De novo Huntington′s disease due to paternal intermediate alleles: a case report and literature review / 中华神经科杂志

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.

Central nervous system post-transplant lymphoproliferative disorder: a case report / 中华神经科杂志

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.

Summary of the 30th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neuron Disease / 中华神经科杂志

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,

To evaluate the cervical spine curvature and growth rate for studying the pathogenesis of Hirayama disease in adolescents / 中华内科杂志

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.

Clinicopathological study of non-Langerhans cell histiocytosis in central nervous system / 中华内科杂志

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.

The clinical and imaging study of thalamic venous infarction / 中华内科杂志

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.

The clinical and magnetic resonance imaging studies of brain damages in neuromyelitis optica / 中华内科杂志

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.

The early diagnosis of juvenile germinoma originating from the basal ganglia and thalamus / 中华内科杂志

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.

Comparison of three anti-aquaporin 4 antibody detection methods in neuromylitis optica / 中华内科杂志

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.

Neurological presentation of late-onset methylomalic aciduria / 中华内科杂志

with pyramidat tract and/or peripheral nerve symptoms.

Clinical Phenotype of Peripheral Myelin Protein 22 Gene Duplication Abnormality in Charcot-Marie-Tooth Disease / 中国康复理论与实践

@#: Objective To analyse the characteristics of symptoms, signs and electrophysiology in Charcot-Marie-Tooth disease (CMT) with peripheral myelin protein 22 (PMP22) gene duplication abnormality.Methods 61 patients with CMT, 14 patients with family history and 47 sporadic patients were included. PMP22 gene duplication fragment was detected with PCR-double enzyme cutting assay. Medical history, signs were collected. Some of them received lumbar puncture and sural nerve pathological examination. Results The main clinical manifestation of the patients with PMP22 gene duplication abnormlity were asthenia of both lower extremities, especially dorsiflexion of foot, accompanied with distal atrophy (especially bilateral legs), some with upper extremity distal atrophy, ankle hyporeflexia or vanished and sensory disturbance. Protein in cerebrospinal fluid may increase, giant potential and conduction velocity of sensory and motor nerve decreased. Sural nerve biopsies revealed demyelination accompanied with axonal degeneration.Conclusion The main clinical manifestation of patients with PMP22 gene duplication abnormlity is charactered as the distal atrophy and asthenia of lower limbs, accompanied with sensory abnormlity. Myelin sheath and axonal alteration were found in electromyogram and peripheral nerve pathology.

Sural Nerve Morphometrics of Motor Neuron Disease / 中国康复理论与实践

@#Objective To investigate the pathological features of sural nerve biopsy in patients with motor neuron disease （MND）. Methods 22 patients with amyotrophic lateral sclerosis (ALS) underwent sural nerve biopsy and routine electrophysiological examination. The transected images were captured and morphometrically analyzed.Results The myelinated fiber density decreased in ALS patients' sural nerves, and larger fibers were involved mostly. The thinly myelinated fibers increased. Conclusion The sural nerves of ALS patients shows mild but definite pathological changes.

A clinical analysis of methylmalonic addenda in adolescents / 中华内科杂志

Objective To investigate the clinical characteristics of methylmalonic academia in adolescence cases. Methods 4 cases were diagnosed methylmalonic academia by gas chromatography- masss pectrogram whose clinical, manifestations and treatment process were analyzed. Results The main clinical manifestations in 4 cases with methylmalonic academia were intellect impairment,epilepsy, pyramid signs; 2 of them suffered with hypopsia and optic atrophy, one of them suffered with papilledema. Symptoms were improved after treated with cobamamide and L-carnitine in all the 4 cases 1 months later. Conclusions The main clinical characteristics of methylmalonic academia in adolescence were intellect impairment, epilepsy and pyramid signs. The symptoms could be improved after treatment.

