We report a case of anti-IgLON5 disease with a motor neuron disease-like presentation admitted to the Department of Neurology, Xuanwu Hospital, Capital Medical University in July 2021. The patient was a 71-year-old female who presented with the chief complaint of limb weakness persisting for 4 months. She showed progressive limb weakness accompanied by muscle atrophy. Electromyography (EMG) revealed extensive neurogenic damage. Initial serum evaluation for neural-specific autoantibodies was positive for IgLON5-Ab (1∶100). Repeat testing confirmed IgLON5-Ab positivity with a titer of 1∶1 000. The patient was diagnosed with anti-IgLON5 disease and treated with methylprednisolone and immunoglobulin, leading to clinical improvement. We found four relevant articles reporting a total of 11 similar cases. Thus, in this study, we analyzed a total of 12 cases, including our patient. Based on their clinical manifestations, these cases can be categorized into two types: amyotrophic lateral sclerosis(ALS)type and isolated bulbar type. Six cases—three males and three females—presented with the ALS type. Of these, three cases had diffuse limb weakness accompanied by muscle atrophy(two cases had diffuse hyperreflexia and one had a normal tendon reflex); one case presented with neck extensor weakness and bilateral asymmetric upper extremity weakness and was hyperreflexic at the bilateral patellar tendons; one case displayed asymmetric weakness in both lower limbs with normal deep reflexes, and one case exhibited neck weakness with hyperreflexia. EMG revealed diffuse lower motor neuron disease involving two or three regions. All patients tested positive for serum anti-IgLON5 antibodies. Four were also positive for anti-IgLON5 antibodies in cerebrospinal fluid, two were negative, and six were not tested. Among the 11 patients who received immunotherapy, 4 showed partial improvement in clinical symptoms, 2 exhibited transient improvement, 2 remained stable, and 3 showed no improvement. Testing for IgLON5-Ab should be considered among patients presenting with bulbar symptoms or ALS-like features, especially those with acute or subacute onset, rapid progression, autonomic dysfunction, vocal cord paralysis requiring tracheotomy, cognitive impairment, or involuntary movements. Early diagnosis and treatment may improve clinical symptoms and reduce adverse outcomes.

Objective:To improve the understanding of the clinical manifestation of immunoglobulin G 4-related disease (IgG 4-RD) with neurological involvement. Methods:Patients presenting with neurological symptoms and biopsy-confirmed IgG 4-RD were enrolled between March 2014 and March 2024 from the Department of Neurology of Xuanwu Hospital of Capital Medical University. Medical record data of all patients were retrospectively reviewed, including clinical manifestations, laboratory findings, radiological results, pathology, treatments, and outcomes. RD were enrolled between March Results:Nine patients (five males, four females; median age at onset: 63 years) were included in the study. Neurological manifestations consisted of pachymeningitis in six cases, peripheral nerve involvement in two, and brain parenchyma involvement in one. Four patients displayed isolated neurologic symptoms. The most common clinical manifestations were headache and cranial nerve palsy, each involving five cases. Magnetic resonance imaging showed thickening and enhancement of the dura mater in the six patients with pachymeningitis. Four of these cases involved the posterior cranial fossa, 3 presented with an inflammatory pseudotumor, and 2 involved the spinal cord. Four patients with pachymeningitis had normal serum IgG 4 concentrations. Eight patients exhibited elevated serum C-reactive protein or erythrocyte sedimentation rates, with some also showing decreased complement C3 and C4 levels. Cerebrospinal fluid immunoglobulin was elevated in all nine cases. In all cases, histopathologic biopsy results showed extensive infiltration of lymphocytes and plasma cells, with the latter displaying IgG 4+abnormalities. All patients received glucocorticoid therapy, with six also receiving immunosuppressants. All patients were followed up for a median of 30 months, with outcomes including two complete remissions, five partial remissions, one unchanged condition, and one death. Six patients experienced a relapse. Conclusions:Isolated hypertrophic pachymeningitis is the most common manifestation of IgG 4-RD, often occurring in the absence of elevated serum IgG 4 levels. Peripheral nerve and brain parenchyma involvement can also be seen. Clinical manifestations are non-specific, and histopathologic biopsy is frequently required for diagnosis. Although the disease responds well to hormone treatment, recurrence is common. Early combined immunosuppressive therapy can improve prognosis.

