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Objective:To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation, in order to improve the clinical doctors′ understanding of the disease. Methods:The clinical manifestations, auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected, and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease. Results:The proband was a 35-year-old male presenting with unsteady walk and dysarthria. Magnetic resonance imaging showed cerebellar atrophy. Next generation sequencing revealed compound heterozygous c.322dupG (p.Glu108Glyfs *4) and c.433A>C (p.Lys145Gln) variants in the STUB1 gene (according to the transcript NM_005861.4), and the c.322dupG (p.Glu108Glyfs *4) variant was a novel variant. Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents. A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients. The main clinical manifestations were ataxia, dysarthria and tendon hyperreflexia. Besides, nystagmus, spasticity, action tremors, and myoclonus can be present. Magnetic resonance imaging predominantly showed cerebellar atrophy. Conclusions:The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China. The main clinical manifestation is cerebellar ataxia, and brain imaging reveals remarkable cerebellar atrophy. Genetic testing is helpful for definite diagnosis.
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Objective:To report a case of X-linked myopathy with excessive autophagy (XMEA) and review the literature aiming to analyze the clinical manifestations, muscle imaging, muscle pathology and genetic characteristics of the disease.Methods:The medical history, physical and laboratory examination, muscle imaging and pathology, and genetics of a patient with XMEA who was admitted to QiLu Hospital of Shandong University in June 2018 were retrospectively collected. PubMed, CNKI, and Wanfang Data were searched for relevant literature.Results:This patient was a 40-year-old male who complained of hyper creatine kinase and weakness in his lower extremities for 4 years. Since elementary school, his heels could not touch the ground when squatting and his motor performance was inferior to his peers. Abnormal creatine kinase levels (320-1 167 U/L) were identified several times prior to admission. Magnetic resonance imaging of lower extremities revealed symmetrical fat replacement in bilateral lateral femoral muscles, adductor major and medial head of the gastrocnemius. Muscle biopsy showed intrafibrillar autophagic vacuoles with sarcolemmal features as well as membrane attack complex depositing on the vacuolar membrane; genetic analysis confirmed a hemizygous mutation c. *6A>G in VMA21 gene. Searching the literature, it was found that the onset age of XMEA patients varied from newborns to adulthood. Those XMEA patients with childhood or adulthood-onset mostly exhibited muscle weakness and (or) atrophy in the proximal limbs, with slow progression and normal life expectancy, while those with infant onset were prone to multiple system involvement, rapid disease progression, and high risk of death. Conclusions:XMEA is an extremely rare hereditary autophagic vacuolar myopathy. Although the clinical and prognostic manifestations of XMEA patients vary greatly among different age groups, the muscle pathological changes are relatively consistent, and genetic testing is the main diagnostic method for this disease.
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Muscular dystrophy is a group of progressive muscle diseases caused by inherited genetic mutations. Muscular weakness and atrophy are the most common presentations. Muscle biopsies show obvious muscular necrosis, regeneration and abnormal hyperplasia of fibrous connective tissues. In addition to the manifestations of the skeletal muscle, many patients also exhibit symptoms due to the involvement of brain, eye, heart, or endocrine organs. Brain involvement can manifest as neurological and cognitive abnormalities, such as intellectual disability, seizures, drowsiness, or autism spectrum disorders. Cranial imaging can be normal or shows gray matter atrophy and abnormal white matter signals. Clinicians should pay attention to the diagnoses and studies of brain abnormalities in patients with muscular dystrophies. The progression of the brain abnormalities should be explored, and effective intervention measures should be designed based on different ages. Since muscular dystrophies are rare diseases with a very low incidence, national collaboration with sophisticated neuromuscular centers is absolutely essential to support clinical care and basic research for such disorders. Basic research scientists should also seek techniques of modern molecular biology such as induced pluripotent stem cells-derived neuronal cells and multiple omics techniques to identify the pathological mechanisms, analyze the phenotypic characteristics, and prioritize candidate therapeutic targets.
