Zhenchu Tang

Wilson’s Disease (WD), a genetic metabolic disorder, is characterized by the accumulation of copper in the liver and brain, resulting in a range of clinical symptoms. The clinical manifestations of WD vary widely. The present study introduces the distinctive features of intestinal microbiota in Chinese patients with WD, presenting diverse clinical symptoms. It shows a reduction in the diversity of gut microbiota among patients with hepatic symptoms associated with WD, particularly in the genus responsible for SCFAs production. It demonstrates an increase in the Haemophilus microorganism. This study may offer novel insights for further investigation into the mechanisms underlying the occurrence, development, and treatment of WD subtypes.

Corrigendum: Case report: early recognition, treatment, and occupational safety protection are crucial for methanol toxicity

Background: Despite significant progress in treating methanol poisoning, the lack of training, hazard communication, and occupational safety protection education contributes to the risk of occupational exposure and methanol toxicity. In addition, early diagnosis and timely medical care are essential to reduce the risk of morbidity and mortality, yet it remains a challenging procedure. Case Report: A 35-year-old man working in a fireworks factory came to our emergency department with acute mental change and progressive disturbance of consciousness. The patient's vital signs were stable, and he presented with enlargement of both pupils with a weak reaction to light. Head computed tomography showed low signal intensities in the bilateral basal ganglia. He was admitted to the neurologic intensive care unit, where additional laboratory workup showed high anion-gap metabolic acidosis. Methanol poisoning was thus considered. Before being treated with sodium bicarbonate infusion, hemodialysis, folate, and high-dose vitamin B, the blood and urine samples were collected for toxicity tests, which turned out to be methanol poisoning. After 8 hours of hemodialysis, the patient's consciousness recovered, but he complained of a complete loss of vision in both eyes. Brain and optic nerve magnetic resonance images showed bilateral symmetric putamen lesions and optic neuropathy. Ophthalmic tests indicated visual pathway impairment and optic disc swelling but no fluorescein leakage. The right eye's vision was partially restored on the third day, but he could only count fingers at 20 cm. Unfortunately, his eyesight ceased to improve during the 6 months of follow-up. Conclusions: Early diagnosis and prompt treatment will improve the prognosis of methanol poisoning in terms of vision and patient survival. Awareness and supervision of commercial alcohol use are indispensable for similar industrial processes.

Background: HINT1 mutations cause an autosomal recessive axonal neuropathy with neuromyotonia. This is a first case report of coexistence of myasthenia gravis (MG) and HINT1-related motor axonal neuropathy without neuromyotonia. Case presentation: A 32-year-old woman presented with recurrent ptosis for 8 years, diplopia for 2 years and limb weakness for 1 year and a half. Neostigmine test, elevated AChR antibody level and positive repetitive nerve stimulation supported the diagnosis of MG. Electroneurography (ENG) and electromyography (EMG) examinations revealed a motor axonal neuropathy without neuromyotonic or myokymic discharges. Next-generation sequencing and Sanger sequencing were performed to identify the gene responsible for suspected hereditary neuropathy. Genetic testing for a HINT1 mutation was performed and revealed a homozygous mutation at c.278G>T (p. G93V). The patient was treated with pyridostigmine, oral prednisolone and azathioprine. Her ptosis and diplopia have significantly improved at 6-month follow-up. Conclusions: Concurrence of MG and hereditary motor axonal neuropathy without neuromyotonia is quite rare. Detection of ptosis with or without ophthalmoplegia, distribution of limb weakness, and reflex can help in recognizing the combination of MG and peripheral neuropathy. Early diagnosis is important for initial treatment and prognosis. The novel homozygous variant c.278G>T(p.G93V) contributes to the pathogenic variants spectrum of the HINT1 gene.