Leigh syndrome: an adult presentation of a paediatric disease.

A previously healthy 27-year-old man was admitted to the acute neurology ward with events involving his face, throat and upper limb, which video telemetry later confirmed were refractory focal seizures. He also had progressive pyramidal features, dysarthria and ataxia. MR scans of the brain identified progressive bilateral basal ganglia abnormalities, consistent with Leigh syndrome. However, extensive laboratory and genetic panels did not give a unifying diagnosis. A skeletal muscle biopsy showed no histopathological abnormalities on routine stains. Sequencing of the entire mitochondrial genome in skeletal muscle identified a well-characterised pathogenic variant (m.10191T>C in MT-ND3; NC_012920.1) at 85% heteroplasmy in skeletal muscle. We discuss the clinical and molecular diagnosis of an adult presenting with Leigh syndrome, which is more commonly a paediatric presentation of mitochondrial disease, and how early recognition of a mitochondrial cause is important to support patient care.

Guillain-Barré syndrome following SARS-CoV-2 vaccination in the UK: a prospective surveillance study.

Objective: To investigate features of Guillain-Barré syndrome (GBS) following SARS-CoV-2 vaccines and evaluate for a causal link between the two. Methods: We captured cases of GBS after SARS-CoV-2 vaccination through a national, open-access, online surveillance system. For each case, the certainty of GBS was graded using the Brighton criteria, and the relationship to the vaccine was examined using modified WHO Causality Assessment criteria. We compared age distribution of cases with that of prepandemic GBS cases and clinical features with the International GBS Outcome Study (IGOS). Results: Between 1 January and 30 June 2021, we received 67 reports of GBS following the ChAdOx1 vaccine (65 first doses) and three reports following the BNT162b2 vaccine (all first doses). The causal association with the vaccine was classified as probable for 56 (80%, all ChAdOx1), possible for 12 (17%, 10 ChAdOx1) and unlikely for two (3%, 1 ChAdOx1). A greater proportion of cases occurred in the 50-59 age group in comparison with prepandemic GBS. Most common clinical variants were sensorimotor GBS (n=55; 79%) and facial diplegia with paraesthesias (n=10; 14%). 10% (n=7/69) of patients reported an antecedent infection, compared with 77% (n=502/652) of the IGOS cohort (p<0.00001). Facial weakness (63% (n=44/70) vs 36% (n=220/620); p<0.00001) and sensory dysfunction (93% (n=63/68) vs 69% (n=408/588); p=0.00005) were more common but disease severity and outcomes were similar to the IGOS study. Interpretation: Most reports of GBS followed the first dose of ChAdOx1 vaccine. While our study cannot confirm or refute causation, this observation, together with the absence of alternative aetiologies, different than expected age distribution and the presence of unusual clinical features support a causal link. Clinicians and surveillance bodies should remain vigilant to the possibility of this very rare adverse event and its atypical variants.

Morbidity and mortality associated with gastrointestinal dysfunction in neuromuscular disease: a single-centre case series.

Gastrointestinal dysfunction in neuromuscular disease is associated with significant morbidity and mortality. It is often underreported despite its prevalence in this cohort. There are a number of issues reported, with gastrointestinal dysmotility and intestinal pseudo-obstruction carrying a poor outcome. We present a case-series of six patients attending a single-centre specialist muscle clinic with a confirmed diagnosis of a neuromuscular disorder (Duchenne muscular dystrophy, mitochondrial disorders, and desmin-related myopathy) and problematic gastrointestinal dysfunction. We advocate prompt recognition and early management, as part of the multi-disciplinary team, to prevent clinical deterioration.

Ensuring quality immediate discharge letters from mental health.

Purpose Immediate discharge letters (IDLs) from the mental health unit at Forth Valley Royal Hospital are vital in ensuring safe patient transfer to primary care. The purpose of this paper is to develop a standardised list of information that should be included in all IDLs, and to assess its use in practice. Design/methodology/approach Three audit cycles analysed IDLs over two-week periods for their inclusion of the standardised list. The data were assessed qualitatively. Findings Baseline measurement showed 48.7 per cent of discharges had a brief reason for admission, 15.4 per cent included a description of the patient's progress during inpatient admission, 35.9 per cent had medication alterations included and 23.1 per cent included follow-up arrangements. Following a series of interventions, analysis of subsequent IDLs demonstrated that 76.2 per cent of discharges had a brief reason for admission, 76.2 per cent included a description of the patient's progress during inpatient admission, 76.2 per cent had medication alterations included and 71.4 per cent included follow-up arrangements. Originality/value The standardised list developed will ensure quality communication and safe patient transfer to primary care; the application of this list was effective and cost neutral.