1.Performance evaluation of Candida spp.latex immunochromatography
Changhong LYU ; Tingting ZENG ; Desong MING
International Journal of Laboratory Medicine 2017;38(7):895-896,899
Objective To preliminarily evaluate the performance and species specificity of Candida spp.latex immunochromatography kit for detecting Candida spp.in vaginal secretion.Methods The vaginal secretions in 354 cases of suspected vaginitis and 9 genus of 22 species of common vaginal infecting organisms were by adopting the smear/Gram staining and Candida spp.kit.The results were compared with those detected by smear/Gram staining semi-quantitative method.The detection performance and species specificity of Candida spp.kit for detecting clinical specimens were evaluated.Results Compared with the smear/Gram staining method,the sensitivity,specificity,accuracy,positive predictive value and negative predictive value of Candida sp.kit were 93.81%,99.10%,97.31%,98.14% and 96.90%,respectively;compared the smear/Gram staining semiquantitative method,the Candida spp.kit for detecting Candida spp.in vaginal secretion still had higher specificity and acceptable sensitivity when the Candida spp.concentration was lower in specimens;in the speciese specificity evaluation,6 kinds of Candida spp.were positive and other 16 kinds of common vaginal infecting organisms all were negative.Conclusion The Candida spp.kit for detecting Candida spp.in vaginal secretion has higher clinical and species specificity,sensivity,positive prediction value and negative prediction value.
2.Significance of triggering receptor expressed on myeloid cells-1 of cord blood leukocytes in neonates
Xiaowen WENG ; Lei QIAN ; Qiangsheng LYU ; Changhong SUN ; Hui ZHOU
Chinese Journal of Perinatal Medicine 2015;(7):533-537
Objective To investigate the triggering receptor expressed on myeloid cells-1(TREM-1) of cord blood leukocytes in neonates and the transcription level of mRNA, and analyze its promoting function of inflammatory cytokine secretion. Methods During the period from September 2013 to March 2014, cord blood was collected from 20 term neonates at the time of birth, and peripheral blood was collected from 20 healthy adults. The expression of TREM-1 and TREM-1 mRNA on leukocytes was observed using flow cytometry and real-time reverse transeription-polymerase chain reaction, respectively. After the whole cord blood was stimulated by lipopolysaccharide (LPS) or LP17 plus LPS, the contents of interleukin (IL)-6, tumor necrosis factor-α (TNF-α), IL-8 and soluble TREM-1 (sTREM-1) in the supernatant were analyzed by enzyme linked immunosorbent assay. The statistical significance was determined using the one-way ANOVA test, t test, q test and Pearson correlation coefficient. Results The mean fluorescence intensity of TREM-1 on leukocytes of newborns was not different compared with healthy adults (P>0.05), while the percentage of TREM-1 positive on polymorphonuclear cells was lower than that of healthy adults [(82.3±7.1)% vs (98.6±4.8)%, P<0.05]. The level of TREM-1 mRNA in newborns was lower than in healthy adults (1.16±0.13 vs 1.63±0.24, t=7.714, P<0.01). The LPS treatment significantly increased sTREM-1 in newborn whole blood compared with the control treatment [(156.7±36.3) vs (34.6±6.1) pg/ml, t=13.623, P<0.01]. The concentration of IL-6, TNF-αand IL-8 decreased significantly when TREM-1 was blocked by LP17. In addition, the concentration of sTREM-1 showed a positive correlation with the levels of TNF-α(r=0.519, P<0.05), IL-6 (r=0.507, P<0.05) and IL-8 (r=0.538, P<0.05). Conclusions Healthy newborns exhibit expression of TREM-1 on monocytes similar to healthy adults, and most PMNs express TREM-1 at the newborn stage. Blocking the TREM-1 signal transduction pathway may reduce inflammatory responses of neonate leukocytes.
