Post-transplant lymphoproliferative disorder (PTLD) is a solid organ or hematopoietic stem cells transplant associated syndrome, and central nervous system PTLD(CNS-PTLD) is extremely rare. A case of CNS-PTLD occurring after 24 years of kidney transplant was reported, and pathological examination proved it to be diffuse large B cell lymphoma. Cerebrospinal fluid next generation sequencing and pathological examination supported that Epstein-Barr virus infection was associated with it.

Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.

The 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease was held in Perth, Australia from December 4 to 6, 2019. This article mainly introduces the clinical research of this meeting, including epidemiology, non-motor symptoms, auxiliary examinations and biomarkers, etc., while the basic research includes genomics and genetics, protein metabolism abnormalities, neuroimmunity and inflammation, synapse pathology and preclinical treatment strategies,

Objective To explore the pathogenesis of Hirayama disease from juvenile cervical curvature and growth rate.Methods Totally 60 patients diagnosed with Hirayama disease (HD) from 2009 to 2011 in our hospital were included in the present study.Patient's height and growth rate 1-2 years prior to the onset of disease were recalled by patients and family members.Lateral cervical X-ray was examined,and cervical curvature was measured by Borden's method.Results All the patients were adolescents with onset age at 12-25 (17.0 ± 2.4) years old and peak age of onset at 15-18 [45 cases (75.0％)].Fifty-seven cases were male and 3 cases were female.Cervical MRI examination of the 60 cases showed that the spinal cord atrophy involving C4-C8 vertebral level.The C line values for cervical curvature by Borden's method of the patients was 2.6 (1.2,4.2) mm.Among 60 patients,57 of them were with abnormal cervical curvature.The average height growth rate 1 year prior to the onset was (7.1 ± 1.8) cm.Conclusions The clinical manifestations that featured in overgrowth in the first two years and abnormal cervical vertebra curvature are possible related with pathogenesis of HD.HD is possibly a cervical spinal cord compression disease,which is associated with cervical spinal dysplasia during juvenile growth.

Objective To explore the clinicopathological features and imaging characteristics of non-Langerhans cell histiocytosis in central nerve system,thus to facilitate the diagnosis and differential diagnosis.Methods A total of ten cases were enrolled in the study,with seven cases of Rosai-Dorfman disease(RDD) and three cases of xanthoma disseminatum (XD).Data on the clinicopathological features,imaging,immunophenotype and prognosis were collected and analyzed.Results Seven patients with RDD,5 males and 2 females with the mean age of 46.7 years old,all presented as dural-based or intraparenchymal hypo-to isointense lesions on T1 and T2 with post-contrast enhancement.The polymorphous admixture of histiocytes,lymphocytes and plasma cells was observed in a fibrous stroma,with emperipolesis of some histiocytes.The immunohistostaining of CD11c,CD68,MAC387 and S-100 was positive in the histiocytes,while the staining of CD1α was negative.Five patients recovered after the operation,while one patient died of the disease.All the 3 XD patients were female,with the median age of 20.7 years old.All XD patients presented as multiple intraparenchymal hypointense lesions on T1 and hyperintense lesions on T2 with post-contrast enhancement.The infiltration of foam-like histiocytes,a few Touton giant cells,lymphocytes and eosnophils was observed in all XD patients.The immunohistostaining of CD68 and CD11c was positive in the histiocytes and that of MAC387 partly positive,while the staining of S-100 and CD1α was negative.One XD patient survived well,while another one died of the disease.Conclusions The diagnosis of RDD and XD should be based on their typical morphology and immunophenotype and should be differentiated from Langerhans cell histiocytosis and other non-Langerhans cell histiocytosis.Non-Langerhans cell histiocytosis in central nerve system often presents untypical clinical presentation and imaging features,thus the communication and cooperation between clinician and pathologist is needed.