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Objective:To investigate the clinical, pathological and genetic features of 3 cases of limb-girdle muscular dystrophy 2A (LGMD2A) caused by non-canonical splice site mutations in the CAPN3 gene. Methods:For the 3 LGMD2A patients admitted to Qilu Hospital of Shandong University from July 2016 to July 2018 were selected as the subjects. Clinical data were collected, whole exome sequencing was conducted, and the candidate variants were verified by Sanger sequencing. Total RNA was extracted from the skeletal muscle tissue of 3 probands and effects of splicing mutations on pre-mRNA splicing in the CAPN3 gene were verified by reverse-transcription polymerase chain reaction. Total protein was extracted from the muscle tissue of the probands and expression level of calpain 3 protein was detected by Western blotting. Results:All the 3 probands presented muscle weakness in upper and lower limbs, and muscle weakness in proximal limbs was more severe. Muscle biopsies all indicated myogenic impairment. Genetic sequencing showed proband 1 carried compound heterozygous c.2185-14T>G and c.2305C>T (p.R769W) mutations in the CAPN3 gene, proband 2 carried compound heterozygous c.1193+30G>A and c.2069_2070delAC (p.H690Rfs *9) mutations, and proband 3 carried homozygous c.1194-9A>G mutations in the CAPN3 gene. Splicing assay showed the c.2185-14T>G mutation located in intron 20 induced retention of the entire intron 20, the c.1193+30G>A mutation in intron 9 induced retention of the first 31 nucleotides of intron 9, and the c.1194-9A>G mutation in intron 9 induced retention of the last eight nucleotides of intron 9. Western blotting revealed deficiency of calpain 3 protein in skeletal muscle of proband 1 and proband 2. Conclusions:The clinical manifestation of LGMD2A is muscle weakness predominantly in proximal limbs, and the muscle pathology is mostly characterized by myogenic impairment.Moreover, aberrant splicing of pre-mRNA caused by non-canonical splice site mutations plays a pathogenic role in this disease.
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Objective:To analyze the clinical phenotypic characteristics, muscle pathology, genetic mutations and related proteins of myofibrillar myopathy 3 caused by mutation in MYOT gene, and to conduct a literature review and summary of this disease. Methods:A retrospective analysis of the clinical phenotypic characteristics, muscle pathology and genetic test results of a patient with myofibrillar myopathy 3 caused by mutation in MYOT gene diagnosed in Qilu Hospital of Shandong University in December 2018 was conducted. Whole exon sequencing was applied to conduct high-throughput screening of pathogenic genes in the patient. After finding candidate pathogenic mutation, Sanger sequencing was applied to verify the mutation sites in the patient and family members. Meanwhile, functional verification was carried out on the mutation sites found in MYOT gene, and the relevant literature was reviewed. Results:The patient was a 47-year-old woman with weakness in her lower limbs for 8 years. Electromyography showed myogenic changes. The muscle pathology suggested that there was deposition of abnormal substances and rimmed vacuoles within some muscle fibers. Gene testing showed that the patient was a carrier of the MYOT gene c.170C>T (p.Thr57Ile) heterozygous mutation, and her son and daughter also carried the same mutation at the same site. The son of the patient had an elevated creatine kinase level and spontaneous potential was occasionally observed on electromyography, while the daughter had no abnormalities. Two younger brothers did not carry the mutation. Protein functional studies suggested that the mutation of MYOT gene c.170C>T mutation can lead to the change of partial spatial structure of myotilin, and the abnormal aggregation of p62 protein and myotilin was involved in the pathogenesis of the disease. Literature review revealed that c.170C>T (p.Thr57Ile) mutation has only been reported in foreign populations. This is the first detailed report on the clinical phenotype, muscle pathology and gene function of MYOT-related myofibrillar myopathy type 3 in China. Conclusions:The clinical manifestations of myofibrillar myopathy type 3 caused by MYOT gene mutation are heterogeneous, mainly manifested as muscle weakness in the distal or proximal extremities. Muscle pathology reveals abnormal protein deposits and rimmed vacuoles within some muscle fibers. Accurate diagnosis of the disease depends on gene detection. The co-localization of p62 protein and myotilin protein provides a new idea for the diagnosis and molecular mechanism research of the disease.
