2017年 · 第50卷第04期

Epilepsy is the second most common disease of the nervous system, which plagues the physical and mental health of people of all ages. It is listed as one of the five major neuropsychiatric diseases in the world by the World Health Organization. The pathogenesis of epilepsy is very complex, and it is generally believed that genetic factors play a major role in it. In recent decades, many factors related to epilepsy have been found from genomics, epigenomics and transcriptomics, but they are still insufficient to comprehensively explain the pathogenesis of epilepsy. The use of single omics data to study epilepsy has obvious limitations, but the integration and analysis of high-throughput omics data at multiple levels has become an important development direction of precision medicine research in the future. Multi-omics research will provide new ideas for the study of epilepsy occurrence and development, and provide new theoretical basis for early diagnosis and individualized treatment of epilepsy.

Epilepsy is a neurological disease caused by abnormal firing of neurons in the brain. There are about 50 million epileptic patients worldwide. In developed countries, the annual incidence of primary epilepsy diagnosed for the first time in the whole population is (20-70) /100,000. The incidence of epilepsy in developing countries is 2-3 times that in developed countries. According to the data of large-scale population survey in China, the annual incidence rate of epilepsy is 25/100,000 and 35/100,000 in rural and urban areas, respectively, which is at the middle level. The prevalence of epilepsy in China is 0.9‰ ~4.8‰, which is at a relatively low level in developing countries. More than 80% of epilepsy patients live in developing countries, and there are about 9 million epilepsy patients in our country, many of whom are not properly treated, with a treatment gap of 63%^[1]。 Patients receiving treatment are also under financial pressure. Studies show that in 2015, the average annual drug treatment cost of outpatient epilepsy patients was more than 4,300 yuan, accounting for about 25% of the average family income, and the vast majority of outpatient expenses have not been included in medical insurance.

A 52-year-old female, Han nationality, was seen in our hospital on April 22, 2015 due to "progressive limb weakness for 4 years and chest tightness after activity for 2 years". Four years ago, the patient had abnormal walking posture without obvious trigger, showing the shape of "external eight characters", and felt weakness in his right lower limb, but he could still go up and down the stairs independently. Three years ago, I had weakness in both lower limbs, and I needed to rest after walking on a flat road for 20~30 minutes. After rest, it improved slightly, and it was difficult to squat and go up and down the stairs. Two years and three months ago, it was difficult to lift both upper limbs, and it was laborious to comb my hair, but the movements of picking vegetables and grabbing objects were normal. Two years ago, limb weakness was further aggravated, and at the same time, chest tightness, palpitation and precordial discomfort after activity occurred intermittently, lasting for several minutes to tens of minutes, which could be relieved by itself without precordial pain, so I went to the cardiovascular department. The electrocardiogram examination was normal, creatine kinase and creatine kinase isoenzyme were all elevated, and muscle atrophy of the right lower limb was found by neurological examination. Since the onset of the disease, the patient's limb weakness is not light in the morning or heavy in the evening, there is no limb numbness, flesh jumping and muscle pain, and there is no choking and cough after drinking water, dysphagia, etc. He had suffered from hypertension for 4 years in the past. At this visit, he found that his fasting blood glucose was elevated. He denied the history of taking statins and glucocorticoids, had no history of rheumatism and rheumatoid disease, had no history of exposure to toxic substances, and had no history of smoking and drinking. There are no special records in the family history.

Primary Sjogren's syndrome (primary Sjogren's syndrome, pSS)^[1]It is a chronic autoimmune disease, which is mainly caused by local lymphocyte and giant cell infiltration of exocrine glands such as salivary glands and lacrimal glands. Clinically, in addition to the damage of exocrine glands, it can also involve various systems in the whole body including the central nervous system. Steroid-responsive chronic lymphocytic inflammation with pontic perivascular enhancement (chronic lymphneytic infamation with pontine perivaseular enhancement responsive to steroids, CLIPPERS) Namely, CLIPPERS syndrome, produced by Pittock et al.^[2]It was first reported in 2010, and the related reports at home and abroad have increased successively since then^[3]However, pSS complicated with CLIPPERS syndrome has not been reported. The clinical data of a patient with pSS complicated with CLIPPERS syndrome admitted to our department are reported below for clinical reference.