Adolescent ; Adult ; Female ; Humans ; Mutation ; Paraplegia ; genetics ; Polymerase Chain Reaction ; Proteins ; genetics ; Young Adult

Objective To explore the clinical and radiological features of bilateral thalamus venous infarction.Methods The cases definitely diagnosed as thalamus venous infarction were collected and the corresponding clinical and radiological data were retrospectively analyzed.Results Four cases confirmed as thalamus venous infarction by digital substraction angiography (DSA) were collected.Bilateral thalamus lesions were detected in all cases by brain MRI scans which mainly presented as thalamus edema with high T1 and T2 signals with partial enhancement.Mild hemorrage was also shown in one case.Acute or subacute onset with clinical manifestations of headache,hypomnesia and hypersomnia were reported in all cases.The neurological examination showed conscious disturbance,memory impairment and positive Babinski sign.The venous thrombi were formed mainly in the transverse and the straight sinuses in 3 cases with the deep cerebral venous involved in 2 cases.All patients were improved after the anticoagulation therapy.Dural arteriovenous fistula was found in the other case drained by the Rosenthal's vein,and the symptoms were ameliorated after the embolotherapy.Conclusions As the thalamus is drained by the thalamostriate vein and the lateral thalamic vein towards the internal cerebral vein with the caudate portion drained particularly by the Rosenthal's vein,venous thrombosis or fistula drainage into these veins would probably disturb the normal drainage of the thalamus and result in further edema and infarction.Thus,the venous infarction should be taken into consideration whenever bilateral thalamus lesions are encountered in clinical practice and DSA is necessary to confirm the diagnosis.

Objective To investigate the feature brain damage and clinical manifestations in neuromyelitis optica (NMO) patients; To investigate the relationship between serum NMO-IgG antibody and NMO brain damage. Methods Clinical data of 37 NMO patients and their head and spinal cord MRI by 1.5T superconducting MR scanner, were analyzed; serum NMO-IgG antibody were measured by immunofluorescence. Results 17 cases were found to have abnormal signals on MRI, which were mainly in the white matter, pons, medulla, ventricle, aqueduct, and around the corpus callosum; According to pathological changes, brain damage can be divided into scattered irregularity (13 cases), fusion (3 cases),multiple sclerosis-like (1 case) ,with scattered irregularity more common,5 cases had clinical manifestations of brain damage: somnolence, vomiting, diplopia, visual rotation, 11 cases patients with brainstem damage show positive serum NMO-IgG antibodies. Conclusions Brain damage can be seen in half of NMO patients, they often located in the high expression area of AQP4: brain white matter, periventricular,brainstem and so on. Clinical symptoms has nothing to do with the size of lesions but the location, they often occur when brainstem was involved. Serum NMO-IgG is helpful in differentiating NMO with brain damage and MS.

ObjectiveTo evaluate three methods of detecting anti-aquaporin 4 (AQP4) antibody in neuromylitis optica (NMO),including indirect immunofluorescence assay organization(IIF),cell immunofluorescence method (CBA) and ELISA.MethodsThe patients were divided into NMO group (n =29), multiple sclerosis (MS) group (n = 23),and healthy controls group (n = 50).IIF, CBA and ELISA were used in 3 groups to detect serum anti-AQP4 antibody.The sensitivity and specificity as well as the consistency of positive results were compared.ResultsIn the aspect of the sensitivity of the three antiAQP4 antibody to diagnosis NMO, CBA (72.4％) ＞ IIF (62.1％) ＞ ELISA (51.7％) ; in the aspect of specificity, CBA (100.0％) ＞ ELISA (98.6％) ＞ IIF (97.3％).Kappa testing and evaluation method showed that the three detection methods were all in good consistency, particular in CBA and ELISA (P ＜0.01).ConclusionsCBA method showed a highest specificity and sensitivity in all these three anti-AQP4 antibody detection methods.CBA and ELISA are in better consistency of positive results.

Objective To explore the early diagnosis of germinoma originating from the basal ganglia (BG) and thalamus during juveniles. Methods Retrospective analysis was done with the clinical cases of germinomas in BG and thalamus from 2000 to 2009. The symptoms, signs, neuroimaging,cerebrospinal fluid (CSF) findings were analyzed and related literature were reviewed. Results Eight patents were collected. The main symptoms were hemiplegia, associated with aphasia and/or impaired cognition. Brain CT showed high density and calcification. Abnormal T1 and T2 signal were found in brain MRI frequently associated with ipsilateral hemisphere atrophy. MRS showed increased choline and decreased N-acetylaspartate level. Elevated CSF human chorionic gonadotrophin level were found in two of them.Conclusions Germinoma in BG and thalamus predominates in a boy. The neuroimaging features are very informative for early diagnosis.