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Objective:To investigate the clinical characteristics and outcome of patients with voltage-gated potassium channel complex (VGKCc) antibody associated clinical syndromes complicated with myasthenia gravis (MG) with thymoma.Methods:The clinical history, examinations and follow-up prognosis of 2 cases of VGKCc antibodies associated clinical syndromes with MG complicated with thymoma in Qilu Hospital (Qingdao), Cheeloo College of Medicine,Shandong University in September 2020 and December 2020 were reviewed. Related literatures were summarized at the same time.Results:Case 1, a 64-year-old female clinically presented with cognitive impairment, psychosis, and epilepsy seizures, whose serum autoimmune antibody testing showed positive leucine-rich glioma-inhibited 1 (LGI1) antibody, was diagnosed as anti-LGI1 encephalitis,and had history of MG with thymoma. Her symptoms were improved by immunotherapy. Case 2, a 67-year-old male, was diagnosed as MG, and developed cognitive impairment, myokymia and autonomic dysfunction later. His serum autoimmune antibody testing showed positive contactin associated protein-like 2 antibody. Therefore, Morvan syndrome complicated with MG with thymoma was definitely diagnosed. After admission, the patient was improved with immunotherapy and thymoma resection.Conclusions:Patients with VGKCc antibody-associated clinical syndromes complicated with MG have the clinical characteristics of the two diseases simultaneously, and there is also crossover. Immunotherapy and treatment for thymoma are generally effective.
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Vasculitic neuropathies occur when inflammatory cells infiltrate the vessels of peripheral nerves. Patients with vasculitic neuropathies typically present with multiple mononeuropathies (also known as multifocal neuropathy), characterized by the acute-to-subacute onset of painful sensory and motor deficits. Vasculitic neuropathies could develop in the setting of systemic vasculitis. It also could present as a non-systemic vasculitis without other organs involvement. Peripheral nerve biopsy has an important role in the diagnosis of vasculitic neuropathies. In this review, the classification, clinical and electrophysiological manifestations, diagnosis, treatment, and prognosis of vasculitic neuropathies are summarized, with a focus on recent progresses in these areas.
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Objective:To study the clinical characteristics of orobuccal involuntary movements (OB) induced by anticholinergic agents.Methods:The clinical characteristics of patients with OB induced by anticholinergic agents in Qilu Hospital (Qingdao) from April 2018 to October 2021 and cases reported in the literature were analyzed in combination with literature review.Results:Seven patients in Qilu Hospital (Qingdao) and 10 cases in the literature were analyzed. Of these 7 patients, 6 were elderly female, with involuntary, repetitive, stereotypical movements of the lips, tongue, and sometimes of the jaw after intake of anticholinergic medication with the latency 21-60 days and the involuntary movements improved 7-30 days after discontinuation of anticholinergic medication. Of 10 cases reported in the literature, 7 were elderly female and 8 only with OB and 2 patients had extremities dyskinesia plus OB. Involuntary movements appeared after latency of 3-93 days following the introduction of anticholinergic drugs and resolved after latency of 2-60 days following their withdrawal.Conclusions:OB induced by anticholinergic agents mostly occur sub-acutely during the treatment of Parkinson′s disease, and can resolve in a short time after withdrawal, which is independent of the dose of levodopa and anticholinergic agents. The aging, female, and anxiety and depression may be the risk factors.
