2015年 · 第48卷第03期

refractory status epileptics (RSE) refer to sufficient doses of initial anti-epileptic drugs (AEDs), such as benzodiazepineContinuous seizures and/or EEG continuous epileptic discharges that are unable to be terminated after another AEDs^[1,2]。 In China, RSE is a life-threatening critical disease, whether in neurology, neurosurgery, emergency department or critical care medicine department. Data show that 1/3~1/2 of status epileptics (SE) will develop into RSE^[3,4]About 2/5 of RSE patients eventually died^[5], even if they survive, there are severe neurological deficits, such as refractory epilepsy or cognitive impairment^[1,6]。 Therefore, how to start the treatment for SE as early as possible and how to prevent the occurrence of RSE becomes the key to improve its prognosis or outcome. This article expresses some opinions and opinions on this.

The rapid development of medicine has brought about changes in clinical diagnosis and treatment. Medical journals gather the research results and work experience of medical workers, and play a key role in spreading new theories, new technologies and new discoveries. With the advent of the information age, doctors have become accustomed to using the Internet to quickly retrieve medical journals, follow up the progress of diagnosis and treatment, draw on other people's experience for their own use, and serve patients with the latest technology. It is obvious that clinicians are both publishers and beneficiaries of these research results.

Cingulate epilepsy refers to a clinical electrophysiological syndrome in which the seizure originates in the cingulate gyrus. For a long time, due to anatomical location, it is difficult for scalp electrodes to directly record epileptic discharges in cingulate gyrus lesions, while on the other hand, as an integral part of the limbic system loop, cingulate gyrus has complex anatomical connections and functional characteristics. Therefore, the observation and reports of clinical symptoms of patients with cingulate gyrus epilepsy are scarce, and their clinical and electrophysiological understanding need to be deepened urgently. We report a case of cingulate gyrus epilepsy presented by excessive exercise and review the relevant literature in order to improve the understanding of its clinical symptomatology and electroencephalographic features.

neutral lipid storage disease (NLSD) is an autosomal recessive genetic disease caused by mutations in GCI-58 or PNPLA2 genes, which ultimately leads to intracytoplasmic triglyceride deposition in various tissue cells. Among them, GCI-58 gene mutation causes neutral lipid storage disease with ichthyosis (NLSDI), or Chanarin-Doffman syndrome, which is mainly characterized by congenital ichthyosis and multiple organ damage onset in childhood, including hepatomegaly, microcephaly, mental retardation, hearing loss, cataract and mild myopathy^[1]。 PNPLA2 gene mutation causes neutral lipid storage disease with myopathy (NLSDM), which mainly involves skeletal muscle and myocardium, without ichthyosis or other skin lesions. It mostly starts at the age of 20 to 30 years. Clinically, asymmetric proximal limb muscle involvement is the main, and the distal limb can often be involved in the later stage^[2]Slow progression, increased serum creatine kinase (usually>5 times normal high), often with cardiac involvement. We report 3 cases of NLSDM with asymmetric limb muscle weakness as the main manifestation, and further elaborate and summarize their clinical, imaging, muscle pathology and molecular screening results.

cerebroretinal microangiopathy with calcifications and cysts (CRMCC) includes Coats plus syndrome and leukoencephalopathy with calcifications and cysts (LCC). The typical characteristics of this type of disease are extensive intracranial calcifications, multiple giant cystic changes and white matter lesions at the same time or successively. This type of disease is rare, the disease manifestation involves multiple systems, and the etiology is currently unknown.

acute hemorrhagic leukoencephalitis (AHLE) is an acute-onset inflammatory disease of the central nervous system with obvious prodromal symptoms, rapid onset, rapid progression and poor prognosis. We reported a patient with AHLE diagnosed and reviewed and summarized the relevant literature in order to improve the understanding of this disease among clinicians.

The typical clinical manifestation of aortic dissection is acute thoracic and back pain^[1]However, aortic dissection may have other symptoms such as neurological symptoms, renal failure and muscle necrosis. Neurological symptoms may be transient cerebral ischemia, spinal cord ischemia, etc^[1]。 A patient with thoracoabdominal aortic dissection presenting with acute myelitis, renal failure and muscle necrosis is now reported below.

Frequent seizures and antiepileptic drugs affect cognitive function in patients to varying degrees^[1]The cognitive and behavioral adverse reactions of antiepileptic drugs not only affect patients' daily life, but also have a great correlation with the retention rate of drugs^[2]。 Epilepsy treatment should not only control seizures, but also pay attention to monitoring and preserving the cognitive function of patients and improving the quality of life of patients. Routine cognitive monitoring of patients with epilepsy is particularly important for epilepsy treatment^[3]。 How to monitor the cognitive function of patients with epilepsy and what kind of cognitive measurement tool to choose, that is, it can objectively and sensitively evaluate the changes of cognitive function of patients after antiepileptic drug treatment, and the clinical operation is simple and easy, which is the focus of clinicians and researchers. We reviewed the research progress of epilepsy-related cognitive impairment and screening scales in combination with relevant literature.

