Neurovascular complications in adults with Neurofibromatosis type 1: A national referral center experience.

Neurofibromatosis type 1 (NF1) is associated with a range of vascular abnormalities. To assess the frequency, clinical and imaging spectrum of vascular complications in an adult cohort of NF1 patients, we reviewed 2068 adult NF1 patient records seen in our service between 2009 and 2019, to determine presence of vascular abnormalities, age at detection, associated symptoms and management. A literature review of the range of vascular abnormalities associated with NF1 was also undertaken. 1234 patients had magnetic resonance imaging cranial imaging. The frequency of vascular abnormalities associated with NF1 patients who had cranial imaging in this cohort was 3.5% (n = 43), the majority (n = 26, 60%) were symptomatic. Stroke and cerebral arterial stenosis were the commonest vascular complication. Eight patients (0.65%) had more than one type of vascular abnormality. One death due to a vascular complication was identified and significant morbidity resulted from other complications. We conclude that clinicians caring for patients with NF1 need to be cognizant that rapid onset of new neurological symptoms or signs may be the result of a vascular complication of NF1 and require urgent investigation and management, ideally within specialist teams who have experience of managing vascular complications of NF1.

Assessing CSF ctDNA to Improve Diagnostic Accuracy and Therapeutic Monitoring in Breast Cancer Leptomeningeal Metastasis.

PURPOSE: Cerebrospinal fluid (CSF) cytology is the gold standard diagnostic test for breast cancer leptomeningeal metastasis (BCLM), but has impaired sensitivity, often necessitating repeated lumbar puncture to confirm or refute diagnosis. Further, there is no quantitative response tool to assess response or progression during BCLM treatment. EXPERIMENTAL DESIGN: Facing the challenge of working with small-volume samples and the lack of common recurrent mutations in breast cancers, cell-free DNA was extracted from the CSF and plasma of patients undergoing investigation for BCLM (n = 30). ctDNA fraction was assessed by ultra-low-pass whole genome sequencing (ulpWGS), which does not require prior tumor sequencing. RESULTS: In this proof-of-concept study, ctDNA was detected (fraction ≥0.10) in the CSF of all 24 patients with BCLM+ (median ctDNA fraction, 0.57), regardless of negative cytology or borderline MRI imaging, whereas CSF ctDNA was not detected in the six patients with BCLM- (median ctDNA fraction 0.03, P < 0.0001). Plasma ctDNA was only detected in patients with extracranial disease progression or who had previously received whole brain radiotherapy. ctDNA fraction was highly concordant with mutant allele fraction measured by tumor mutation-specific ddPCR assays (r = 0.852; P < 0.0001). During intrathecal treatment, serial monitoring (n = 12 patients) showed that suppression of CSF ctDNA fraction was associated with longer BCLM survival (P = 0.034), and rising ctDNA fraction was detectable up to 12 weeks before clinical progression. CONCLUSIONS: Measuring ctDNA fraction by ulpWGS is a quantitative marker demonstrating potential for timely and accurate BCLM diagnosis and therapy response monitoring, with the ultimate aim to improve management of this poor-prognosis patient group.

Atypical 18F-FDG PET-CT uptake in the head and neck; a case-based pictorial review.

Positron emission tomography - computed tomography (PET-CT) with fluorine-18-fluorodeoxy-d-glucose (18F-FDG) has an increasing role in head and neck imaging. Interpretation of 18F-FDG-tracer uptake in the head and neck requires an understanding of normal physiological patterns of tracer uptake, as well as knowledge of potential pitfalls and atypical patterns. This article presents a select series of unusual patterns of 18F-FDG uptake on PET-CT imaging of the head and neck.

A rare suspected case of chronic nodular granulomatous herpes simplex encephalitis in an adult.

Herpes simplex encephalitis is the most common sporadic viral encephalitis in the western world, HSV-1 (herpes simplex virus) being the mostly commonly implicated serotype. The disease is usually monophasic, although patients may relapse weeks, months or years after initial infection. This chronic granulomatous inflammatory process is almost exclusively described in children and rarely forms discrete enhancing parenchymal nodules. We present the clinical and radiological features of an unusual case of chronic nodular granulomatous herpes encephalitis with enhancing "mass-like" nodules in an adult. To the author's knowledge, this is the first reported case of macroscopic "mass-like" nodular granuloma formation in an adult.

Pulmonary lobar torsion: a rare complication following pulmonary resection, but one not to miss.

Lobar torsion is an uncommon phenomenon but a crucial diagnosis to consider in any patient undergoing lobectomy, as the clinical findings and radiographic appearances are non-specific. This case report documents the clinical and radiological evolution of middle lobe torsion in a patient who underwent right upper lobectomy for Stage 1 adenocarcinoma of the lung. The diagnosis of lobar torsion is most often made on CT scanning of the chest, which is frequently performed in order to distinguish this from multiple other more frequently encountered post-operative complications. Contrast-enhanced CT scan is the recommended imaging modality in suspected cases. If features of lobar torsion are identified, the findings must be communicated immediately to cardiothoracic surgeons owing to the potentially life-threatening consequences of delay. Management of lobar torsion is predominantly surgical, with several techniques currently in use; however, video-assisted thoracoscopic surgery is emerging as an increasingly favoured approach.

Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings.

UNLABELLED: The branchial arches are the embryological precursors of the face, neck and pharynx. Anomalies of the branchial arches are the second most common congenital lesions of the head and neck in children, with second branchial arch anomalies by far the most common. Clinically, these congenital anomalies may present as cysts, sinus tracts, fistulae or cartilaginous remnants with typical clinical and radiological findings. We review the normal embryological development of the branchial arches and the anatomical structures of the head and neck that derive from each arch. The typical clinical and radiological appearances of both common and uncommon branchial arch abnormalities are discussed with an emphasis on branchial cleft anomalies. KEY POINTS: • Anomalies of the branchial arches usually present as cysts, sinuses or fistulae. • Second branchial arch anomalies account for approximately 95 % of cases. • There are no pathognomonic imaging features so diagnosis depends on a high index of suspicion and knowledge of typical locations. • Persistent cysts, fistulae or recurrent localised infection may be due to branchial arch anomalies. • Surgical excision of the cyst or tract is the most common curative option.

Salmonella enteritidis induced myocarditis in a 16-year-old girl.

Myocarditis typically presents with non-specific clinical symptoms, and can easily be missed in the absence of a high index of clinical suspicion. Myocarditis caused by bacterial pathogens is rare in immunocompetent individuals, more commonly seen following viral infection. Although more classically associated with typhoid fever and gastroenteritis, Salmonella species are a rare cause of myocarditis. We report a case of Salmonella enteritidis-induced myocarditis after gastrointestinal infection in a 16 year-old girl, and discuss the diagnostic tools currently utilised to ascertain the diagnosis.

Allopurinol-induced hepatomegaly.

Allopurinol has long been recognised as a cause of hepatotoxicity; however, severe side effects remain rare. We report a case of allopurinol-induced hepatomegaly causing abdominal symptoms in an elderly woman after long-term allopurinol use.