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Objective:To investigate the clinical, muscle biopsy and gene mutation characteristics of nemaline myopathy caused by the NEB gene variants.Methods:A retrospective analysis of the clinical manifestations, auxiliary examinations, muscle biopsies and genetic analysis of 3 nemaline myopathy patients carrying NEB gene mutations diagnosed in the Neuromuscular Pathology Laboratory of Qilu Hospital of Shandong University during 2019-2021 was done. And the related literature was reviewed.Results:All of the 3 patients were congenital onset. The onset symptoms of the 3 patients were weakness of bilateral lower limbs. Physical examinations showed high palatine arches and long narrow faces. Electromyography showed myogenic impairment. Muscle biopsies of the 3 patients revealed myodystrophic changes and nemaline bodies. The ATPase staining of patient 1 showed the predominance and grouping of type 1 muscle fibers. Genetic tests revealed patient 1 carried c.21522+3A>G and c.3471dupC (p.N1158Qfs *5) mutations in the NEB gene, patient 2 carried c.21522+3A>G and c.18991_18992delAG (p.Q6332Afs *8) compound heterozygous mutations and patient 3 carried c.21522+3A>G and c.3448A>T (p.K1150 *) compound heterozygous mutations. All the 3 patients carried the c.21522+3A>G mutation in the NEB gene, which had only been reported in Chinese population. The c.3471dupC (p.N1158Qfs *5), c.18991_18992delAG (p.Q6332Afs *8) and c.3448A>T (p.K1150 *) mutations have not been reported yet. According to American College of Medical Genetics and Genomics guideline, c.21522+3A>G, c.3471dupC (p.N1158Qfs *5), c.3448A>T (p.K1150 *) and c.18991_18992delAG (p.Q6332Afs *8) mutations were all rated pathogenic. Conclusions:The onset age and clinical symptoms of nemaline myopathy are heterogeneous. Muscle biopsy and genetic analysis are important for diagnosis of nemaline myopathy. The c.21522+3A>G mutation in the NEB gene may be more common in Chinese population.
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With the advances in molecular genetic techniques, especially next-generation sequencing technologies, genetic testing is now a widely applied procedure in diagnosing hereditary muscle diseases. However, there remain many challenges to assessing the pathogenicity of genetic variants, understanding disease pathogenesis, and developing therapeutic strategies in hereditary muscle diseases. The zebrafish model system is a powerful tool to address these issues, thanks to conserved vertebrate genetics, the ease of genetic manipulation, and various assessment approaches for muscle function. Given the limited use of zebrafish model organisms on muscle disease research in China, this article mainly focuses on the advantages, applications, and limitations of zebrafish as a model of hereditary muscle disease.
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Objective:To investigate the clinicopathological features and imaging differential diagnosis of intravascular large B-cell lymphoma (IVLBCL) in the central nervous system (CNS).Methods:A case of CNS IVLBCL with multiple intracerebral microbleeds (CMBs) diagnosed in the Department of Neurology, Qilu Hospital of Shandong University in 2017 was reported. The clinical and imaging data, histological and immunohistochemical markers were retrospectively analyzed, and the relevant literature was reviewed.Results:The patient was a 31-year-old woman presented with headache and seizures. Cranial magnetic resonance imaging (MRI) showed multifocal lesions involving mainly the cortical and subcortical white matter (bilateral cerebral hemisphere and right cerebellar hemisphere), hyperintense signal on T 2-weighted and fluid-attenuated inversion recovery images, with hypointense signal on T 1-weigthed and diffusion-weighted images and contrast enhancement in some lesions. The susceptibility weighted imaging revealed multifocal cortical or subcortical hypointense lesions, involving mainly the subcortical white matter. Brain magnetic resonance angiography was normal. Brain magnetic resonance venography showed left side transverse sinus was hypoplastic. Cranial magnetic resonance spectroscopy showed decreased N-acetylaspartylglutamate peak, elevated choline peak and inverted lipid double peak. Her symptoms and the lesions once improved after starting steroid treatment. However, CNS recurrence occurred after 1 week of steroid withdrawal. She underwent the biopsy of the right frontotemporal lobe. The pathological examination showed multiple microscopic hemorrhages and edema scattered in the brain tissue. A large number of heterologous mononuclear cells were aggregated in small blood vessels in the parenchyma and meninges. Immunohistochemical analysis revealed that the tumor was negative for Epstein-Barr virus encoded small RNAs, CD 3, CD 10, cytokeratin and CD 138, and positive for CD 20, CD 79α, B-cell lymphoma (BCL)-2, BCL-6, myelocytomatosis oncogene (C-myc) and multiple myeloma oncogene-1 (MUM-1). The Ki67 proliferation index was about 70%. The diagnosis of IVLBCL was confirmed. Conclusions:IVLBCL in CNS is a rare and swiftly progressive disease with poor prognosis. Its clinical symptoms and imaging are nonspecific. Early diagnosis and treatment is critical. Biopsy is the gold standard for diagnosis. Random skin biopsy may be helpful for the early diagnosis. Furthermore, regarding the cause of multiple CMBs, the possibility of IVLBCL should be considered in the differential diagnosis, in addition to the common causes, such as primary angiitis of the CNS and cerebral amyloid angiopathy.