Epilepsy and anti-epileptic drugs have complex effects on male reproduction. Male patients with epilepsy are prone to reproductive endocrine disorders, sexual function and fertility disorders, and these effects may be related to epilepsy itself or the use of antiepileptic drugs. It has long been known that epilepsy itself and the use of traditional antiepileptic drugs can lead to reproductive dysfunction in men with epilepsy^[1]。 However, the related research of new antiepileptic drugs lags behind. We mainly review the effects of anti-epileptic drugs, especially new anti-epileptic drugs, on reproductive endocrine, sexual function and fertility of male patients with epilepsy.

perivascular spaces (PVS) were developed by German pathologist R. Virchow and French biologist and histologist C. Proposed by P. Robin more than a century ago and later named the Virchow – Robin gap. PVS can be seen at any age and increase in size and quantity with age^[1]。 With the development of imaging technology, enlarged perivascular spaces (EPVS) can be found on conventional magnetic resonance sequences. It has been considered as a normal physiological change because it rarely causes brain tissue damage. However, in recent years, more and more evidences show that EPVS are related to cerebral hemorrhage^[2]Lacunar infarction^[3]and multiple sclerosis^[4]And other diseases. EPVS are common in stroke patients, and we will review their studies related to stroke.

The traditional view believes that amyotrophic lateral sclerosis (ALS) is a chronic progressive neurological degenerative disease that only involves the motor system. However, more and more studies have shown in recent years that ALS is a degenerative disease that mainly involves the motor system and involves multiple systems at the same time. About 10% of them are familial, called familial ALS (fALS), and the rest are sporadic ALS (sALS)^[1]。 About 50% of ALS patients can have cognitive and behavioral changes, and the extent of frontotemporal lobar degeneration (FTLD) accounts for 10% to 15%^[2]。 Recent studies on cognitive and behavioral changes in patients with ALS in clinical characteristics, neuropsychological scales, genophenotypes, neuropathology and neuroimaging are briefly reviewed.

Parkinson's disease is a common neurodegenerative disease whose etiology is not fully understood. In recent years, more and more studies have confirmed that genetic factors play an important role in its pathogenesis. An increasing number of gene mutants involved in the pathogenesis of Parkinson's disease have been identified, and mutations in some genes have been shown to cause familial Parkinson's disease. Following the discovery of the first Parkinson's disease-related gene [α-synuclein (SNCA), that is, PARK1] by Polymeropoulos et al., the researchers named a total of 18 genes, and identified PARK1~15 and PARK16~18 through linkage analysis and genome-wide association studies. Among the above genes, SNCA, leucine-rich repeat kinase 2 (LRRK2), parkin, PINK1, ATP13A2 and DJ1 genes can cause familial Parkinson's disease. SNCA, LRRK2, microtubule-associated protein tau (MAPT) and glucocerebrosidase (GBA) are risk factors for Parkinson's disease^[1]。 We summarize the main clinical research advances in the genetics of Parkinson's disease in recent years as follows.

In 1968, American doctor Kennedy et al.^[1]A sex-linked genetic disease is reported, which is mainly characterized by atrophy and weakness of proximal limb and tongue muscles. This disease is known as X – linked spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease. More patients with Kennedy's disease than middle-aged onset, Atsuta et al.^[2]Among the 223 patients followed up, the mean age of limb weakness was 44 years; The mean age of dysarthria was 50 years; The average age of choking and coughing after drinking water is 54 years old; The average age for walking on crutches is 59; The average age of requiring a wheelchair is 61; The mean age of the 15 patients who died was 65 years, and the main causes of death were pulmonary infection and respiratory failure. It can be seen that although Kennedy's disease progresses slowly, it will lead to a serious decline in the quality of life of patients during the development of the disease, and ultimately threaten the lives of patients. According to the etiology and pathogenesis of Kennedy disease, it is a hot topic of many scientists in recent years to find effective treatment methods that can delay or prevent the progression of Kennedy disease. This paper briefly introduces published clinical studies on the treatment of Kennedy's disease.

Parkinson's disease (Parkinson's disease) is a common neurodegenerative disease, which is a common and frequently occurring disease in middle-aged and elderly people. In China, the incidence of Parkinson's disease is as high as 2 million, and the incidence rate is similar to that of developed countries, which has become an important factor restricting people's health and quality of life. The main cause of Parkinson's disease is the progressive loss of dopaminergic neurons in the substantia nigra of the midbrain, which leads to the decrease and deficiency of dopamine neurotransmitters, mainly manifested as quiescent tremor, rigidity, bradykinesia, abnormal posture and gait, and related non-motor symptoms, such as depression, anxiety, sleep disorders, memory loss, autonomic nervous symptoms, etc. At present, the treatment mode of Parkinson's disease is mainly drug therapy, and the most important one is dopamine replacement therapy. However, due to the adverse reactions of drugs and the limitation of drug control symptoms, the application of drugs is limited. deep brain stimulation (DBS) has also been gradually applied in clinical practice. To a certain extent, DBS can improve the motor function and the fluctuation of motor symptoms of patients with Parkinson's disease, improve the quality of life, reduce the therapeutic dose of drugs and its adverse reactions, and more importantly, it can improve the survival rate of patients with Parkinson's disease^[1]However, its mechanism is not very clear. In recent years, the proposal and development of an emerging technology-optogenetics, that is, gene light stimulation, not only provides us with new hope for targeted treatment of Parkinson's disease, but also provides us with a new way to further study DBS.

The 24th International Symposium on Amyotrophic Lateral Sclerosis-Motor Neurone Disease (ALS-MND) was held in Milan, Italy at the end of November 2013. More than 900 delegates participated in the symposium, divided into 18 themes and 22 modules, and discussed various aspects of ALS-MND. We will briefly introduce some of the contents of the meeting.