a supplemental search conducted in Google Scholar in February 2023. The searches identified 2153 unique articles.

Genetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.

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.

Phase II Study of Defactinib (VS6063) in Patients With Tumors With Loss: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol U.

Purpose: The NCI-MATCH trial assigned patients with solid tumors, lymphomas, or multiple myeloma to targeted therapies on the basis of identified genetic alterations from tumor biopsies. In preclinical models, ()-inactivated tumors display sensitivity to focal adhesion kinase (FAK) inhibition. The EAY131-U subprotocol evaluated the efficacy of defactinib, a FAK inhibitor, in patients with -altered tumors.

Clinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.

Objective: To catalog and correlate the clinical features and mutational spectrum of neurofibromatosis type 1 (NF1) patients attending a tertiary care center in India.

Methods: NF1 patients with confirmed molecular diagnosis from 2014 to 2021 were included in the study. The molecular tests used for the diagnosis were exome sequencing, targeted gene sequencing, and Multiple Ligation Probe Assay.

Bevacizumab for Vestibular Schwannomas in Neurofibromatosis Type 2: A Systematic Review of Tumor Control and Hearing Preservation.

: Vestibular schwannomas (VSs), also called acoustic neuromas, are benign tumors affecting the vestibulocochlear nerve, often leading to hearing loss and balance issues. This condition is particularly challenging in patients with neurofibromatosis type 2 (NF2), where VSs tend to develop bilaterally. Conventional treatments, such as surgery and radiotherapy, although effective, carry risks like hearing loss and nerve damage.

Recent Developments in Surgical Treatment of Spinal Deformity in Pediatric Patients: Experience from a Single-Center Series of 42 Neurofibromatosis Type 1 Patients.

Background: The management of spinal deformities in patients with NF-1 is challenging. The study aimed to assess the outcomes of the surgical treatment of spine deformities in children with neurofibromatosis type 1 with our treatment approach.

Methods: A retrospective single-center study on pediatric patients with spinal deformities associated with NF-1 who received surgical treatment between 2006 and 2024.

Spinal intradural malignant peripheral nerve sheath tumor at the foramen magnum in a non-neurofibromatosis child.

Primary spinal intradural malignant peripheral nerve sheath tumors (MPNSTs) are rare neoplasms, especially in children with a non-neurofibromatosis background. Scarce pediatric data exist with regard to such tumors. A 4-year-old child with a history of spastic limb weakness was operated for a foramen magnum spinal lesion (intradural and extradural) with imaging suggestive of schwannoma; the histopathology, however, was that of a MPNST.

Cognition and behavior in adults with neurofibromatosis type 1.

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.

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.

Background: Neurofibromatosis type 1 is an autosomal dominant disorder predisposing to numerous tumors. Sporadic mutations account for half of the cases. They can occur on a mosaic pattern, which might remain undiagnosed, depending on the clinical phenotype.

Precocious Puberty in Children with Neurofibromatosis Type 1.

This multi-institutional, descriptive study of 19 children with neurofibromatosis 1 examines the link between optic pathway gliomas (OPGs) and central precocious puberty (CPP). We report that CPP can arise without OPG chiasmal involvement and that prior OPG chemotherapy does not prevent the development of CPP.

Next-generation variant exon screening: Moving forward in routine genetic disease investigations.

Purpose: Patients with genetic diseases often seek testing to reach a firm diagnosis. Based on clinical phenotypes, exome sequencing for small-nucleotide variations or array-based methods for copy-number variations (CNVs) are commonly offered to identify the underlying causative genetic variants. In this study, we investigated whether data from a standard ES test could be used to additionally identify pathogenic CNVs and increase diagnostic yield.

Secondary childhood glaucoma in neurofibromatosis type 1: an unusual corneal leukoma case report.

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that affects the skin, eyes and peripheral nervous system. It is rarely associated with glaucoma, especially in pediatric patients. We herein report an unusual case of corneal degeneration in a child with NF1, characterized by peripheral corneal leukoma and a membrane under Descemet's membrane.

[Pituicitoma in a patient with neurofibromatosis type 1].