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Objective:To study the characteristics of clinical, laboratory, imaging, genetic and differential diagnosis of McLeod syndrome.Methods:The clinical characteristics of 2 cases of McLeod syndrome confirmed by gene detection in Qilu Hospital (Qingdao) on June 27, 2018 and in Qilu Hospital of Shandong University on September 11, 2019 were analyzed retrospectively. And the characteristics of patients of McLeod syndrome reported in China were analyzed in combination with literature review.Results:Both of the 2 patients were adult male, aged 57 and 61 years, respectively, with a slowly progressive course, beginning with gradually involuntary movement of trunk and extremities, involving involuntary biting of the tongue and dysphagia. Two patients had mild cognitive impairment; one patient had emotional agitation. Imaging study showed atrophy of caput nuclei caudate. Neuroelectrophysiological examination of case 1 showed sensory axon neuropathy in both upper limbs with severe damage to the left ulnar nerve. Creatine kinase (CK) was mildly elevated in 2 patients. The peripheral blood smear of 1 patient showed increased acanthocytes, accounting for 13%, the other patient showed no increased acanthocyte. McLeod syndrome related gene was tested in the 2 patients, case 1 with deletion mutation of exon 2 of XK gene, and case 2 with hemizygotic mutation of XK gene c.898delC p.L300 *. Conclusions:The clinical manifestations of McLeod syndrome are various and the differential diagnosis is crucial. For elderly male with cephalic facial chorea, elevated CK level and neuromuscular diseases, the possibility of McLeod syndrome should be screened.
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Congenital Myasthenic syndrome (CMS) is a group of partially treatable genetic disorders characterized by dysfunction of neuromuscular junction signaling.With the popularization of high-throughput sequencing and in-depth understanding of the disease in recent years, more than thirty pathogenic genes have been discovered and there is a correlation between genotype and clinical phenotype.Misdiagnosis and missed diagnosis are common in clinical practice. This paper summarized the molecular mechanisms, clinical features, electrophysiologic, pathological features and treatment of main subtypes of CMS to deepen the understanding of the disease.
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Objective:To analyze the clinical features, imaging findings and gene test of patients with type Ⅱ Alexander disease.Methods:All the clinical data of three cases with type Ⅱ Alexander disease from August 2018 to June 2020 in the Department of Neurology, Qilu Hospital of Shandong University (Qingdao) and Qilu Hospital of Shandong University were collected, and their clinical and imaging findings were analyzed retrospectively.Results:All the three patients were middle aged and old men with a chronic progressive course, beginning with weakness of one or both lower limbs, followed by dizziness, dysarthria, dysphagia, sphincteral disturbances, constipation and orthostatic hypotension. Three patients all experienced misdiagnosis (hydrarthrosis, cerebral vascular disease, alcoholism, respectively) at early stage of the disease. Cranial magnetic resonance imaging (MRI) showed mild supratentorial periventricular leukodystrophy, which was not specific. Sagittal cranial MRI demonstrated medulla oblongata and upper cervical cord atrophy called “tadpole atrophy”, which had high suggestive value. The results of gene analysis showed heterozygous mutation of glial fibrillary acidic protein gene, which had been reported as pathogenic gene; c.1091C>T (p.A364V) in exon 6, c.722C>T (p.R258C) in exon 4 and c.197G>A (p.R66Q) in exon 1, respectively.Conclusions:Type Ⅱ Alexander disease is an autosomal dominant disease, most with point mutations, rarely with deletion mutations. Type Ⅱ Alexander disease should be suspected when a patient had signs of lower brainstem involvement such as dizziness, ataxia, pyramidal sign, autonomic dysfunction, especially when cranial MRI showed mild supratentorial leukodystrophy, and medulla oblongata and upper cervical cord atrophy.