3.Efficacy of sugammadex for reversal of residual neuromuscular blockade after laparoscopic radical gastrectomy in elderly patients
Yi ZHOU ; Bo ZHAO ; Changsheng LI ; Shuaiguo LYU ; Changhong MIAO ; Xihua LU
Chinese Journal of Anesthesiology 2021;41(1):59-62
Objective:To evaluate the efficacy of sugammadex for the reversal of residual neuromuscular blockade after laparoscopic radical gastrectomy in elderly patients.Methods:Sixty patients of both sexes, aged 65-85 yr, with body mass index of 20-26 kg/m 2, of American Society of Anesthesiologists physical status Ⅰ-Ⅲ, undergoing elective laparoscopic radical gastrectomy under general anesthesia, were divided into 2 groups ( n=30 each) by a random number table method: sugammadex group (S group) and neostigmine group (N group). Rocuronium 0.3-0.6 mg·kg -1·h -1 was intravenously infused during operation, and the muscle relaxation was monitored by a Veryark-TOF monitor, maintaining TOF ratio=0 and counting 1 or 2 after tonic stimulation.Rocuronium was discontinued when the peritoneum was closed.The patients were admitted to the PACU after operation.When the muscle relaxation monitoring T 2 appeared, sugammadex 2 mg/kg was intravenously injected in S group, and neostigmine 0.03 mg/kg plus atropine 0.015 mg/kg was intravenously injected in N group.The tracheal tube was removed after the patient′s consciousness and spontaneous breathing recovered.Before anesthesia (T 1) and 5 and 30 min after tracheal extubation (T 2, 3), arterial blood samples were collected for blood gas analysis, PaO 2 and PaCO 2 were recorded, and ultrasound was used to measure the diaphragm end-inspiratory thickness, end-expiratory thickness and mobility of diaphragm muscle at the above time points.The diaphragm thickening fraction was calculated.The time of T 2 appeared, time of extubation, time of postanesthesia care unit (PACU) stay, postoperative hospital stay, and residual neuromuscular blockade (TOF ratio <0.9) and hypoxemia occurred within 30 min after extubation were recorded.The pulmonary complications within 7 days after operation were recorded. Results:Compared with group N, PaO 2 was significantly increased and PaCO 2 was decreased at T 2, 3, the mobility of diaphragm muscle and diaphragm thickening fraction were increased at T 2, the tracheal extubation time, time of PACU stay and postoperative hospital stay were shortened, the residual neuromuscular blockade and hypoxemia occurred after extubation and incidence of pulmonary complications after operation were decreased ( P<0.05), and no significant change was found in the time of T 2 appeared in group S ( P>0.05). Conclusion:Sugammadex can quickly and effectively reverse the residual neuromuscular blockade after laparoscopic radical gastrectomy, which is helpful for early postoperative recovery in elderly patients.
4.Effects of enriched environment on behavior and expression of mitogen-activated protein kinase phosphatase-1 in hippocampus of depression rats
Liqin ZHAO ; Yan LI ; Qiujing SHAO ; Tingting LYU ; Jingyang GU ; Cong LIU ; Jinhong HAN ; Xiangyang ZHANG ; Changhong WANG
Journal of Xinxiang Medical College 2017;34(9):798-802
Objective To investigate the effect of enriched environment (EE) on behavior and expression of mitogenactivated protein kinase phosphatase-1 (MKP-1) in hippocampus of depression rats induced by chronic unpredicted mild stress (CUS) and to provide clues for the molecular mechanism of treating depression.Methods Forty Sprague-Dawley rats were randomly divided into control group,CUS group,fluoxetine group and EE group,with 10 rats in each group.The rats in CUS group,fluoxetine group and EE group were given 8 weeks of CUS,and from the fifth week,the rats in EE group and fluoxetine group were given EE and fluoxetine for 4 weeks,respectively.The changes of behavioristic of the rats in the four groups were evaluated by body mass gain,open field test,and sucrose preference.The expression of MKP-1 in hippocampus was detected by Western blot.Results There was no significant difference in body mass,distance of horizontal movement,the number of upright,the times of passing through the grid and sucrose preference index among the four groups(P > 0.05).After modeling,compared with the control group,the body mass gain,distance of horizontal movement,the number of up-right,the times of passing through the grid and sucrose preference index in the CUS group,fluoxetine group and EE group were decreased significantly(P < 0.05);there was no significant difference in the body mass gain,distance of horizontal movement,the number of up-right,the times of passing through the grid and sucrose preference index among the CUS group,fluoxetine group and EE group(P > 0.05).After intervening by fluoxetine and EE,the body mass gain,distance of horizontal movement,the number of up-right,the times of passing through the grid and sucrose preference index in the CUS group were lower than those in the control group(P <0.05);but there was no significant difference in the body mass gain,distance of horizontal movement,the number of up-right,the times of passing through the grid and sucrose preference index between the control group and the fluoxetine group and EE group(P > 0.05).Compared with the CUS group,the body mass gain,distance of horizontal movement,the number of up-right,the times of passing through the grid and sucrose preference index in the fluoxetine group and EE group were higher(P < 0.05);there was no significant difference in the body mass gain,distance of horizontal movement,the number of up-right,the times of passing through the grid and sucrose preference index between the fluoxetine group and EE group (P > 0.05).The expression of MKP-1 in hippocampus of CUS group and EE group was higher than that in the control group (P <0.05).There was no significant difference in the expression of MKP-1 in hippocampus between the fluoxetine group and control group(P > 0.05).Compared with the CUS group,the expression of MKP-1 in hippocampus in the fluoxetine group decreased (P < 0.05).There was no significant difference in the expression of MKP-1 in hippocampus between the EE group and CUS group(P >0.05).Compared with the fluoxetine group,the expression of MKP-1 in hippocampus in the EE group was higher(P < 0.05).Conclusion EE can significantly improve depressive symptoms in rats,but it has no significant effect on MKP-1 protein expression in hippocampus,and EE may not act on depression by affecting MKP-1.
