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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.

ABSTRACTBoth neurosyphilis and diplopia are widely known medical terms. Nevertheless, low clinical awareness by the physician and the often-overlooked presentation of diplopia, make the combination of neurosyphilis and diplopia rarely observed. In this article, we report 2 neurosyphilitic patients presenting with diplopia and review 8 additional case reports of neurosyphilis with diplopia, with a total of 10 cases to be analyzed.

Objective. To observe the orbital volume changes and the analysis of surgical effect of Graves orbitopathy (GO) after endoscopic medial wall decompression combined with muscle cone fat. Methods. Twenty-two patients (30 eyes) with Graves orbital disease who visited the Department of Ophthalmology of Ningbo Medical Center from December 2019 to September 2021 were retrospectively collected. All patients were diagnosed as nonorganic active stage before operation, and all of them received endoscopic transethmoidal decompression of the medial orbital wall combined with intramuscular orbital fat decompression due to decreased vision, visual field defect or color vision disorder, and concomitant proptosis. Regular follow-up after operation. The curative effect is judged according to the degree of improvement of visual acuity, color vision, degree of correction of exophthalmos, diplopia, and other complications at 9 months after operation. Orbital CT combined with computer aided measurement software (Mimics 21) was used to measure the changes of orbital volume before and after exophthalmos surgery. The relationship between the value and eyeball regression is analyzed. Results. Preoperative exophthalmos ranged from 17.4 mm to 27.6 mm, with an average of (22.08±2.86) mm. The postoperative exophthalmos was 14-25 mm, with an average of (19.52±3.10) mm. Among them, 7 eyes (23.3%) had exophthalmos regression less than 1 mm, 6 eyes (20%) had a regression of 1-2 mm, 7 eyes (23.3%) had a regression of 2-3 mm, 5 eyes (16.7%) had a regression of 3-4 mm, and 5 eyes (16.7%) had a regression of 4-5.3 mm. The exophthalmos after operation was significantly lower than that before operation, and the difference was statistically significant (t=9.909, P<0.05). The preoperative orbital volume was 18.6 cm3-25.3 cm3 with an average of (22.39±1.91) cm3. The postoperative orbital volume was 19.8 cm3-26.6 cm3, with an average of (23.89±1.90) cm3.The orbital volume change range is 0.1 cm3-3.8 cm3, and the average orbital volume change is (1.51±1.00) cm3. Compared with preoperative orbital volume, the difference was statistically significant (t=−8.074, P<0.05). Conclusion. Endoscopic decompression of the medial orbital wall through the ethmoid approach combined with decompression of the orbital fat within the muscle cone can effectively correct the exophthalmos while decompressing the orbital apex, and it is minimally invasive and has no facial scars. It has the advantages of extremely low incidence of postoperative diplopia and eye shift. There is a significant correlation between orbital volume changes and the regression of exophthalmos, which can provide reference for clinical guidance of surgical methods and prediction of surgical results.

Background Polyradiculoneuropathy following infection with varicella zoster virus (VZV) is rare and most of the time, happens in the context of reactivation of latent VZV. We report a case of acute polyradiculoneuropathy following primary infection with VZV marked by atypical clinical features raising the hypothesis of a para-infectious disease. Case presentation We describe a 43-years-old male who developed ataxia, dysphagia, dysphonia, and oculomotor disorders (vertical binocular diplopia and bilateral ptosis) followed by quadriplegia with areflexia which occurred 4 days later. The patient had a history of varicella that occurred 10 days before the onset of these symptoms. Nerve conduction study revealed features consistent with an acute motor-sensory axonal neuropathy (AMSAN). Anti-ganglioside antibodies were negative. Based on clinical presentation and ancillary examination, we retain the Miller Fisher/Guillain-Barré overlap syndrome diagnosis. The patient was treated with high doses of methylprednisolone but the evolution of the disease was nevertheless marked by a complete recovery six weeks after onset of symptoms. Conclusion GBS following varicella is a rare but severe disease occurring most often in adults and marked by greater involvement of the cranial nerves. Its clinical features suggest that it is a para-infectious disease. Antiviral therapy has no effect on the course of the disease but its administration within the first 24 h after the onset of chickenpox in adults can prevent its occurrence.

