2016年 · 第54卷第10期

Epilepsy is one of the common neurological diseases in children. Its etiology is complex and diverse, especially refractory epilepsy. Anti-epileptic drugs are not ideal for its seizure control. Therefore, clarifying the etiology is the key to epilepsy treatment. Year 2014Nat Rev NeurolAn article was published, pointing out that the progress of science and technology has made great changes in the classification of the causes of epilepsy. The article compared the changes of the causes of epilepsy in 1975 and 2014, and there are three outstanding points. First, the implementation of the Human Genome Project has greatly improved and deepened people's understanding of the relationship between genes and epilepsy. Idiopathic epilepsy, which was previously considered, is now considered to have genetic causes and can be detected; The second is to find the structurally abnormal epileptic lesions through high-resolution cranial magnetic resonance; Thirdly, due to the discovery of more and more neuron surface protein antibodies, autoimmune epilepsy exists as an independent cause, which also provides a treatment for some refractory epilepsy^[1]。 In 2010, the International Anti-Epilepsy Alliance (ILAE) also classified immune factors as one of the six leading causes of epilepsy in the etiological classification of epilepsy.

febrile seizures are one of the most common neurological diseases in childhood and the most common cause of convulsions, with a prevalence of 3% ~5%^[1]。 In recent years, there are some new understandings about the definition, clinical diagnosis and evaluation, treatment and prevention of febrile convulsions. In order to promote the comprehensive and correct diagnosis and treatment of febrile convulsions and related epileptic syndromes by clinical pediatricians, the Neurology Group of Pediatrics Branch of Chinese Medical Association set up an expert group to discuss and formulate an expert consensus on the diagnosis and treatment of febrile convulsions in children, aiming at standardizing the diagnosis and treatment of children with febrile convulsions and avoiding excessive examination and treatment.

Inflammatory bowel disease (IBD) includes Crohn's disease (CD), ulcerative colitis (UC), and unclassified IBD (IBDU). The exact diagnosis of IBD requires comprehensive medical history, physical examination, laboratory tests, endoscopic and imaging tests, and strictly excludes intestinal infection, allergic disease or primary immunodeficiency disease (PID). Recent studies on childhood-onset IBD (PIBD) highly suggest that all three subtypes of PIBD have atypical phenotypes. This criterion is an improvement from the 2005 Porto criteria, using an evidence-based approach, integrating the latest evidence, including diagnostic methods, definitions of PIBD subtypes based on Paris classification, and diagnostic misconceptions, to provide quality individualized management and reliable diagnosis, evaluation and prognosis for the new generation of PIBD.

Convulsions are common acute and severe neurological diseases in childhood. febrile seizures, also known as febrile seizures, are the most common cause of convulsions in children and one of the common diseases in pediatric outpatient and emergency departments. The definition, diagnosis, prevention and treatment of febrile convulsions are very important clinical issues. Chinese Journal of Pediatrics published the suggestions of Chinese experts on the diagnosis and treatment of febrile convulsions in 1984^[1]It has played an important role in guiding the majority of pediatricians to standardize the clinical diagnosis and treatment of this disease. In recent years, with the rapid development of neuroscience, molecular genetics and epilepsy, there are many new understandings about the pathogenesis and management standards of febrile convulsions, and relevant guidelines or recommendations have been published internationally. However, there is still a lack of high-quality guidelines for this disease and related diseases in clinical practice^[2,3,4]Especially for the emergency treatment of febrile convulsions, the use of antipyretic agents and long-term prevention, high-level research evidence is particularly lacking. In order to promote pediatricians to diagnose and manage febrile convulsions and related clinical problems comprehensively and correctly, the Neurology Group of Pediatrics Branch of Chinese Medical Association set up an expert group to discuss and formulate the "Expert Consensus on Diagnosis and Management of Febrile Convulsions in Children (2016)" (referred to as the Consensus)^[5]。 Due to the lack of high-level clinical research evidence, this consensus still has certain limitations, so it is interpreted to better guide clinical practice.

The 8-year-old male was admitted to hospital in October 2014 due to "shortness of breath after activity with cyanosis of fingers and toes for 1 year". One year ago, the child gradually developed shortness of breath after activity without obvious inducement, did not like activity, did not want to climb stairs, could not run, and gradually developed cyanosis of fingers and toes, obvious snoring during sleep, ability to lie down, occasional knee pain, and occasional cough. No wheezing, no hemoptysis, no chest tightness, chest pain, no headache, dizziness, no mental regression, no loss of consciousness. I went to the Department of Children's Endocrinology of our hospital, Beijing Tiantan Hospital and Pediatric Hospital affiliated to Fudan University many times, and the examinations such as electrocardiogram, cardiac ultrasound and chest X-ray were all normal.

The child, 2 years old and 1 month old, was admitted to the Department of Neurology, Children's Hospital affiliated to Capital Institute of Pediatrics in May 2015 because she "can't sit alone yet". The 2-year-old and 1-month-old child still had unstable vertical head, incomplete turnover, inability to sit or stand alone, and his intelligence and motor development were obviously behind those of the same age, accompanied by horizontal tremor in both eyes and no convulsive attacks. No feeding difficulties since birth, but unsatisfactory weight gain. The child was the second birth and the second birth, and the mother's pregnancy and birth history was normal. The child's parents are healthy, denying close relatives' marriage, and his sister is 3 and a half years old and in good health. Related family history and genetic history were denied.