We report a case of anti-IgLON5 disease with a motor neuron disease-like presentation admitted to the Department of Neurology, Xuanwu Hospital, Capital Medical University in July 2021. The patient was a 71-year-old female who presented with the chief complaint of limb weakness persisting for 4 months. She showed progressive limb weakness accompanied by muscle atrophy. Electromyography (EMG) revealed extensive neurogenic damage. Initial serum evaluation for neural-specific autoantibodies was positive for IgLON5-Ab (1∶100). Repeat testing confirmed IgLON5-Ab positivity with a titer of 1∶1 000. The patient was diagnosed with anti-IgLON5 disease and treated with methylprednisolone and immunoglobulin, leading to clinical improvement. We found four relevant articles reporting a total of 11 similar cases. Thus, in this study, we analyzed a total of 12 cases, including our patient. Based on their clinical manifestations, these cases can be categorized into two types: amyotrophic lateral sclerosis(ALS)type and isolated bulbar type. Six cases—three males and three females—presented with the ALS type. Of these, three cases had diffuse limb weakness accompanied by muscle atrophy(two cases had diffuse hyperreflexia and one had a normal tendon reflex); one case presented with neck extensor weakness and bilateral asymmetric upper extremity weakness and was hyperreflexic at the bilateral patellar tendons; one case displayed asymmetric weakness in both lower limbs with normal deep reflexes, and one case exhibited neck weakness with hyperreflexia. EMG revealed diffuse lower motor neuron disease involving two or three regions. All patients tested positive for serum anti-IgLON5 antibodies. Four were also positive for anti-IgLON5 antibodies in cerebrospinal fluid, two were negative, and six were not tested. Among the 11 patients who received immunotherapy, 4 showed partial improvement in clinical symptoms, 2 exhibited transient improvement, 2 remained stable, and 3 showed no improvement. Testing for IgLON5-Ab should be considered among patients presenting with bulbar symptoms or ALS-like features, especially those with acute or subacute onset, rapid progression, autonomic dysfunction, vocal cord paralysis requiring tracheotomy, cognitive impairment, or involuntary movements. Early diagnosis and treatment may improve clinical symptoms and reduce adverse outcomes.

Objective:To improve the understanding of the clinical manifestation of immunoglobulin G 4-related disease (IgG 4-RD) with neurological involvement. Methods:Patients presenting with neurological symptoms and biopsy-confirmed IgG 4-RD were enrolled between March 2014 and March 2024 from the Department of Neurology of Xuanwu Hospital of Capital Medical University. Medical record data of all patients were retrospectively reviewed, including clinical manifestations, laboratory findings, radiological results, pathology, treatments, and outcomes. RD were enrolled between March Results:Nine patients (five males, four females; median age at onset: 63 years) were included in the study. Neurological manifestations consisted of pachymeningitis in six cases, peripheral nerve involvement in two, and brain parenchyma involvement in one. Four patients displayed isolated neurologic symptoms. The most common clinical manifestations were headache and cranial nerve palsy, each involving five cases. Magnetic resonance imaging showed thickening and enhancement of the dura mater in the six patients with pachymeningitis. Four of these cases involved the posterior cranial fossa, 3 presented with an inflammatory pseudotumor, and 2 involved the spinal cord. Four patients with pachymeningitis had normal serum IgG 4 concentrations. Eight patients exhibited elevated serum C-reactive protein or erythrocyte sedimentation rates, with some also showing decreased complement C3 and C4 levels. Cerebrospinal fluid immunoglobulin was elevated in all nine cases. In all cases, histopathologic biopsy results showed extensive infiltration of lymphocytes and plasma cells, with the latter displaying IgG 4+abnormalities. All patients received glucocorticoid therapy, with six also receiving immunosuppressants. All patients were followed up for a median of 30 months, with outcomes including two complete remissions, five partial remissions, one unchanged condition, and one death. Six patients experienced a relapse. Conclusions:Isolated hypertrophic pachymeningitis is the most common manifestation of IgG 4-RD, often occurring in the absence of elevated serum IgG 4 levels. Peripheral nerve and brain parenchyma involvement can also be seen. Clinical manifestations are non-specific, and histopathologic biopsy is frequently required for diagnosis. Although the disease responds well to hormone treatment, recurrence is common. Early combined immunosuppressive therapy can improve prognosis.

