Chorea-acanthocytosis.

A middle-aged Asian man had gait difficulty progressing over several years. His speech had gradually become slurred with involuntary tongue biting. He was the product of a consanguineous marriage with no other relevant family history. MR scan of brain showed bilateral caudate atrophy. Nerve conduction studies showed a predominantly sensory peripheral neuropathy. Serum creatine kinase was slightly elevated but electromyography showed no evidence of myopathy. Three consecutive peripheral blood films were negative for acanthocytes. Whole-genome sequencing confirmed a mutation in VPS13A gene, consistent with autosomal recessive chorea-acanthocytosis.

A recent surge of nitrous oxide misuse around London which merits a public health warning.

BACKGROUND: Use of nitrous oxide (N2O) gas for recreational purposes by young people is increasingly recognized as a public health hazard in the UK. METHODS: We looked at the hospital records of patients admitted over the last 4 years to a single neurological centre in Essex to determine the demographics, presentation, and management of patients presenting with symptoms of N2O toxicity from its recreational use. RESULTS: Of the 17 patients (mean age = 22.9 ± 3 years) admitted between September 2018 and October 2022, 70% were admitted between January and October 2022. All patients reported limb paraesthesiae and 16/17 reported (95%) imbalance; 11/17 (65%) showed objective limb weakness. Serum B12 concentration was low in 9/17 (53%). Plasma methylmalonic acid (n = 7) and homocysteine (n = 8) levels were elevated in all patients tested. Spinal cord Magnetic Resonance Imaging (MRI) imaging was abnormal in 10/17 (59%) patients. Nerve conduction studies were abnormal in 10/13 (77%) patients, with evidence of a symmetric, length-dependent, large fibre neuropathy. CONCLUSIONS: There has been a recent surge of cases with neurological complications of recreational N2O abuse in the UK, with a relatively greater rate in 2022. Greater awareness of this condition amongst clinicians and health regulators is urgently required to prevent harm from N2O misuse in young people.

Conus medullaris syndrome as a presenting feature of MOG-associated disease.

We report a case of conus medullaris syndrome presenting with lower limb and bladder symptoms. MR imaging showed an abnormality in the lowest part of the spinal cord as a first presentation of myelin oligodendrocyte glycoprotein (MOG)-associated disease. While such cord swelling can mimic a tumour, these patients respond well to corticosteroids, with good outcomes. MOG-associated disease is an immune-mediated syndrome distinct from aquaporin 4 antibody positive neuromyelitis optica syndrome and is now considered an independent entity. Although there can be overlapping phenotypes, there are also differences, and MOG-associated disease generally has a much better prognosis compared with aquaporin 4 antibody-positive neuromyelitis optica syndrome.