PRACTICAL NEUROLOGY最新文献

A middle-aged man had classical clinical and radiographical features of spontaneous intracranial hypotension, refractory to conservative management. His medical history included antiphospholipid syndrome, autoimmune thrombocytopenia and recurrent thrombotic events. To reduce his risk from epidural blood patching, we stopped his anticoagulation, but he developed thrombosis. Despite therapeutic challenges, we performed a fluoroscopically guided epidural blood patch successfully at multiple levels, with significant symptom and radiological improvement maintained at 9 months. We review the place of epidural blood patching in people with spontaneous intracranial hypotension who either take anticoagulants or have coexisting blood disorders.

Stiff-person syndrome (SPS) is an autoimmune disease associated mainly with antibodies to glutamic acid decarboxylase (GAD) or to glycine, characterised by intermittent painful spasms, stiffness and rigidity of the proximal and truncal muscles. Neuro-ophthalmological and gastrointestinal symptoms also occur. The symptoms are caused by neuronal excitability due to impaired inhibitory (gamma amino butyric acid [GABA] and glycine) neurotransmission. SPS is part of a larger spectrum of GAD antibody-spectrum disorders, which overlaps with autoimmune epilepsy, cerebellar ataxia, myoclonus, progressive encephalomyelitis, rigidity and myoclonus (PERM) and limbic encephalitis. PERM is often caused by antibodies against the glycine receptor. Some SPS cases are paraneoplastic. Diagnostic delay is often associated with irreversible disability, and therefore, clinicians need a high degree of clinical suspicion to make an earlier diagnosis. This review updates the various clinical presentations that should raise suspicion of SPS and its related conditions and includes a diagnostic algorithm and various treatment strategies including immunotherapy and GABA-ergic drugs.

Embolic stroke due to pulmonary vein thrombosis is rare but may be associated with lung and left atrial tumours, pulmonary surgery, atrial fibrillation and radiofrequency ablation. It is very rarely idiopathic. A 23-year-old man developed acute onset of a left partial third nerve palsy and left ataxic hemiparesis. His MR scan of the brain showed an acute infarct in the left midbrain and left thalamus. CT angiogram found no steno-occlusive disease and transthoracic echocardiogram was normal. However, a transoesophageal echocardiogram showed a hyperechoic mass projecting from the right inferior pulmonary vein, confirmed on cardiac MR scan to be a right inferior pulmonary vein thrombus. A cardiac loop recorder did not capture an atrial arrhythmia. CT scan of the chest found no significant abnormality in the pulmonary parenchyma. Investigations for hypercoagulable state were negative. He took dabigatran for 6 months with complete resolution of thrombus.

A 21-year-old woman developed explosive new-onset refractory status epilepticus when 18 weeks pregnant. She had been previously well with no history of seizures and a normal developmental history. She had initially presented with focal impaired awareness seizures but subsequently developed status epilepticus requiring intensive care unit admission and was successfully treated with multiple anti-seizure medications. Once stabilised she was stepped down to the inpatient neurology ward and then transferred to the tertiary centre for a planned late termination of pregnancy, which was the patient's choice. Following transfer, she again developed refractory status epilepticus, requiring intensive care readmission. Subsequent investigations identified a compound heterozygous POLG genetic mutation. We discuss the challenges in the acute clinical situation and important considerations in the diagnosis and management of POLG-related epilepsy.

Small fibre neuropathies (SFNs) are common and can significantly affect patients' lives due to debilitating pain and autonomic symptoms. We explain the tests that neurologists can use to diagnose SFNs and how neurophysiologists perform and interpret them. This review focuses on neurophysiological tests that can be used to investigate SFNs, their sensitivity, specificity and limitations. Some of these tests are available only in specialist centres. However, newer technologies are emerging from scientific research that may make it easier to diagnose these conditions in the future.

Vestibular schwannoma is a common benign tumour that may cause local complications. However, vestibular schwannoma has a known association with communicating hydrocephalus presenting with symptoms of normal pressure hydrocephalus and requiring treatment by ventricular shunting or tumour resection. We report a 79-year-old woman who presented with subacute gait apraxia, cognitive impairment and urinary incontinence. CT and MR imaging identified a 20 mm vestibular schwannoma and communicating hydrocephalus; her cerebrospinal fluid (CSF) protein was elevated. Her symptoms improved following ventriculoperitoneal shunt insertion. The mechanism by which non-obstructing vestibular schwannoma causes hydrocephalus is unclear, but hyperproteinorrachia is probably important, likely by impeding CSF resorption.

Human immunoglobulin, delivered either intravenously (IVIg) or subcutaneously, is used to treat a range of immune-mediated neurological disorders. It has a role in acute or subacute inflammatory disease control and as a maintenance therapy in chronic disease management. This review considers mechanisms of IVIg action and the evidence for IVIg in neurological conditions. We use Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) as frameworks to demonstrate an approach to IVIg use in acute and chronic dysimmune neurological conditions across two different healthcare systems: the UK and Australia. We highlight the benefits and limitations of IVIg and focus on practical considerations such as informed consent, managing risks and adverse effects, optimal dosing and monitoring response. We use these basic clinical practice principles to discuss the judicious use of an expensive and scarce blood product with international relevance.