PRACTICAL NEUROLOGY最新文献

Neuromuscular diseases can present with acute respiratory failure with no other symptoms. A 30-year-old woman presented with progressive dyspnoea, culminating in respiratory failure requiring critical care admission for non-invasive ventilation. On examination, she had proximal and distal muscle weakness with bilateral scapular winging. An MR scan of the muscle showed selective fatty replacement in the semitendinosus, tibialis anterior and peroneus longus muscles. Muscle biopsy identified rimmed vacuoles, core-like structures and desmin-positive aggregates. Genetic testing identified a novel heterozygous missense mutation (c.95350G>A, p.Ala31784Thr) in the fibronectin type-III 119 domain of the TTN gene, leading to the diagnosis of hereditary myopathy with early respiratory failure (HMERF). Her muscle weakness has since progressed over 3 years, and she still depends on non-invasive ventilation. Clinicians should consider HMERF in adults presenting with unexplained respiratory failure.

The clock drawing test is one of the most common screening instruments for dementia. It is easy and fast to administer and provides a straightforward way to assess a range of cognitive domains. In this article, we divide its interpretation into three main errors, allowing readers to become familiar with its key findings and their meanings.

Toscana virus (named after Tuscany, Italy) is an arthropod borne virus transmitted by sandflies. It is common in the Mediterranean region, several southern European countries and some North African countries, but is rare in the UK. Most Toscana virus infections are asymptomatic, but severe infections can have neurological manifestations. Toscana virus encephalitis is an uncommon self-limiting encephalitis with a vasculopathy. We report an elderly man who developed Toscana virus encephalitis and vasculopathy causing multiple ischaemic strokes with evidence of reversible intravascular stenosis, after a brief holiday on a Mediterranean cruise. The diagnosis is confirmed by detecting the presence of the virus in the cerebrospinal fluid (CSF) using real-time reverse transcriptase - PCR (RT-PCR) tests, and by a rise in antibody titres in serum. The treatment of Toscana virus infections is mainly symptomatic. Toscana virus infection should be considered in returning travellers who develop a febrile illness with confusion.

Adenopathy and an extensive skin patch overlying a plasmacytoma (AESOP) syndrome is a rare condition characterised by an erythemato-violaceous patch on the skin, accompanied by an underlying solitary plasmacytoma. It may give an early clue for the diagnosis of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, skin changes (POEMS) syndrome, an uncommon multisystem disorder driven by plasma cell dyscrasia. We describe a 62-year-old man with sensorimotor peripheral neuropathy, unintentional weight loss and a persistent skin rash. Diagnostic findings, including elevated vascular endothelial growth factor, an immunoglobulin A kappa paraprotein and a skin/sternal biopsy, led to the diagnosis of AESOP and POEMS syndrome. This case underscores the importance of early recognition of AESOP syndrome as a potential lifesaving clue for the early diagnosis of POEMS syndrome.

Chorea after cardiac surgery (formerly post-pump chorea) is a common complication in children (estimated prevalence of 0.6%-3%) but is rare in adults; when it does occur, it is often permanent and less responsive to treatment. A 47-year-old woman developed chorea in all limbs following cardiac surgery for a pseudoaneurysm of the anastomosis along with thrombectomy of the prosthetic aortic valve (after Bentall's procedure in the past). MR scan of brain showed bilateral basal ganglia abnormalities, which partially resolved over 3 months. Despite initial treatments, her condition worsened until switching to haloperidol.

Haemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening hyperinflammatory syndrome of uncontrolled systemic inflammation. In 2018, the US Food and Drug Administration issued a safety warning of the risk of HLH after starting lamotrigine. Early recognition and prompt and effective immunosuppression, alongside trigger identification, are essential for a good outcome in HLH. We report two cases of HLH temporally associated with lamotrigine initiation. Both patients had presented with refractory fever, falling cell counts and hyperferritinaemia-the hallmark 3Fs of HLH-and were admitted to critical care with multiorgan failure within 10 days of starting lamotrigine. They received treatment for HLH with intravenous corticosteroids, immunoglobulin and anakinra; lamotrigine was withdrawn. Both patients recovered fully following protracted hospital admissions and remain stable on alternative antiseizure medication. HLH is a very rare but life-threatening complication of lamotrigine therapy. Appropriate consent and clinical vigilance are relevant to clinicians using lamotrigine in clinical practice.