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Objective:To summarize the clinical, pathological and molecular biological characteristics of one patient of paranodal disease with anti-contactin-associated protein 1 (Caspr 1) antibodies.Methods:The patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) admitted to Qilu Hospital of Shandong University from August 2018 to December 2020 were retrospectively studied. The clinical data of one acute onset CIDP patient with anti-Caspr 1 antibodies were collected and retrospectively analyzed with literature review. Anti-nodal/paranodal IgG and their subclasses in serum and cerebrospinal fluid (CSF) were investigated by immuno?uorescence assays. Pathological characteristics were explored by sural nerve biopsy further.Results:The patient presented with tremor, ataxia and neuropathological pain besides symmetrical limb muscle weakness and hypaesthesia. The CSF protein was elevated significantly. The brachial plexus and lumbosacral plexus magnetic resonance imaging showed enlarged nerve roots. The patient was responsive well to intravenous immunoglobulin and steroids in acute phase, while the symptoms improved significantly with rituximab in chronic phase. Autoantibodies against Caspr 1 were detectable in serum and CSF, with IgG4 predominant. Sural nerve biopsy revealed segmental demyelination and myelin digestion chamber. Dispersed lamellae of myelin sheath and axonal degeneration were confirmed by electron microscopy.Conclusions:Tremor, ataxia, neuropathic pain, significantly elevated CSF protein and enlarged nerve roots are suggestive of paranodal diseases with anti-Caspr 1 antibodies. For patients with suspected Guillain-Barre syndrome/CIDP and above phenotypes, nodal/paranodal antibodies and antibody subtypes should be detected to optimize the treatment.
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Inborn errors of metabolism (IEMs) are defined as genetically enzymatic deficiencies or defects in polypeptide or protein involved in cellular metabolism,which include nearly a thousand kinds of genetic-definite disease entities up to now and could develop symptoms and signs at any age,and those whose onset-age is more than 1 years old are named as late-onset IEMs.More than 80％ of IEMs could involve the nervous system,also called IEMs of the nervous system,and most of the late-onset IEM patients will go to the Deparment of Neurology firstly.The treatment aim of IEMs is to correct the metabolic deficiency.The main therapeutic strategies include substrate-limitted intake,enzyme replacement therapy,clearance of the toxic metabolites,cofactor supplement,gene therapy and sympatomatic and support treatment.Many kinds of late-onset IEMs of the nervous system are treatable,and could be healthy living if treated early and correctly.Therefore,it is important to strengthen the understanding of neurologists on the late IEMs of the nervous system,which should not be ignored.
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Lipid storage myopathy (LSM) is an etiologically heterogeneous group of lipid metabolic disorders characterized by accumulation of light microscopic lipid droplets in muscle fibers.This disease seems to be more common in Chinese population accounting for 3％-5％ of total muscle biopsies in several large neuromuscular centers in China.The pathogenesis of LSM is the impairment of fatty acid oxidation in muscle fibers.Late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) caused by electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation has been demonstrated to be the main molecular defect in China.Three frequent ETFDH mutations were identified:c.250G＞A in patients from South China,and c.770A＞G and c.1227A＞C in those from both South and North China.More importantly,almost all late-onset MADD are dramatically responsive to riboflavin supplementation.Neutral lipid storage disease with myopathy (NLSDM) caused by mutations in PNPLA2 gene is the second common cause of Chinese LSM.Distal muscle involvement and asymmetrical muscle weakness and atrophy are common in primary symptoms of NLSDM which may be the first clue indicating the diagnosis of NLSDM.There were also a few case reports showing that LSM may be caused by carnitine transport defect and other deficiencies of acyl-coenzyme A dehydrogenase involved in fatty acid beta oxidation.Increased lipid droplets accumulation in muscle fibers may also be a secondary consequence of mitochondrial myopathy (mtDNA depletion syndrome or MELAS),dermatomyositis and steroid treatment.
