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The clinical, imaging, genetic, therapeutic and prognostic features of a case of pediatric stroke who was finally diagnosed with Aicardi-Goutières syndrome (AGS) in Xi′an International Medical Center Hospital on October 24, 2021 were reported. A 10-year-old boy was admitted to the hospital due to weakness of the right limb for more than 10 hours. The pre-hospital CT showed multiple patchy calcifications in the bilateral frontal lobe and the right parietal lobe cortex-medullary junction. The physical examination on admission had chilblains on the hands, feet and face. National Institutes of Health Stroke Scale Score was 4 points. Brain magnetic resonance imaging showed acute brainstem infarction, no abnormality in magnetic resonance angiography, ultrasound and electrocardiogram of heart and neck vessels were normal, cerebrospinal fluid biochemistry and routine examination were normal, blood routine, biochemistry, coagulation, autoantibody series, thyroid function, tumor markers, human immunodeficiency virus and syphilis examinations were normal. After oral administration of aspirin anti-platelet aggregation and rehabilitation exercises, the muscle strength returned to normal and the patient was discharged. One month later, the result of genetic testing was reported as AGS caused by TREX1 gene mutation, and the mutation site is c.58G>A. AGS is a rare autoimmune hereditary encephalopathy with a large heterogeneity of clinical manifestations. When a hereditary disease was suspected, genetic testing should be done.
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The clinical characteristics, laboratory tests, treatment and prognostic characteristics of a case of neurexin-3α antibody-mediated autoimmune encephalitis,who was admitted in Xi′an International Medical Center Hospital on January 4, 2020 were summaried. The patient was a 56-year-old male with pre-symptoms of infection before his illness. The main manifestations were rapid progress of cognitive dysfunction, mental and behavioral abnormalities, refractory epilepsy, and status epilepticus, dystonia, accompanied by autonomic nerve involvement such as increased heart rate, breathing, and sweating, suspected of central hypoventilation, clinical manifestations were similar to N-methyl-D-aspartate-receptor (NMDAR) encephalitis and magnetic resonance imaging suggested bilateral hippocampal, temporal, and insular high signals, cerebrospinal fluid examination and other laboratory tests were normal. After treatment with methylprednisolone and intravenous immunogloblin, he died a few days after being discharged. The clinical manifestations of neurexin-3α antibody-mediated autoimmune encephalitis were similar to NMDAR encephalitis and severe, and neurexin-3α antibodies need to be further tested to confirm the diagnosis when NMDAR antibody was negative.
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Objective To summarize the clinical,electrophysiological profile and prognosis in paraneoplastic syndrome with SRY-like high-mobility group superfamily of developmental transcription factors (SOX) 1 antibody.Methods The clinical profile,laboratory examination,electrophysiology,tumor,treatment and prognosis of three patients of paraneoplastic syndrome with SOX1 antibody in Tangdu Hospital,Air Force Military Medical University from 2016 to 2018 were retrospectively analyzed.Results Proximal lower limbs weakness was the first symptom in all the three patients,weakness normally spreading proximally to distally,involving feet and hands,finally reaching the oculobulbar region,and dry mouth was the most common autonomic dysfunction.Compound muscle action potential (CMAP) amplitude was low in all the patients,and the CMAP amplitude became even lower at low stimulating frequencies.An increase in CMAP amplitude with high-frequency stimulation was found in two patients during the follow-up.Lambert-Eaton myasthenic syndrome (LEMS) and motor axonal peripheral neuropathy were considered.Acetylcholine receptors antibody was positive in one case and voltage-gated calcium channel antibody was positive in another case.Two cases were found complicated with small cell lung carcinoma,one case with small cell carcinoma of the esophagus.After treatment of intravenous immunoglobulin,chemotherapy and pyridostigmine,the prognosis of the patients was different.Conclusions SOX1 antibody as an antibody in paraneoplastic syndrome,is most common in small cell lung cancer with LEMS,sometimes with axonal peripheral neuropathy.LEMS needs to be considered when patients manifest proximal limb weakness and dry mouth,and screening for tumors is needed.
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Objective To investigate the expressions of CD28 and CD117 in patients with newly diagnosed multiple myeloma (MM) and their clinical significances. Methods The clinical data of 115 newly diagnosed MM patients in the First Affiliated Hospital of Zhengzhou University from May 2015 to December 2017 were retrospectively analyzed. The expressions of CD28 and CD117 were detected by using multiparameter flow cytometry. The relationship between the expressions of CD28 and CD117 and MM staging and clinical parameters was analyzed. The staging was performed according to the International Staging System (ISS). Results Among these 115 patients, there were 15 patients with CD117 positive and 30 patients with CD28 positive. Erythrocyte sedimentation rate (r ＝ -0.481, P ＝ 0.039), Cˉreactive protein level (r ＝ -0.314, P＝0.015), the proportion of plasma cells detected by bone marrow cytology (r＝-0.027, P＝0.001) were negatively correlated with CD117 positive expressions. CD28 positive expression was positively correlated with lactate dehydrogenase level (r ＝ 0.249, P ＝ 0.033) and ISS stage (r ＝ 0.319, P ＝ 0.017), while it was negatively correlated with hemoglobin level (r ＝ -0.372, P ＝ 0.026). CD28 positive was associated with light chain type, and nonˉsecretory type mostly occurred (P ＝ 0.016). The incidence of osteolytic lesions in CD28 positive group and CD117 positive group was high, but there was no statistical difference between CD28 positive group, CD117 positive group and CD28 negative group, CD117 negative group (P ＝ 0.052, P＝0.479). Conclusions The positive expression of CD117 in the early stage of MM patients is higher than that in the advanced stage, and the expression of CD28 positive in the advanced stage of MM patients is higher than that in the early stage. CD28 and CD117 can be used as indicators of prognosis stratification in the patients with newly diagnosed MM.
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Objective To identify the clinical profile and neuro-imaging findings of the right temporal lobe variant of semantic dementia (RTLV),and to understand the relationship between anatomic and function by comparison to the left temporal lobe atrophy.Methods Of 70 patients with diagnosis of frontotemporal dementia in our memory clinic,three patients with right temporal lobe atrophy were identified based on the MRI scans.We obtained the profile of cognitive function,behavior and personality changes in these 3 patients and compared them with those in 5 semantic dementia (SD) patients with predominant leftsided temporal lobe atrophy.We also underwent 18F-fluoro-2-deoxy-D-glucose positron emission tomography (18F-FDG-PET) with statistical parametric mapping analysis in these 3 patients.Results In RTLV patients,the most prominent cognitive deficits were impairment of prosopagnosia,and getting lost.Variety behavioral symptoms including apathy,social disinhibition,stereotypy,compulsive behaviors were more prevalent in early course for patients with RTLV,which were different from SD patients with semantic loss began with anomia or single-word comprehension.18F-FDG-PET scan showed decreased metabolism mainly in right temporal lobe and in other brain regions with varying degrees.Conclusions The RTLV is clinical heterogeneous.Prosopagnosia,behavioral changes and getting lost are the main features in the early course.It therefore,might be proposed a separate clinical entity.