PRACTICAL NEUROLOGY最新文献

According to the Global Burden of Disease Project (2021), back pain affects over half a billion people worldwide and is responsible for the most years lived with disability of any condition. Only a small fraction of these will ever see a neurologist, but those that do pose a range of difficulties, from attempting an accurate diagnosis to estimating prognosis and providing advice as to whether any interventions, particularly surgery, are likely to be better than the effect of time alone. There are many guidelines, mainly aimed at primary care practitioners. This article tries to provide succinct evidence-based messages for neurologists (and others in secondary care) to use with patients at different stages of back pain duration-from acute to chronic-to help in navigating some of these difficulties.

A 29-year-old woman developed bilateral facial nerve palsy for which no cause could be identified despite neuroimaging, lumbar puncture, viral serology and blood testing. Neuroinflammatory and dermatology input was sought. The patient later presented with a new manifestation of upper lip swelling, leading to a clinical diagnosis of Melkersson-Rosenthal syndrome. The diagnosis of this neuromucocutaneous disorder is challenging, with the classical triad of signs-facial nerve palsy, orofacial oedema, lingua plicata-often not presenting together. Suspecting the condition in oligosymptomatic presentations could reduce the delay in diagnosis, thereby facilitating earlier consideration for corticosteroid or immunosuppressive treatment and involvement of dermatology as appropriate.

Ewing sarcoma is a highly aggressive malignancy predominantly affecting bones and soft tissues, which typically occurs in young people. Its occurrence in peripheral nerves is exceptionally rare, posing significant diagnostic and therapeutic challenges. We describe a 64-year-old woman with progressive weakness of the left foot, who had an intraneural extraosseous Ewing sarcoma of the common fibular nerve. We describe the complexities of diagnosing this rare malignancy and emphasise the role of a multidisciplinary approach to management.

Long QT syndrome is an uncommon cardiac condition characterised by QT prolongation with a risk of syncope and sudden death from torsades de pointes ventricular arrhythmias. Seizures and seizure-like episodes can occur, and there may be a delay in recognising them as the underlying cause. A 37-year-old man who presented with a seemingly uncomplicated single seizure was later found to have long QT syndrome. His initial ECG showed a prolonged QTc (QT interval corrected for heart rate) of 507 ms (normal 350-450), while subsequent 'interictal' ECGs were reportedly normal. We highlight the importance of considering long QT syndrome in first seizure (first fit) clinics by documenting the QTc interval and taking an appropriate family history.

ATP1A2 (OMIM 182340) encodes the α2 subunit of Na+/K+-ATPase. Variation in this gene has been associated with a spectrum of clinical phenotypes, including familial hemiplegic migraine type 2 (FHM2), epilepsy and intellectual disability. A 22-year-old woman with intellectual disability, hemiplegic migraine and epilepsy presented with persistent decreased consciousness, unexplained by initial investigations. Two weeks later, repeat imaging showed new, marked cerebral oedema with no identified cause; this eventually resolved. A year later, she had a further milder episode. An epilepsy gene panel identified a likely pathogenic missense variant in the ATP1A2 gene (NM_000702.3: c.1027A>C, p.(Thr343Pro)). After starting memantine as a targeted treatment, her migraine and seizure frequency reduced. This case highlights the importance of early genetic testing in certain people with epilepsy to determine the cause and enable targeted therapeutic interventions.

Although myasthenia gravis (MG) primarily manifests as weakness of oculo-bulbar, axial and appendicular muscles, the disease and its treatments are associated with many comorbid conditions that impact patients' quality of life. Patients frequently experience secondary autoimmunity, cardiovascular and endocrine dysfunction, fatigue, sleep and mental health disorders. MG and its treatments can also be an important source of social and economic burden on patients. This review aims to elaborate on the multi-morbid nature of MG and to provide an approach for recognising and managing relevant comorbidities with an emphasis on preventative health.

Optic neuritis (ON) has over 60 distinct causes, only one of which is multiple sclerosis (MS). This poses a challenge for its prompt and accurate diagnosis. Patients frequently present with pain that worsens on eye movements, followed by reduced colour vision and acuity, progressing over a couple of weeks. The recovery phase typically follows a similar pattern, with pain improving before visual function. The interpretation of relevant investigations depends on their timing. This paper presents a practical approach to investigating, diagnosing and classifying ON in individuals with MS and other common neuroinflammatory conditions. We have taken into account the most recent consensus panel diagnostic criteria for ON (2022), neuromyelitis optica spectrum disease (NMOSD), myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD, 2023) and MS (2024 revisions of the McDonald criteria). We use case histories to illustrate how best to use MRI and optical coherence tomography (OCT) in ON and discuss common clinical pitfalls.

A 31-year-old woman presented with generalised pain and weakness due to a severe axonal sensorimotor neuropathy, rapidly worsening over 2 weeks. For 6 months she had experienced transient joint symptoms, rash and hair loss. A vasculitic process was considered. Blood tests taken following intravenous immunoglobulin (IVIG) (given for suspected Guillain-Barré syndrome) noted strongly positive lupus and antiphospholipid antibody titres. She was diagnosed with severe multisystem lupus vasculitis involving the central and peripheral nervous system and started on cyclophosphamide and prednisolone, with notable improvement. We outline challenges faced in this patient's care, including making the diagnosis, interpreting autoantibody serology following IVIG treatment and identifying suitable immunosuppression regimens in a limited evidence base. It is important to be aware that peripheral neuropathy is an under-recognised presenting manifestation of neurological lupus.