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A 3-month-old infant presented with a painless, gradually enlarging swelling in their right orbital and temporal region. What is your diagnosis?

Importance In the literature, there is a lack of data reporting tumor control rates after radiotherapy in actively growing vestibular schwannomas (VS). Data for this rarely studied population are needed. Objective To estimate tumor control rates in radiologically growing VS treated with first-line radiotherapy. Design, Setting, and Participants This international, multicenter cohort study used prospectively collected data from patients with growing unilateral VS treated first-line with radiotherapy between January 2000 and December 2023 from 8 tertiary referral skull base units. The data were analyzed in June 2025. Exposures Radiotherapy as an initial treatment for VS. Main Outcomes and Measures The primary outcome was treatment failure, ie VS growth postradiotherapy, which was predefined as an increase in maximum intracranial tumor diameter (ICTD) of 3 mm or greater within the first 2 years after radiotherapy or 2 mm or greater thereafter. Secondary outcomes were treatment failure based on different definitions of VS growth: (1) an increase in ICTD of 2 mm or greater, (2) an increase in ICTD of 3 mm or greater, and (3) conversion to surgery. Results A total of 1883 patients (975 female individuals [51.8%]; median age at diagnosis, 63 years [IQR, 53-71 years]) were included in the study. Using the primary definition of treatment failure (an increase in ICTD of ≥3 mm within the first 2 years postradiotherapy or ≥2 mm thereafter), the Kaplan-Meier estimate yielded a 10-year tumor control rate of 76.1% (95% CI, 72.7%-79.2%). For secondary outcome definitions, 10-year tumor control rates were 60.1% (95% CI, 57.5%-64.3%) for an ICTD increase of 2 mm or greater, 78.3% (95% CI, 75.0%-81.2%) for an increase of 3 mm or greater, and 92.6% (95% CI, 90.4%-94.3%) for conversion to surgery. Neither pretreatment tumor size nor tumor location (intracanalicular vs extracanalicular) were significantly associated with treatment failure. Conclusions and Relevance The results of this cohort study provide tumor control outcomes for radiologically growing VS treated with radiotherapy using several clinically relevant definitions of growth. By focusing exclusively on this rarely isolated subgroup, the findings offer targeted data to potentially inform treatment expectations and future research.

Background: Radiologically Isolated Syndrome (RIS) is defined as incidentally found MRI abnormalities that are radiographically indistinguishable from multiple sclerosis (MS) and is considered a presymptomatic disease state of MS. Age <37 years, infratentorial or spinal cord lesions, gadolinium-enhancing lesions on index imaging, and positive cerebrospinal fluid oligoclonal bands have been identified as risk factors for conversion to MS. There are no existing guidelines regarding the role of disease-modifying therapy (DMT) in RIS patients. Objective: The objective of this study was to critically assess the current evidence regarding the impact of initiating DMT for patients with RIS on the time to first clinical attack of MS. Methods: The objective was addressed through the development of a structured critically appraised topic. This included a clinical scenario with a clinical question, literature search strategy, critical appraisal, results, evidence summary, commentary, and bottom-line conclusions. Participants included consultant and resident neurologists, medical librarian, and content experts in the field of neuroimmunology. Results: A multicenter, prospective, randomized, double-blind, placebo-controlled trial was chosen for critical appraisal. This trial examined the impact of treatment with dimethyl fumarate (DMF) versus placebo on the risk of conversion from RIS to MS over a 96-week study period. Patients in the DMF arm were found to have an 82% reduction in risk of clinical attack. DMF patients also had a smaller number of new/newly enlarging T2 hyperintense lesions compared with placebo. No subgroup analyses were performed to elucidate risk factors for conversion. Conclusions: While initiation of DMT in RIS does appear to reduce the time to first clinical attack of MS, the risk factors that should prompt initiation of DMT in this patient population require further study.

ABSTRACT Genital lymphedema presents significant challenges in surgical management, with limited effective interventions. This case report explores the use of contrast‐enhanced ultrasound (CEUS) with microbubble injection as an alternative adjunct technique for lymphatic mapping in lymphaticovenous anastomosis (LVA) surgery for genital lymphedema. A retrospective chart review approved by our institutional review board was performed for patients with genital lymphedema undergoing LVA surgery between 2020 and 2024. Intraoperative CEUS for lymphatic mapping was used with intradermal injection of microbubble suspension Lumason (Bracco Suisse, Monroe Township, NJ, USA). Data regarding demographics, comorbidities, clinical and operative characteristics, complications, and surgical outcomes were retrieved. Three patients with genital lymphedema who underwent LVA were identified. The first patient was a 34‐year‐old female with recurrent lymphangioma circumscriptum and vesicular drainage. She successfully underwent CEUS‐guided LVA followed by two debulking procedures. The second patient was a 16‐year‐old male with congenital scrotal and lower extremity lymphedema. He had two CEUS‐guided LVAs and subsequent debulking for anterior scrotal swelling, with long‐term reduction in edema. The third patient was a 31‐year‐old female with primary lymphedema of the right lower extremity and genital region. She underwent seven CEUS and indocyanine green lymphography (ICG) guided anastomoses targeting the mons and lower abdomen, resulting in substantial symptomatic and volumetric improvement. CEUS detected target lymphatic vessels in all cases, including cases where ICG imaging failed to identify candidate lymphatic vessels. CEUS with intradermal microbubble injection successfully identified target lymphatic vessels in the preoperative planning for LVA surgery in patients with genital lymphedema.

Abstract Background Alcohol biomarkers including ethyl glucuronide (EtG) and phosphatidylethanol (PEth) are ordered frequently in clinical and forensic settings including solid organ transplantation. PEth provides a long detection window but can be insensitive to light drinking. In contrast, EtG and ethyl sulfate (EtS) can be elevated after light alcohol consumption and might complement PEth testing. Methods Urine EtG/EtS and whole blood PEth results were evaluated from all clinically-ordered testing between 2014 and 2024. PEth and EtG/EtS confirmation were performed by liquid chromatography tandem mass spectrometry at two reference laboratories, using cutoffs: Lab A, PEth 20 ng/ml, EtG and EtS 500 and 250 ng/ml; Lab B, PEth 10 ng/ml, EtG and EtS 250 and 100 ng/ml. Only Lab B performed EtG screening by immunoassay, using a 500 ng/ml cutoff. Results Phosphatidylethanol was positive in 1269 (15.6%) of 8131 samples, compared to 769 (6.7%) confirmed EtG/EtS positives from 11 555 samples. EtG screening (n = 9668) was positive in 743 (7.7%) samples, of which 30 (4.0%) confirmed negative (false positives); the screen was indeterminate in 267 (2.8%) samples, 66 of which confirmed positive and 172 negative. Of 3132 paired PEth and EtG samples, 2887 (92.2%) were concordant, 224 (7.2%) were PEth-positive, and 21 (0.7%) were EtG-positive. PEth was significantly more sensitive in paired samples (P &lt; .001), even after accounting for potential confounders such as transfusion. Limiting testing to PEth would have correctly identified alcohol consumption in 331 of 373 (88.7%) instances versus EtG/EtS in 149 (39.9%), and reduced charges by &gt;$720 000 USD. Discussion Phosphatidylethanol outperformed EtG/EtS in detecting alcohol consumption in a predominantly abstinent transplant population. Compared to PEth, EtG/EtS had lower overall positivity and poorer sensitivity in paired samples; additionally, EtG screening demonstrated false positives and indeterminate results. EtG testing provided little added value beyond PEth in this population, and did not warrant the increased cost of performing both tests.