Systemic amyloidosis is a kind of disease in which amyloid substances with beta lamellar structure are deposited in tissues and organs in the body and cause the involvement of multiple organ systems. It most often involves the heart, liver and kidney, and can also be seen in the digestive tract, tongue, parotid gland and peripheral nerves. Skeletal muscle involvement is rare. The clinical and musculopathological characteristics of a patient with amyloid neuromyopathy with muscle damage as the first manifestation admitted to our hospital are reported as follows, in order to increase the understanding of this disease by neurologists and pathologists.

Fahr's disease, also known as idiopathic basal ganglia calcification or familial idiopathic basal ganglia calcification, is a neurodegenerative disease characterized by diffuse intracranial calcification deposits involving bilateral basal ganglia regions, the dentate nucleus of the cerebellum and the extinction of related cells^[1]Common clinical manifestations include extrapyramidal symptoms, cerebellar dysfunction, language disorders, dementia, epilepsy and neuropsychiatric symptoms, etc., and may also be asymptomatic for life. Pontine calcification associated with Fhar disease is rare in clinical practice and has not been reported with pontic crucifixion. We now report a case of Fahr's disease with pontic calcification and pontic cruciform sign on imaging.

Sarcoidosis is a multisystem granulomatous disease of unknown etiology, which can involve one system alone or multiple systems simultaneously, with the highest incidence of the lung and intrathoracic lymphatic system, and less common involvement of the nervous system. Less than 5% of sarcoidosis patients invade the nervous system^[1]The manifestation of nervous system damage is called neurosarcoidosis (NS). NS often exists at the same time as other systemic sarcoidosis, and its clinical manifestations are diverse, so it is easy to be misdiagnosed. We report a patient with sarcoidosis with multiple brain nerve damage as the main manifestation as follows.

FOSMN syndrome (facial onset sensory motor neuronopathy syndrome), also known as facial onset sensory motor neuronopathy, is a relatively rare, adult sporadic clinical syndrome. Its typical clinical features are sensory abnormalities that first occur in the innervated area of the facial trigeminal nerve, gradually involve the scalp, upper trunk and limbs, and then slowly progress to muscle weakness of the medulla oblongata, neck and upper limbs. The disease was detected in 2006 by Vucic et al.^[1]First reported, including 1 case reported in China^[2]Including, there have been more than 30 reports worldwide so far. We review and prospect the clinical features, possible pathogenesis, diagnosis and treatment progress of FOSMN syndrome.

primary activity-related headache refers to activity-induced headache excluding intracranial disorders, including primary cough headache (PCH), primary exercise headache (PEH), primary headache associated with sexual activity (PHASA). At present, there are few reports of primary activity-related headache in China. We review the progress of three types of primary activity-related headache in order to improve clinicians' understanding of the disease.

intravascular lymphoma (IVL), also known as intravascular lymphomatosis, is a rare extranodal systemic malignant tumor. lymphoma cells proliferate in large numbers and abnormally aggregate in the lumen of small blood vessels, which is highly aggressive^[1]。 IVL can involve all organs in the body, but the central nervous system (CNS) and skin are the most common^[2]。 According to literature search, more than 300 cases of CNS-IVL have been reported abroad so far^[2,3]They are mostly distributed in Japan and European and American countries, while only about 30 cases have been reported in China, which may be related to the insufficient understanding of this disease and the low penetration rate of autopsy. The clinical, imaging features and pathological manifestations of CNS-IVL are reviewed systematically, aiming at improving the attention and understanding of relevant doctors and avoiding misdiagnosis or misdiagnosis.

Tissue kallikrein (TK) inhibits inflammation and proliferation of vascular smooth muscle cells^[1]。 The incidence of in-stent restenosis (ISR) after intracranial artery stenting is as high as 30.8%, which is an important factor affecting the clinical prognosis^[2]。 The results of a randomized controlled clinical trial to observe the efficacy of TK in preventing and treating ISR after stenting in patients with severe stenosis of the M1 segment of the symptomatic atherosclerotic middle cerebral artery (MCA) were published in 2016MedicineOn the magazine^[3]。 We briefly present the findings of the study for the reference of domestic readers.