2015年 · 第48卷第12期

Although epilepsy is one of the few diseases in the field of neurology that can be effectively treated, the drug treatment effect of epilepsy has not met people's expectations in the past 40 years. The control rate, cure rate, morbidity and mortality of seizures were not significantly further improved. The prevention and treatment of epilepsy requires new ideas, new drugs and new ideas. It is an important task in the current epilepsy field to open up new paths and find new drugs.

Mitochondrial diseases are a relatively common and complex group of genetic disorders^[1,2]It is a group of diseases that occur due to defects in mitochondrial metabolic enzymes caused by genetic abnormalities. The pathogenesis of mitochondrial disease is mainly nuclear gene defects, mitochondrial gene (MtDNA) defects and signal transmission barriers between MtDNA and nuclear genes, resulting in substrate transport or utilization barriers, protein transport barriers, tricarboxylic acid cycle barriers, oxidative phosphorylation coupling barriers and respiratory chain defects, resulting in adenosine triphosphate synthesis barriers, increased oxygen free radicals, intracellular redox imbalance and induction of apoptosis, and finally multi-system damage. The clinical condition observation, the design of auxiliary examination and the treatment arrangement need to focus on the pathophysiological process of the disease.

mitochondrial disease refers to a group of genetic diseases characterized by oxidative phosphorylation dysfunction of mitochondrial respiratory chain caused by mitochondrial DNA (mtDNA) or nuclear DNA defects, excluding secondary mitochondrial dysfunction diseases caused by other factors. The rate of mtDNA mutation in adults was 1/5 000, while the rate of nuclear gene mutation in mitochondrial disease was 2.9/100 000^[1]。 There is no epidemiological data of mitochondrial diseases in China so far, but mtDNA mutation is the most common cause of hereditary optic neuropathy in China^[2], the 3243 point mutation of mtDNA appears in 1.69% of diabetic patients^[3]Dozens of hospitals in China^[4]Hundreds^[5]Or thousands^[6]Reports of mitochondrial disease suggest that the disease is not very rare. The clinical manifestations of mitochondrial diseases involve many systems of the human body, including encephalopathy, auditory neuropathy, optic neuropathy, cardiomyopathy, diabetes, kidney disease, liver disease, blood disease, gastrointestinal myopathy, skeletal muscle disease and peripheral neuropathy alone or overlapping. This guide focuses on diagnostic and therapeutic strategies for neurological mitochondrial diseases.

Bilateral pontic infarction is very rare. One bilateral pontic infarction was first reported by Lhermitte and Trelles in 1934^[1]。 Cardiopontine infarction is a rare type of bilateral pontic infarction, determined by the specific vascular anatomical basis of the pons, with typical imaging features. So far, only 3 cases have been explicitly reported abroad^[2,3,4]However, it is rarely reported in China. The case data of 2 patients with pontocardiac infarction diagnosed and treated in our department are summarized as follows, and reviewed with relevant literatures, aiming to explore their clinical characteristics, etiology, MRI findings and clinical prognosis.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune encephalitis. The initial symptoms include memory loss, epileptic seizures, and speech dysfunction, which can develop into motor dysfunction, involuntary movement, and hypoventilation in the later stage. Anti-NMDAR encephalitis is often associated with tumors, especially ovarian teratomas. The detection of anti-NMDAR antibodies in the cerebrospinal fluid of anti-NMDAR encephalitis is the basis for diagnosis. The cure rate of anti-NMDAR encephalitis is 75% after sufficient immunosuppressants, plasma exchange, especially tumor resection, but some patients have sequelae or recurrence. We report a case of anti-NMDAR encephalitis with refractory status epilepticus (RSE) as the main manifestation and successful intravenous infusion of midazolam combined with systemic hypothermia for clinicians' reference.

IgG4-related diseases (IgG4RD) are a group of immune-mediated diseases. In 2003, Japanese scholars discovered IgG4 (+) plasma cell infiltration in pancreas, biliary tract and other tissues and organs of patients with autoimmune pancreatitis. Since then, IgG4RD began to exist as an independent group of diseases^[1]The characteristics of multi-tissue and multi-organ involvement lead to its overlap with tumors, infections and other inflammatory diseases, and the diagnosis is mainly based on pathology. We present a case of IgG4RD with intraspinal space occupation in our hospital for clinical reference.

Amyotrophic lateral sclerosis (ALS) is a group of progressive neurodegenerative diseases with unclear pathogenesis. It mainly involves pyramidal cells of the cerebral cortex, motor nuclei of the brainstem and motor cells of the anterior horn of the spinal cord, which leads to the decrease of motor functions such as limb, swallowing and respiration, which seriously affects the daily life of patients and even leads to death. We report the clinical, electromyographic and genetic variation characteristics of a patient with sporadic ALS caused by a new mutation in the sarcoma fusion gene.

Large cell neuroendocrine carcinoma of the lung (LCNEC) is a rare pathological type of lung cancer, with an incidence rate of no more than 1% of all lung malignancies. LCNEC is highly malignant and prone to distant metastasis. Common sites of metastasis include liver, adrenal gland, bone and brain tissue. Meningeal metastases of LCNEC confirmed by imaging and cytology have not been reported. A patient with brain metastasis in LCNEC was admitted to our hospital in April 2013, which is now reported in the literature as follows.