Objective To compare the differences of clinical and neuroimaging features between ischemic stroke patients with and without cancer. Methods From January 2013 and July 2017, 41 patients with active cancer diagnosed as acute ischemic stroke were retrospectively analyzed as research group. Besides, 41 age-and sex-matched patients diagnosed as acute ischemic stroke without cancer were selected as control group. The clinical date of both groups were collected and analyzed statistically. Results The percentages of hypertension, hyperlipidemia and past stroke were lower (χ2 > 5.549, P < 0.05), and the percentage of patients with cryptogenic stroke was higher in the research group than in the control group (χ2 > 17.537, P < 0.05). The hemoglobin level was lower (t = 4.609, P < 0.001), the D-dimer level was higher (t = -5.796, P < 0.001) in the research group than in the control group. Multiple vascular lesions of 53.7% patients in the research group were higher than 4.9% in the control group. The percentage of DWI lesions involving three vessel territories was higher in the research group than in the control group (χ2 > 17.995, P < 0.01). The percentage of multiple small lesions, and lesions located in cortical/subcortical lesions or cerebellum was higher in the research group than in the control group (χ2 > 8.159, P < 0.01). The 30 days mRS score after ischemic stroke (t = -3.222, P < 0.01) and the mortality rate within 30 days (P < 0.05) were higher in the research group than in the control group. Conclusion Compared with ischemic stroke patients without cancer, there were more cryptogenic stroke, higher D-dimer levels and poor prognosis in patients with active cancer. In ischemic stroke, patients with active cancer has a unique focal distributions characterized by more multiple vascular lesions involving three vessel territories and more lesions located in cortical/subcortical and cerebellum. The patients with ischemic stroke who conform to above characteristic should be paied attention to tumor screening.

Objective To describe the clinical features and magnetic resonance imaging (MRl) findings of brainstem infarction producing internuclear ophthalmoplegia (INO) as an predominant clinical manifestation.Methods The clinical data of 9 patients diagnosed with brainstem infarction presenting with INO by angiography and MRI diagnosis in our hospital were collected from January 2010 to October 2016.The clinical features and imaging findings of these patients were analysed,and the pathogenesis mechanisms was analysed by literature research.Results The median age of the 9 patients was 56 years old,and there were 5 young and middle aged cases (under 60 years old),accounted for 55.6％.Among them,8 cases (88.9％) with INO typically presenting with horizontal diplopia,the most common accompanied symptom was dizzness (accounted for 55.6％),and most of them (accounted for 77.8％) were unilateral.A total of 6 cases were anterior INO,3 cases were both anterior and posterior INO.Five cases (55.6％) retained converging movement.The MRI showed that paramedian ventral infarcts located in the the cerebral aqueduct were responsible for INO in 1 case,and paramedian dorsal infarcts located in the pons were responsible for INO in 8 cases.The magnetic resonance angiography (MRA) indicated that vascular occlusion or stenosis was found in posterior circulation in 6 patients,there were 5 cases with stenosis of the posterior cerebral artery which was the most common.The ocular symptoms,including diplopia and blurred vision,of 6 cases (66.7％) disappeared during their hospital stay (range:13-23 d,median:14 d).During following up,ocular symptoms of 1 case finally disappeared within 3 months.Conclusion Brainstem infarction presenting with INO is mainly caused by paramedian dorsal infarcts located in the pons,and most of the patients complicated with posterior circulation atherosclerotic lesions.The pathogenesis varies,and the patients have a good clinical prognosis.For the young and middle-aged patients presenting with diplopia as an initial symptom,it should pay more attention to differential diagnosis.

Objective This study aimed to investigate the clinical characteristics of cryptogenic stroke as the first manifestation of occult systemic malignancy (OSM) and to determine whether plasma D-dimer levels and lesions in multiple vascular regions could predict occult systemic malignancy in patients with cryptogenic stroke. Methods Data from 83 patients including 9 patients with OSM and 74 patients without OSM were extracted from the stroke database of Beijing Shijitan Hospital. Clinical variables were analyzed between cryptogenic stroke patients with OSM and without OSM. The relationshiop between plasma D-dimer levels or lesions in multiple vascular regions and OSM were analyzed by multiple logistic regression analysis. Results Compare to patients without OSM, patients with OSM was older (66.8± 7.5 vs.56.4±15.7,P=0.004)and had lower hemoglobin levels (127.9±19.8 vs.143.6±17.7,P=0.015),higher conut score [3(1,3) vs. 1(0,2), P=0.011], higher plasma D-dimer levels (77.7% vs. 13.5%, P<0.001) and more common lesions in multiple vascular regions(100% vs.23.0%, P<0.001).Multiple logistic regression analysis revealed that high plasma D-dimer levels are independent risk factors for OSM (OR=26.250,95%CI:3.041-226.604,P=0.003).Conclusions Patients with OSM are elderly people and have poorer nutritional status, higher plasma D-dimer levels and more common lesions in multiple vascular regions. High plasma D-dimer levels can be useful to predict OSM in patients with cryptogenic stroke at earlier stages.