5.Clinical characteristics and follow-up of pediatric patients with neuromyelitis optica and neuromyelitis optica spectrum disorders.
Wu YUN ; Zhang WEIHUA ; Ren XIAOTUN ; Li JIUWEI ; Yang XINYING ; Lyu JUNLAN ; Ding CHANGHONG ; Chen CHUNHONG ; Ren HAITAO ; Cui LIYING ; Fang FANG
Chinese Journal of Pediatrics 2015;53(4):268-273
OBJECTIVETo analyze the clinical characteristics of pediatric neuromyelitis optica (NMO) and neuromyelitis optica spectrum disorders (NMOSD).
METHODA retrospective analysis was performed evaluating clinical and laboratory characteristics of ten NMO and NMOSD children who were seen in our hospital from December 2010 to May 2014. Median age at onset was 8.9 years (range 0.8-13.8 years). Seven cases were female and three were male. Median disease duration was 1.5 months (range 1-18.5 months).
RESULTEight patients fulfilled diagnostic criteria for NMO and two patients fulfilled diagnostic criteria for NMOSD. The two NMOSD patients had recurrent longitudinally extensive transverse myelitis. Four cases had a monophasic disease course, and six cases had a recurrent course. In eight NMO patients, neuritis was the initial presentation. The two NMOSD patients had no neuritis in the first attack. Nine cases had clinical manifestations of myelitis, one case had asymptomatic spinal cord MRI anomaly. Among the ten patients, seven cases had brain lesions, wherein, four cases had the midbrain involvement and in four cases extensive hemispheric white matter was involved. Three cases had medullary involvement. And two cases had posterior limb of the internal capsule involvement, two cases had thalamus involvement. In one case there was pons, cerebellum or corpus callosum involvement, respectively. One case had accompanied brain symptoms. Of the five patients who had symptomatic brain lesions, four cases had encephalopathy accompanied by large hemispheric lesions on MRI, having a presentation similar to acute disseminated encephalomyelitis. And one case had multiple sclerosis like brain lesion. Of the ten patients tested, nine were seropositive for anti-aquaporin-4 autoantibody. One-patient was complicated with systemic lupus erythematosus. Oligoclonal bands were negative in all cases. All patients received treatment for acute attacks with high-dose intravenous methylprednisolone and intravenous gammaglobulin. The symptoms of 8 cases mitigated. Two cases whose symptoms showed no sign of improvement received plasmapheresis for acute attacks. Seven of the patients were followed up. The median duration of follow-up was 19 months (ranged from 13 months to 30 months). The median Expanded disability status (EDSS) score was 3 (range 1-7).
CONCLUSIONPediatric NMO and(or) NMOSD have a diverse clinical presentation which are more than just optic neuritis and transverse myelitis, including brain symptom. So it may be difficult to distinguish NMO and( or) NMOSD from acute disseminating encephalomyelitis and multiple sclerosis in the early stages of the disease. Antibodies to aquapoin-4 (AQP-Ab) testing is very important for differential diagnosis.