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The 18th Congress of Chinese Cerebrovascular Diseases was held at Qingdao in April 2018.The congress included three plenary meetings and 20 special academic conferences.Famous international and domestic scholars and researchers specialized in cerebrovascular diseases attended the congress.These experts gave brilliant reports about the development and clinical focus on cerebrovascular diseases,such as frontier and guidelines,interventional therapy,small vessel disease and cognitive disorder,collateral circulation and hemodynamic regulation,cerebral venous disease and cerebral hemorrhage,prophylaxis and treatment,immune inflammation research and translational medicine,acute treatment and intensive care,rehabilitation and nursing of cerebrovascular diseases,etc.The congress held "expert face to face" case discussion.The congress lasted for three days,and appealed thousands of clinical doctors,researchers and nurses,with strong academic atmosphere and splendid venue.Excellent theses and posters were selected on the closing ceremony,and the next conference's hosting place was determined.
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Objective To explore the clinical characteristics of late-onset ornithine carbamoyltransferase deficiency (OTCD) in order to improve the clinicians' understanding of this disease.Methods The clinical,therapeutic and follow-up data of two patients with late-onset OTCD diagnosed in the Department of Neurology,Qilu Hospital of Shandong University from November 2017 to February 2018 were collected and analyzed.Results Case 1 is a 17-year-old male who was admitted into Qilu Hospital with recurrent dizziness and vomiting for 4 months,sudden mental abnormality and convulsion for 3 days.The liver dysfunction,respiratory alkalosis and hyperammonemia (434 μmol/L) had been found before his admission.His blood ammonia fluctuated obviously from 180 μ mol/L to 2998 μmol/L,though he was given hemodialysis and arginine infusion,and died on the fourth day after admission.Case 2 is a 15-year-old male,complained with recurrent dizziness,vomiting,bluntness and somnolence for 20 days.He was found with hyperammonemia (600 μmol/L) and liver dsyfunction in a local hospital.He was getting better after intravenous administration of arginine and liver protective drugs.After admission,the blood ammonia,liver function and amino acids,acylcarnitine profiling in dried blood spots,and organic acid analysis in urine were normal,and he has not recurred since restriction of protein diet.Brain magnetic resonane imaging of both patients showed cytotoxic edema of bilateral frontal lobe and insular cortex,and their genetic detection both showed c.119G＞A(p.R40H) hemizygous pathogenic mutation of OTC gene inherited from their respective mothers.Conclusion Unexplained hyperammonemia and acute encephalopathy with insular and frontal cortical involvement should be on the alert to the urea cycle disorders,especially OTCD.Early diagnosis and reasonable treatment are the key to changing the prognosis.
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Objective To describe the features of clinical,imaging and cerebral spinal fluid (CSF) of listerial rhombencephalitis to improve the understanding of this disease in clinical practice.Methods All the clinical data of three cases of listerial rhombencephalitis from April to August 2017 in Qilu Hospital were collected and analyzed retrospectively.Results All the three cases were healthy adult women before,with a rapidly progressive course,beginning with fever (38.2-40 ℃),headache accompanied by nausea and vomiting,followed by cranial paralysis,dysphagia and paralysis of the limbs on the 2nd to 5th day of onset,and developed to acute respiratory failure and unconsciousness on the 5th to 8th day of onset.All the three patients were diagnosed with CSF culture positive for Listera monocytogenes on the 3rd to 5th day after admission.The initial CSF lactic acid increased significantly,representing 12.3,12.0 and 10.0 mmol/L respectively;CSF white blood cells were 416× 106/L,760× 106/L and 793× 106/L,respectively,and the protein levels were 0.76 g/L,0.57 g/L and 1.47 g/L,respectively.Brain images showed brain stem was involved in all the three patients,therein cases 1 and 3 with cerebellar hemisphere involved,case 2 with upper cervical spinal cord involved,and case 1 with supratentorial hydrocephalus involved.After treatment with sensitive antibiotics,case 1 recovered,case 2 died,and case 3 lived with dysphagia.Conclusions Listerial rhombencephalitis should be suspected when a patient started with fever and headache,rapidly progressed to cranial nerve paralysis,brainstem symptoms,and acute respiratory failure,especially when the brain imaging suggested brainstem involved with increased white blood cells and apparently elevated lactic acid level of CSF.The earlier the sensitive antibiotics initiated,the better the patients' prognosis.