ABSTRACTEpilepsy is one of the major neurologic diseases, and astrocytes play important roles in epileptogenesis. To investigate possible roles of astrocyte-related receptors in patients with intractable epilepsy associated with focal cortical dysplasia (FCD) and other conditions, we examined resected epileptic foci from 31 patients, including 23 with FCD type I, IIa, or IIb, 5 with tuberous sclerosis complex, and 3 with low-grade astrocytoma. Control samples were from 21 autopsied brains of patients without epilepsy or neurologic deficits and 5 patients with pathologic gliosis without epilepsy. Immunohistochemical and immunoblot analyses with antibodies against purinergic receptor subtypes P2RY1, P2RY2, P2RY4, potassium channels Kv4.2 and Kir4.1, and metabotropic receptor subtypes mGluR1 and mGluR5 were performed. Anti–glial fibrillary acidic protein, anti-NeuN, and anti-CD68 immunostaining was used to identify astrocytes, neurons, and microglia, respectively. Most glial fibrillary acidic protein–immunopositive astrocyte cells in the brain samples from patients with epilepsy were P2RY1-, P2RY2-, P2RY4-, Kv4.2-, Kir4.1-, mGluR1-, and mGluR5-positive, whereas samples from controls and pathologic gliosis showed lower expression levels of these astrocyte-related receptors. Our findings suggest that, although these receptors are necessary for astrocyte transmission, formation of the neuron-glia network, and other physiologic functions, overexpression in the brains of patients with intractable epilepsy may be associated with activation of intracellular and glio-neuronal signaling pathways that contribute to epileptogenesis.

Background Small bowel obstruction is one of the leading reasons for accessing to the Emergency Department. Food poisoning from Clostridium botulinum has emerged as a very rare potential cause of small bowel obstruction. The relevance of this case report regards the subtle onset of pathognomonic neurological symptoms, which can delay diagnosis and subsequent life-saving treatment. Case presentation A 24-year-old man came to our Emergency Department complaining of abdominal pain, fever and sporadic self-limiting episodes of diplopia, starting 4 days earlier. Clinical presentation and radiological imaging suggested a case of small bowel obstruction. Non-operative management was adopted, which was followed by worsening of neurological signs. On specifically questioning the patient, we discovered that his parents had experienced similar, but milder symptoms. The patient also recalled eating home-made preserves some days earlier. A clinical diagnosis of foodborne botulism was established and antitoxin was promptly administered with rapid clinical resolution. Conclusions Though very rare, botulism can mimic small bowel obstruction, and could be associated with a rapid clinical deterioration if misdiagnosed. An accurate family history, frequent clinical reassessments and involvement of different specialists can guide to identify this unexpected diagnosis.

We studied prospectively 105 unselected patients complaining of ptosis and/or diplopia due to extrinsic ophthalmic muscle palsies without other neurological signs. All patients underwent the same diagnostic protocol. The presenting symptoms were: ptosis, 35 patients (33%); diplopia, 27 patients (26%); ptosis and diplopia, 43 patients (41%). The oculomotor nerve was most frequently involved, followed by the abducens nerve. The final diagnoses were: ocular myasthenia, intracranial and/or orbital pathology, thyroid ophthalmopathy, diabetic ophthalmoplegia, mitochondrial myopathy, oculopharyngeal muscular dystrophy. In 26 patients (25%) the cause remained undetermined. Our study confirms the difficulty of establishing an aetiological diagnosis in patients with isolated ocular palsies.

Background Neurotoxicity is a common side effect of treatment with calcineurin inhibitors. Tremors are frequently reported as the most common manifestation. Variable presentations can include headaches, seizures, visual hallucinations or blindness. Sixth nerve palsy has been reported in previous cases of bone marrow and cardiac transplant patients receiving calcineurin inhibitors. In many of these previously reported cases, the drug was administered intravenously and very high drug levels were found. Case presentation We report the first case of isolated diplopia in a patient being treated for idiopathic membranous glomerulonephritis. This is also the first report where the neurotoxicity induced by initial tacrolimus therapy persisted with subsequent cyclosporine therapy, two structurally different calcineurin inhibitors which share a common mechanism of action. In our case toxicity occurred after 3 months of therapy despite low serum concentrations and the symptoms resolved completely after discontinuation of the drugs. Conclusion Our case provides further evidence that the neurotoxicity is a result of calcineurin inhibition. Monitoring of serum concentrations of these drugs has not been correlated with toxicity. The mean duration to onset of symptoms can be as much as 70 days suggesting accumulation of the drug in the central nervous system plays a role. Recognition of this condition is important for prompt diagnosis and appropriate management.