Adolescent ; Anti-Inflammatory Agents ; therapeutic use ; Aquaporin 4 ; Autoantibodies ; Brain ; Brain Diseases ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Methylprednisolone ; therapeutic use ; Multiple Sclerosis ; etiology ; Neuromyelitis Optica ; complications ; diagnosis ; drug therapy ; Retrospective Studies
6.Clinical features and genetic characteristics of children with tyrosine hydroxylase deficiency caused by TH gene variants
Lifang DAI ; Changhong DING ; Fang FANG ; Weihua ZHANG ; Ming LIU ; Xiaojuan TIAN ; Xiaotun REN ; Xiaohui WANG ; Jiuwei LI ; Xiuwei ZHUO ; Shen ZHANG ; Junlan LYU ; Husheng WU
Chinese Journal of Applied Clinical Pediatrics 2021;36(8):574-579
Objective:To summarize the clinical characteristics and genetic features of tyrosine hydroxylase deficiency(THD) caused by TH gene variants for the improvement of the understanding of the disease. Methods:The clinical and genetic data of 33 children with THD caused by TH gene variants were diagnosed in the Department of Neurology of Beijing Children′s Hospital, Capital Medical University from May 2011 to January 2020 and their data were retrospectively collected and analyzed. Results:There were 19 females and 14 males.The age at onset was ranged from 0 to 6.3 years.13 patients developed diseases, accompanied with fever after infection, and 1 patient suffered from hypoxia, 19 patients suffered from no predisposing factors.There were 7 mild TH-deficient dopa-responsive dystonia cases, 16 severe TH-deficient infantile parkinsonism with motor delay cases and 10 very severe TH-deficient progressive infantile encephalopathy cases.Clinical symptoms were fluctuating, including 26 cases of diurnal fluctuation, 22 cases of infection aggravation, and 30 cases of fatigue aggravation.The initial symptoms included tiptoeing and numbness in the limbs(7 cases), motor development retardation or degression (26 cases), fremitus (8 cases), ptosis (2 cases), and status dystonicus (3 cases). Other clinical features had hypermyotonia (23 cases), hypomyotonia (27 cases), decreased movement (27 cases), decreased facial expression (24 cases), fremitus (18 cases), tiptoeing (20 cases), talipes equinovarus (7 cases), ptosis (8 cases), oculogyric crisis (10 cases), salivation (21 cases), dysphagia (12 cases), dysarthria (16 cases), dyspnea (3 cases), increased sleep (10 cases), decreased sleep (5 cases), irritable mood (15 cases), apathetic mood (2 cases), profuse sweating (8 cases), and status dystonicus (6 cases). A total of 6 patients′ right limbs were more severe, and 14 patients′ lower limbs were more severe.Eight patients had family history, and Levodopa treatment was effective for all patients.Ten patients suffered side effects, including dyskinesia and irritability.Four patients were lost follow-up, and 29 patients were followed up between 0.8 and 13.2 years old until Ja-nuary 2020.Totally, 22 patients almost had no such symptoms.Twenty-five TH gene pathogenic variants were discovered in 33 patients.There were 13 novel variants (c.1160T>C, c.1303T>C, c.887G>A, c.1084G>A, c.1097A>T, c.734G>T, c.907C>G, c.588G>T, c.992T>G, c.755G>A, c.184-6C>T, c.1510C>T, c.910G>A) and 2 patients had c. 910G>A variant.Meanwhile, there were 5 hot variants [c.698G>A(13 cases), c.457C>T(9 cases), c.739G>A(6 cases), c.1481C>T(4 cases), c.694C>T(3 cases)]. c.910G>A(2 cases) may be the foun-der variant of Chinese population. Conclusions:THD caused by TH gene variant mostly onsets from infant, with complex clinical features.Most of these patients were severe, and only a few were very severe and mild.Very severe and mild symptoms were easily misdiagnosed.Levodopa treatment was obviously effective.A possible founder variant of Chinese population (c.910G>A) was found.c.698G>A and c. 457C>T mutations mainly appeared in patients with severe and extremely severe THD, while c. 739G>A mainly appeared in patients with mild THD.
7. Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants
Weihua ZHANG ; Xiaotun REN ; Weixing FENG ; Chunhong CHEN ; Changhong DING ; Junlan LYU ; Tongli HAN
Chinese Journal of Pediatrics 2019;57(7):543-547
Objective:
To characterize fever-induced paroxysmal weakness and encephalopathy (FIPWE) caused by ATP1A3 gene pathogenic variant.
Methods:
Phenotypic and genotypic characteristics of 4 FIPWE patients (3 boys and 1 girl), who were ascertained from October 2016 to March 2018 in Beijing Children's Hospital due to ATP1A3 heterozygous variants, were retrospectively analyzed. The whole exsome sequencing was used for genetic testing.
Results:
The onset ages of 4 patients were 2 years and 9 months, 2 years and 4 months, 8 months, 2 years and 5 months respectively. The episode ranged from 1 to 3 times, and at 3 months to 2 years and 10 months intervals. All 4 patients had symptoms of limb weakness and encephalopathy, accompanied with mild to severe ataxia or athetosis. The tendon reflex was absent in all patients, and the Babinski's sign was positive. Three patients had dysphagia and 3 patients had slurred speech. Three patients had abnormal eye movements, including strabismus and opsoclonus. None of the 4 patients exhibited visual impairment, auditory impairment or talipes cavus. The duration of acute phase ranged from 1 week to 3 months. In 3 relapsing patients, symptoms became progressively worse, with relapses occurring frequently and recovery being more difficult, and various sequelae were found after the last relapse. All patients carried heterozygous variant in ATP1A3 gene. The missense variants result in the substitution of an arginine residue at position 756. Three variants were identified, including C. 2267G > T (p. R756L) (1 case), C. 2266C > T (p. R756C) (2 cases), and C. 2267G > A (p. R756H) (1 case). Three were de novo and one inherited from his father, but the grandparents did not carry the variant. All variants were reported as pathogenic.
Conclusions
FIPWE is one of new clinical phenotypes of ATP1A3 spectrum disease and most cases are sporadic. The missense variants result in the substitution of an arginine residue at position 756. This report provided insights into the phenotype-genotype association in patients with FIPWE caused by pathogenic variants of ATP1A3.
8.Modified efficacy of thoracic paravertebral block combined with general anesthesia in patients undergoing laparoscopic radical nephrectomy
Shuaiguo LYU ; Xihua LU ; Changsheng LI ; Tiejun YANG ; Yalin SUN ; Yu BAI ; Jinxiu HUANG ; Xintao LI ; Changhong MIAO
Chinese Journal of Anesthesiology 2020;40(7):817-820
Objective:To evaluate the modified efficacy of thoracic paravertebral block (TPVB) combined with general anesthesia in the patients undergoing laparoscopic radical nephrectomy.Methods:Eighty patients, aged 38-64 yr, with body mass index of 18-24 kg/m 2, of American Society of Anesthesiologists physical status Ⅰ or Ⅱ, scheduled for elective laparoscopic radical nephrectomy, were selected and randomly divided into 2 groups ( n=40 each) using a random number table method: general anesthesia group (group GA) and TPVB combined with general anesthesia group (group TPVB+ GA). A paravertebral catheter was placed at T 8 and T 10 under ultrasound guidance before induction of anesthesia, and 0.5% ropivacaine 10 ml was administered via the catheter in group TPVB+ GA.Anesthesia was induced with propofol, sufentanil, etomidate and rocuronium and maintained by intravenous infusion of propofol and remifentanil.Patient-controlled intravenous analgesia was performed with sufentanil, ketorolac tromethamine and tropisetron at the end of surgery.When postoperative visual analog scale score≥4, tramadol 50 mg was intravenously injected as rescue analgesic.Immediately before anesthesia induction (T 0), at 5 min after establishing pneumoperitoneum (T 1), at 2 h of pneumoperitoneum (T 2), and immediately after the end of pneumoperitoneum (T 3), and at 24 h after operation (T 4), venous blood samples were collected for determination of plasma norepinephrine concentrations (by enzyme-linked immunosorbent assay), plasma cortisol level (using radioimmunoassay), and blood glucose concentrations were measured.The intraoperative consumption of sufentanil and remifentanil was recorded.The intraoperative hypertension, hypotension, and bradycardia were recorded, and the nausea and vomiting, pruritus, and requirement for rescue analgesia occurred within 24 h after surgery were recorded. Results:Compared with group GA, the plasma concentrations of norepinephrine, cortisol and blood glucose were significantly decreased at T 1-4, the intraoperative consumption of sufentanil and remifentanil was reduced, and the postoperative requirement for rescue analgesia was decreased in group TPVB+ GA ( P<0.05). There was no significant difference in the incidence of intraoperative and postoperative adverse reactions between the two groups ( P>0.05). Conclusion:TPVB combined with general anesthesia is helpful in carrying out the anesthetic model of low-consumption opioids and is more helpful in inhibiting intraoperative and postoperative stress responses and postoperative pain responses than general anesthesia alone when used for laparoscopic radical nephrectomy.