Non-hereditary progressive cerebellar ataxia with onset in adulthood is rare in clinic, and its etiology is complex, including alcohol abuse, poisoning with multiple chronic drugs or poisons, vitamin deficiency, paraneoplastic cerebellar degeneration, autoimmune encephalitis, chronic nervous system infection, single gene variation, and neurodegenerative diseases such as multiple system atrophy, etc., which are difficult to diagnose and often misdiagnosed in clinical practice^[1]。 We report a patient with Hashimoto's encephalopathy presenting like spinocerebellar ataxia who was diagnosed after 4 years as follows.

Epilepsy is a common chronic neurological disease, with approximately 50 million people suffering from epilepsy worldwide, 80% of them in low-income countries. There are about 9 million epilepsy patients in China, accounting for about 0.7% of the total population, of which active epilepsy accounts for about 0.18% ~0.46%^[1]。 The vast majority of patients with epilepsy need to take antiepileptic drugs to control their disease, but some patients have various adverse reactions in the process of taking drugs. Most adverse reactions have mild clinical manifestations and may develop further or even be life-threatening if they are not paid enough attention. Fatal adverse reactions of antiepileptic drugs refer to medical events related to antiepileptic drugs that may lead to death. Understanding their occurrence characteristics, mechanism and pattern of occurrence and early diagnosis can greatly reduce the harm of their adverse reactions to patients.

Sudden epileptic death is an unexplained death of a patient with epilepsy that occurs suddenly or unexpectedly, with or without eyewitnesses, without trauma or drowning, with or without epileptic seizures, and requires the exclusion of status epilepticus. There are no toxicological and anatomical factors fatal in autopsy^[1]。 Recent studies have shown that a variety of mechanisms, including respiratory, cardiovascular and central, are involved in sudden epileptic death, but the specific mechanism is unknown.

Familial cortical myoclonic tremor with epilepsy (FCTME) is a high penetrance autosomal dominant genetic disease with cortical tremor, myoclonus and epilepsy as the core symptoms of adult onset, without neurological degeneration. Antiepileptic drugs can effectively control the symptoms. Electrophysiological examination showed giant cortical evoked potentials, enhanced C-reflex, and tremor-related cortical electrical activity by tic-locked inverse averaging technique (JLA). This disease has been reported worldwide, but has not been included in the classification of epileptic syndromes by the International Alliance against Epilepsy. The disease was first reported in Japan, named FEME (familial essential myoclonus and epilepsy)^[1], Dutch scholars reviewed and reported the clinical and electrophysiological characteristics of the disease family, which was uniformly named FCMTE^[2]But its pathogenesis and pathogenic genes are still being explored. We collected relevant literatures from Pubmed and Wanfang databases to summarize the research progress of this disease.

Lennox-Gastaut syndrome (LGS) is an age-related epileptic encephalopathy that often occurs in children aged 3 to 5 years^[1]Adult patients are mostly those with uncontrolled epilepsy in childhood. The disease is difficult to control with drugs, the overall remission rate is low, and it is easy to relapse^[2,3]Therefore, long-term combination medication is emphasized. Clobazan because of its cheap price^[4]And the efficacy is definite. In 2011, it was approved by the U.S. Food and Drug Administration (FDA) for adjuvant therapy of LGS ≥2 years old^[5]。 As there is no drug supply of clobazam in China, there are few relevant reports in China at present. We review the mechanism of action, clinical studies, drug interactions, adverse reactions and existing problems of clobazam in the treatment of LGS, so as to provide more and more effective ideas and schemes for the treatment of LGS.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving both upper and lower motor neurons. The main clinical manifestations are progressive aggravation of skeletal muscle weakness, atrophy, muscle fibrillation, bulbar paralysis and pyramidal tract sign. The average survival time is 3~5 years^[1]。 Many neuropsychological, electrophysiological, neuropathological and neuroimaging studies have confirmed that the degeneration process of ALS is not limited to the motor system, but can also involve multiple cognitive fields such as sensory, language and behavior, and has the characteristics of multi-system involvement^[2]。

intracranial atherosclerosis (ICAS) is the main cause of stroke^[1]46.6% of acute ischemic strokes in China are caused by ICAS^[2]And the annual recurrence risk of ischemic cerebrovascular events associated with it is as high as 17.1% to 38.2%^[3,4]。 Nowadays, with the related research of high resolution magnetic resonance imaging (HRMRI) of intracranial and extracranial atherosclerosis^[5,6,7,8]Increasingly, researchers have found that HMRI can effectively distinguish the morphology and composition of atherosclerotic plaques and evaluate the stability of plaques. To explore the pathophysiological mechanism of atherosclerosis-induced stroke can predict the risk of ischemic stroke, guide early prevention and treatment and reduce the occurrence of stroke. In view of this, we review the progress of HRMR research on plaque stability in ICAS.