Tying it all together Watson-Fargie Taylor; Marshall, Victoria; Taylor, Rob ...
Journal of neurology, neurosurgery and psychiatry,
11/2023, Volume:
94, Issue:
Suppl 1
Journal Article
Peer reviewed
We present the case of a 30-year-old male who presented 7 years ago with intermittent hypoesthesia on his left face and upper limb. He was previously well with normal development, but note his ...brother died in infancy. MRI showed posterior putamen gliosis bilaterally. Over the subsequent 3 years he developed refractory throat, left upper limb and face ‘spasms‘, with video telemetry confirming focal seizures requiring multiple anti-seizure medicines. Left sided pyramidal signs, ataxia and dysarthria had also developed. Interval MRI confirmed progressive abnormalities with abnormal signal involving the posterior left lentiform nucleus, right corticospinal tract, scattered foci in both hemispheres, and disproportionate brain atrophy. A number of investigations were carried out on the basis this was a neurometabolic disorder, including muscle biopsy. Muscle biopsy histology was unremarkable, with no major respiratory chain abnormali- ties on quadruple immunohistochemistry. Subsequent sequencing of the entire mitochondrial genome revealed a MT-ND3 m.10191T>C pathogenic variant with 85% heteroplasmy in urine and 35% in blood. This conferred the diagnosis of adult-onset Leigh syndrome. Although Leigh syndrome is a common pres- entation of primary mitochondrial disease in paediatrics, it is a rare entity in adults. Accurate diagnosis allows for optimisation of patient care, aids prognosis and guides genetic counselling.
BackgroundCerebral amyloid angiopathy-related inflammation (CAAri) is a subtype of cerebral amyloid angiopathy (CAA) characterised by an autoimmune reaction to cerebrovascular beta-amyloid deposits. ...There is a broad spectrum of clinical presentations which can include headache, cognitive or behavioural change, focal deficit, and seizures.Case DescriptionA 58-year-old male presented with subacute headache associated with minor cognitive difficulties. Symptoms were steroid responsive. Imaging demonstrated left occipital lobe oedema with associated pachymeninigeal enhancement as well as scattered periventricular and subcortical white matter changes. CSF was inflammatory with significantly elevated white cell count and protein. A variety of investigations were completed and ultimately, he underwent a brain biopsy which was reported as in keeping with inflammatory amyloid angiopathy.Interestingly, initial MRI did not have any microhaemorrhages and radiologically CAAri was not considered a differential. The diagnosis only became clear with the pathology. He has since developed microhaem- orrhages on imaging and would now meet radiological criteria. Neurologically he is stable and remains on treatment with prednisolone and mycophenolate.DiscussionWe present a case of CAAri (confirmed on biopsy) comparing the clinical and radiological features to those in the literature. Observational studies suggest a favourable response to early immuno- therapy (as in this case); however, management is challenging due to lack of randomised control trial evidence.
ObjectiveTo reliably/rapidly distinguish multiple system atrophy (MSA) from Parkinson’s disease (PD), Progressive Supranuclear Palsy (PSP), and healthy controls (HC) using a minimally invasive skin ...biopsy, a novel Real-Time Quaking-induced Conversion (RT-QuIC) protocol for alpha-synuclein (aSyn) detection, and serum neurofilament light chain (NfL).BackgroundFeatures of PD/MSA/PSP frequently overlap; diagnosis, is often challenging. RT-QuIC has been adapted to detect CSF aSyn where it differentiates PD from HC (>90% sensitivity/specificity).One RT-QuIC study reported a 95.4% sensitivity (specificity 93%) in MSA after 12-days (others have been negative). A single in vivo MSA/PSP study detected seeding activity in 3/5 MSA/1/2 PSP.MethodsUsing post-mortem MSA and PD brains, we developed a novel, rapid RT-QuIC protocol to detect aSyn seeds from in vivo cervical skin biopsy, and combined the results with serum NfL.ResultsaSYN was detected in 9/10 MSA, 11/13 PD, 1/7 PSP, and 3/20 HC in a single skin biopsy (sensitivity 87%/specificity 85% synucleinopathies/non-synucleinopathies). Combining RT-QuIC/serum NfL (threshold 30pg/ml), achieved 100% sensitivity/100% specificity in distinguishing MSA from PD, and 100%/93% MSA vs PD/PSP/HC.We report a rapid (24 hours), minimally invasive, 2 step method with high sensitivity (100%)/specificity (93%) for the in vivo diagnosis of MSA compared to PD/PSP/HC (PD from HC/PSP) using a novel RT-QuIC protocol. If replicated it has a potential to revolutionise clinical trial stratification.
IntroductionPleural fluid characteristics may be complimentary in diagnosing pleural disease but tissue histopathology remains the gold-standard for diagnosis, particularly in malignancy. We sought ...to understand how practice has changed over time with the incorporation of novel techniques in a high-volume centre.MethodsA retrospective study of all local anaesthetic thoracoscopies (LAT) and physician performed image guided pleural biopsies (IGPBx) with ultrasound at a single centre from 2014–2019.Results510 procedures were performed over this period; 67% were LATs (343/510) the remainder were IGPBx (167/510).The proportion of IGPBx rose from 31% of procedures per year in 2014 (26) to 45% of procedures per year in 2018 (44). The number of talc poudrages performed decreased from 46% in 2015 (29) to 9% in 2018 (5).IGPBx was used preferentially in cases of benign pleural disease with 61.2% (98) resulting in a benign diagnosis compared to 46.8% (153) in the LAT group (c2 1df = 8.9, p=0.003).A higher proportion of complications were seen in LATs overall (c2 1df = 8.0, p=0.005) with complications seen in 15% of case (53). The majority were related to pain control (17), followed by vasovagal episodes (8). IGPBx were associated with complications in 6.6% of cases (11) and were largely related to bleeding (7).The sensitivity of LAT biopsies for malignant pleural disease was 87%, compared to 78% for IGPBx. The negative predictive value of both were comparable at 90% for LAT and 87% for IGPBx (figure 1). The majority of false negative biopsies in both groups were seen in Mesothelioma; 11/18 (61.1%) in the LAT group and 9/14 (64.2%) in the IGPBx group.Abstract P203 Table 1Sensitivity/Specificity/PPV/NPV analysis LAT and IGPBx LAT +ve Malignant Pleural Disease -ve Malignant Pleural Disease IGPBX +ve Malignant Pleural Disease -ve Malignant Pleural Disease Biopsy +ve 123 1 PPV 0.99 Biopsy +ve 49 0 PPV 1.00 Biopsy -ve 18 160 NPV 0.90 Biopsy -ve 14 95 NPV 0.87 Sens 0.87 Spec 0.99 Sens 0.78 Spec 1.00 DiscussionPhysician performed IGPBx offers an alternative choice of procedure to LAT with comparable negative predictive values although direct comparison is limited due to the heterogenous patient groups they were performed in. IGPBx were associated with fewer complications and therefore may be suited to a frailer patient cohort. LAT biopsies have a higher diagnostic yield and therefore thoracoscopic biopsies remain the gold-standard for diagnosing malignant pleural disease.