Pituicytoma is a rare low degree tumor that arises from pituicytes in the infundibulum and posterior pituitary gland. As they do not have characteristic radiological features, they can be misdiagnosed as pituitary adenoma, meningioma, or craniopharyngioma. Clinically, patients can present with hormonal disturbances, headaches and visual field defects.

Elucidating Microstructural Alterations in Neurodevelopmental Disorders: Application of Advanced Diffusion-Weighted Imaging in Children With Rasopathies.

Neurodevelopmental disorders (NDDs) can severely impact functioning yet effective treatments are limited. Greater insight into the neurobiology underlying NDDs is critical to the development of successful treatments. Using a genetics-first approach, we investigated the potential of advanced diffusion-weighted imaging (DWI) techniques to characterize the neural microstructure unique to neurofibromatosis type 1 (NF1) and Noonan syndrome (NS).

Sonographic Characterization of Red-Blue Neurofibromas in Patients With Neurofibromatosis Type 1: An Observational Prospective Study.

Objectives: Red-blue neurofibromas (RBNs), found in up to 29% of adult neurofibromatosis type 1 (NF1) patients, present as red-blue macules measuring 1-2 cm in diameter, primarily on the trunk. Despite their prevalence, RBNs often go unnoticed due to their subtle appearance. Ultrasound characterization serves as a diagnostic clue yet lacks comprehensive studies in both adult and pediatric populations.

A rare case of isolated nasal tip neurofibroma in an 11-year-old female without neurofibromatosis: A case report.

Introduction And Importance: Isolated neurofibromas of the nasal tip are uncommon, particularly in pediatric patients. Neurofibromas are benign tumors that arise from the peripheral nerve sheath and are usually associated with neurofibromatosis type 1 (NF1). Isolated cases present unique challenges due to their location and the importance of cosmetic outcomes.

Trigeminal malignant peripheral nerve-sheath tumor: Systematic review, and case report treated by proton-beam therapy.

Background: Malignant peripheral nerve-sheath tumor (MPNST) is rare, occurring in approximately 0.001% of the general population. Cases involving cranial nerves, and particularly the trigeminal nerve (V), are exceptionally rare, with only 36 cases reported in a literature review in 2013.

Hyperostotic meningiomas in children. A case-based update.

Background: Meningiomas are rare tumors in children compared with adults. Their main peculiarities are the frequent convexity or intraventricular location, the common association with neurofibromatosis-2 (NF-2) and the relatively high rate of aggressive and/or hyperostotic variants. Hyperostosis may complicate the surgical management.

Pediatric Intracochlear Schwannoma: Case Series and Review of the Literature.

Background: Intracochlear schwannomas (ICSs) are a subtype of intralabyrinthine schwannomas, completely located in the cochlear lumen. ICSs are particularly rare in the pediatric population. Putative diagnosis is made on the basis of magnetic resonance findings with signal characteristics that should remain the same at follow-up imaging.

Endovascular salvage of renal artery bypass in pediatric a patient with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a congenital vasculopathy that can affect the renal arteries, causing renovascular hypertension. We report a complex case of a pediatric NF1 patient who required endovascular salvage of a renal artery bypass. Treatment for pediatric renovascular NF1 requires close surveillance and the ability to pivot to rescue therapies.

An Unusual Presentation of Urinary Retention in a Young Male Patient With Neurofibromatosis Type 1.

Acute urinary retention (AUR) in young adults is an uncommon presentation often signalling an underlying pathology, particularly when associated with genetic conditions like neurofibromatosis type 1 (NF1). We report the case of a 25-year-old male with a known family history of NF1, who presented with acute urinary retention and progressive pelvic pain. Physical examination was notable for axillary freckling and café-au-lait spots, consistent with NF1.

A rare case of solitary intraosseous neurofibroma of the mandible with radiological insights.

Neurofibromas (NF), rare benign peripheral nerve sheath tumors, are typically linked to neurofibromatosis type 1 (NF1). This case report presents a rare instance of a neurofibroma located in the mandible of a 12-year-old male patient, who presented with localized swelling and discomfort in the lower jaw. Clinical examination revealed a firm, nontender mass on palpation.