PRACTICAL NEUROLOGY最新文献

A 32-year-old woman had experienced recurrent seizures since infancy, with progressive ataxia, dystonia, and electrolyte disturbances, suggesting a possible genetic tubulopathy with neurological manifestations. The complexity of her presentation highlights the importance of a multidisciplinary approach and the role of genetic investigations in uncovering rare conditions that bridge neurology and nephrology.

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.

Dementia with Lewy bodies (DLB) is a leading cause of late-life dementia which remains underdiagnosed and misdiagnosed, and is associated with significant diagnostic delay compared with non-DLB dementias. There is a pressing need for timely and accurate diagnosis of neurodegenerative disease with the emergence of pathologically targeted disease-modifying therapies. This review aims to provide neurologists with practical advice on the recognition of classical, prodromal and variant forms of DLB. We discuss the appropriate use of diagnostic modalities, along with advice on focused and practical management in the clinical setting.

The major barriers to detecting, diagnosing and treating depression in the epilepsy clinic are a lack of confidence and a lack of time. Patients with epilepsy have a significantly increased risk of anxiety and depression, and an increased risk of suicide, so conversations about mood should be considered as routine as conversations about SUDEP (sudden unexpected death in epilepsy). Neurologists should feel confident in prescribing serotonin reuptake inhibitors and should know how to refer to local next-stage mental health services if required. Access to psychological well-being services is better than most people are aware of, and self-referral is possible. We would encourage neurologists to strongly consider mental health when prescribing antiseizure medications, especially levetiracetam, and to disseminate such considerations to acute medical, anaesthetic and neurosurgical colleagues. We provide some simple, practical advice to equip neurologists and epilepsy nurses to talk to patients about their mental health and to take initial steps towards treatment.

Ischaemic strokes in young adults carry considerable mortality and morbidity; however, their cause is often unknown. A 25-year-old man experienced sudden-onset right homonymous hemianopia after 1 week of gradually worsening left-sided neck pain; imaging confirmed left vertebral artery dissection with associated posterior cerebral circulation infarction. Ten days later, he experienced right-sided neck pain consistent with a right vertebral artery dissection, but with no recent trauma. Genetic testing identified a novel heterozygous variant in SMAD3 (Mothers against decapentaplegic homolog 3), which is associated with Loeys-Dietz syndrome 3. This case highlights the importance of comprehensive diagnostic investigations for young adults with ischaemic stroke, including consideration of genetic testing. Accurately identifying genetic causes of stroke allows improved patient management including familial screening, clinical surveillance and pre-implantation genetic screening.