9. Clinical and genetic characteristics of children with Leigh syndrome
Fang FANG ; Ying SHEN ; Danmin SHEN ; Zhimei LIU ; Changhong DING ; Wuchang ZHANG ; Suzhen SUN ; Junlan LYU ; Tongli HAN ; Xiaohui WANG ; Weihua ZHANG ; Xinying YANG ; Jiuwei LI ; Husheng WU
Chinese Journal of Pediatrics 2017;55(3):205-209
Objective:
To investigate the clinically and genetic characteristics of children with Leigh syndrome.
Method:
Patients with clinically diagnosed Leigh syndrome(LS)in the department of Neurology, Beijing Children′s Hospital from January 2013 to February 2016 underwent the mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) detecting with next generation sequencing (NGS) technology. The clinical data of gene confirmed cases were retrospectively collected and analyzed. The differences in the onset age, clinical manifestations, lactic acid level and MRI results between the mtDNA variation and nDNA variation were compared and analyzed.
10. Clinical features and diagnosis of childhood leukoencephalopathy with cerebral calcifications and cysts in four cases
Hong JIN ; Husheng WU ; Changhong DING ; Zhen JIN ; Yu HUANG ; Chunju ZHOU ; Weihua ZHANG ; Junlan LYU ; Lifang DAI ; Xiaotun REN ; Ming GE ; Fang FANG
Chinese Journal of Pediatrics 2018;56(7):539-544
Objective:
To investigate the clinical features and diagnostic bases of childhood leukoencephalopathy with cerebral calcifications and cysts (LCC).
Methods:
The clinical data involving manifestations and laboratory examinations of 4 children with LCC admitted to Beijing Children's Hospital Affiliated to Capital Medical University from 2012 to 2017 were retrospectively summarized. Each patient had a follow-up visit ranging from 4 months to 5 years and 9 months after initial examination.
Results:
Patients consisted of 2 males and 2 females, whose age of onset was respectively 2 years and 9 months, 6 years and 2 months, 7 years and 10 months, and 5 years and 1 month. The main clinical symptoms of these cases included headache, dizziness, partial seizure and claudication, and two of these cases had insidious onset. Cerebral calcifications and cysts with leukoencephalopathy were detected by neuroimaging in all patients. In addition, multifocal microhemorrhages and calcifications were observed by magnetic susceptibility-weighted imaging (SWI) series in 3 patients. Brain biopsy performed on 1 case disclosed a neuronal reduction in the cerebral cortex, loosening of focal white matter, multifocal lymphocyte infiltration, fresh hemorrhages, and gliosis, as well as angiomatous changes of blood vessels with hyalinized thicken-wall, stenotic or occlusive lumina and calcification deposits. The compound heterozygous mutations of n.*10G>A and n.82A>G in SNORD118 were identified in 1 case by target-capture next-generation sequencing. Sanger sequencing verified that the variant n.*10G>A was a novel mutation and it was of paternal-origin, while the variant n.82A>G was of maternal-origin, which had already been reported to be pathogenic to LCC. Follow-up study had shown continued partial seizure in 1 case and remissive claudication in another, while the remaining 2 cases had a relatively favorable outcome without obvious neurological symptoms at present time.
Conclusions
The clinical manifestations of LCC are nonspecific, and the onset of the disease tends to be insidious. The triad neuroimaging findings of cerebral calcifications, cysts and leukoencephalopathy are essential to the diagnosis of the disease, and the signals of microhemorrhages revealed by SWI series provide another eloquent reference for the diagnosis. As biopsy is invasive and usually unavailable in the early stage, gene assessment, instead of pathological data, should be the gold standard in the diagnosis of LCC.