A clinical research of hirayama disease / 中华内科杂志

Objective To summarize and analyze the clinical features of Hirayama disease.Methods The authors summarized the clinical data of 29 cases of Hirayama disease in recent 9 years.Resuits All of the 29 cases were male and the age of onset was 12-25 years.22 of the 29 patients only had the symptoms of one upper Jimb and7 of them had symptoms of beth upper limbs.Most of them had symptems on the right or the symptoms were on more severe in the right than left.while only one case had symmetric symptoms of both upper limbs.The arm appeared as a slope,this was due to partial muscular atrophy.EMG indicated that the impairment of spinal anterior cells were limited to the arm relevant segments and both sides were involved.Cervical MRI scan suggested spinal atrophy at the level of C5-7 vertebral bodies.being asymmetric in most of the cases.The atrophy was more obvious on the side with more severe symptoms.There was one patient whose MRI showed high T2 signal in the spinal anterior cells of the C5-6 segments.All the cases used cervical supporter and were followed up for 1-5 years.All of them had good prognosis.Conclusions Hirayama disease is more common in men with hidden onset before 20 years of age.Most of the patients noted the symptoms of hands gradually about 2 years after a period of rapid growth in height in adolescence.The predominant clinical manifestations are as follows:atrophy of lower cervical cord in cervical MRI,asymmetric spinal atrophy in horizontal impaction and the degree of atrophy consistent with the symptoms of limbs.EMG could indicate bilateral spinal anterior impairment in lower cervical cord.Rare case may present the abnormal signal in the spinal cord,but pyramid signs were absent.

Analysis of onset age and cutaneous lesions in 54 patients with tuberous sclerosis / 中华皮肤科杂志

Objective To analyze the features of cutaneous lesions and age of onset of tuberous sclerosis(TS).Methods A total of 54 TS patients were recruited;their clinical data were analysed.Results The occurance of facial angiofibromas,periungual fibromas,hypomelanotic macules and shark macules was 72.5%,26%,70%and 48%,respectively,and the median age of onset of these lesions was 7,14,0.2 and 6 years,respectively,with a peak at 1-9,10-19,＜1 and 1-9 years,respectively.Conclusions Cutaneous lesions are commonly seen in TS,and most of them develop early in life.

The study on the early diagnosis and pathogenesis of non-traumatic rhabdomyolysis / 中国实用内科杂志

Objective To improve the recognition of early diagnosis and pathogenesis of non-traumatic rhabdomyolysis and prevent the occurrence of rhabdomyolysis.Methods Seven cases of non-traumatic rhabdomyolysis were collected,whose clinical data and related review were analyzed.Results The clinical features included weakness of limbs,myalgias,myoglobinuria,and an elevated serum creatine kinase.pathogenesis of non-traumatic rhabdomyolysis include drug in three cases,diabetic ketoacidosis in one case and metabolic myopathy in one case.Conclusion Multiple diseases can cause non-traumatic rhabdomyolysis.The early diagnosis and investigation of causes of non-traumatic rhabdomyolysis are important.

Early diagnosis and treatment of cerebral venous sinus thrombosis / 中华神经科杂志

Objective To investigate the clinical characteristics and treatment of cerebral venous sinus thrombosis(CVT) Methods Medical records, including age and the mode of onset, early symptoms, clinical presentations, findings of neuroimaging and cerebral spinal fluid (CSF), were analyzed retrospectively in 60 CVT patients (male 34 and female 26) Results CVT was most commonly seen in people of 20～40 years old, and the onset was acute in roughly 88% of cases. The first and most common symptoms included headache (87%) and vomit (61%), with or without focal deficits and/or seizures Neuroimaging fingdings showed 52% parenchymal focal infarction (with 39% hemorrhagic infarction or hematoma) and cerebral venous and sinus occlusions As for CSF examination,pressure increased remarkably,with WBC and protein normal or increased slightly (except for infection and cancer CVT). Dehydration, lumbar punctures, anticoagulation, local thrombolysis and etiologic treatment were utilized in the management of CVT, and better outcomes were achieved, with mortality rate of 10% Conclusions Headache, vomit with or without focal deficits and/or seizures as initial presentation should raise the suspicion of CVT, and its diagnosis can be further established by neuroimaging examination (combination of MRI and MRA). Early administration of heparin followed by oral anticoagulants for 3～6 months is recommended as first line treatment of CVT