A male child, 1 year old and 9 months old, came to the First Hospital of Peking University in July 2015 due to "backward motor development since childhood and frequent apparent deformities", and was followed up for many times. The last follow-up in March 2016 was 2 years old and 5 months old. After birth, the child has no voluntary activity in both lower limbs, voluntary activity in both upper limbs, low muscle tone in the limbs, contracture of hip and knee joints, incomplete closure of eyelids, difficulty in sucking and swallowing, easy choking and coughing, aspiration, and nasal feeding. 1 year old and 5 months old can raise their head, and 1 year old and 9 months old can sit for 10 minutes. At the age of 2 years and 5 months, he still has difficulty in sucking and swallowing, and is unstable when sitting alone. He can sit leaning for 1 h without turning over. Both upper limbs can be lifted up, but both lower limbs cannot be lifted off the bed. Susceptible to pneumonia, 3 to 4 times a year, without aggravation of muscle weakness after infection. Seeing and hearing. Intellectual development: When you are 2 years old, you will consciously call your mother, and you can recognize people and understand simple instructions at the age of 2 years and 5 months. The child was the second birth and the first birth, and the mother's first birth was aborted at the third month of pregnancy. The child had less intrauterine fetal movement, and fetal movement occurred at 20 weeks of gestational age.^＋1The Apgar scores at 1, 5 and 10 minutes were 7 points (breathing, muscle tone and skin color decreased by 1 point), 8 points (breathing and muscle tone decreased by 1 point) and 8 points (breathing and muscle tone decreased by 1 point), respectively. Inspiratory laryngeal stridor after birth, flapping of the nasal wing, positive triple concave sign, and mechanical ventilation with tracheal intubation for 1 d.

The 6-year-old child was admitted to Guangzhou Women and Children's Medical Center in March 2016 due to "repeated fever for 15 days and epistaxis for 3 days". 15 days ago, the child had repeated fever without obvious trigger, with the highest temperature of 39.2 ℃, accompanied by abdominal distension and occasional cough. The quantification of Epstein-Barr virus (EBV) in the local hospital was 3.72×10⁷Copies/ml, diagnosed as "chronic active Epstein-Barr virus infection?", and treated with "ganciclovir and intravenous gamma globulin [1 g/ (kg·d) ×2 d]", the condition did not improve significantly. Visited our hospital 4 days before admission, blood routine: white blood cells 3.6×10⁹/L, hemoglobin 89 g/L, platelets 35×10⁹/L; EB four items: EBV shell antigen (VCA) -IgM negative, CA-IgG, early antigen (EA) -IgG, nuclear antigen (NA) -IgG all positive, epistaxis and skin bleeding spots occurred 3 days before admission.

Example 1Male, 13 years old and 11 months old, was admitted to hospital in July 2012 due to "chest tightness and shortness of breath for 3 months", with cough, expectoration and bloodshot sputum from time to time. The local health center once gave anti-infective treatment according to "pneumonia", but there was no relief, and chest tightness and shortness of breath gradually worsened, so I couldn't lie down at night. Cardiac color Doppler ultrasound in the local hospital showed a large amount of pericardial effusion, and chest CT showed interstitial inflammation of both lungs; A small amount of effusion in the right pleural cavity; Mediastinal soft tissue thickening. Pericardial puncture was performed to drain 3 200 ml of blood fluid, and red blood cells filled the visual field. For further diagnosis and treatment, go to our hospital for treatment. Children with recurrent lower respiratory tract infections from the age of 3, about 5 to 6 times/year, all improved after treatment, and the incidence frequency decreased slightly with age.

The child was a girl, 7 months old. He was admitted to the Department of Pediatrics of Wuhan Tongji Hospital in June 2014 due to "repeated diarrhea for more than 5 months with fever and cough for 2 days". The child began to develop diarrhea at 2 months after birth, which was yellow watery stool, without mucus, pus and blood, and without fishy odor. 2 to 5 times a day. Multiple blood biochemical examinations in hospital showed low sodium, low chloride and metabolic alkalosis. Symptomatic and supportive treatment was given, and after improvement, he was discharged. The child developed hypokalemia at 4 months, and the effect of oral potassium supplementation was not good, and he still had persistent watery diarrhea. Two days before admission, the children began to develop fever (up to 38.7 ℃), cough and expectoration, and the frequency of defecation increased, 7 to 8 times a day. Past history: The child was the first birth and first birth, gestational age 37^＋2Weeks, no obvious abnormalities were found during pregnancy. Birth weight 2.4 kg, length 50 cm, mixed feeding, can defecate shaped stool. The family history is not special, and the parents are not close relatives.

epilepsia partialis continua (EPC) is a spontaneous regular or irregular myoclonic convulsion that originates in the cerebral cortex and is confined to a certain part of the body, sometimes aggravated by motor or sensory stimulation, with intervals of no more than 10 s and a minimum duration of 1 h, often lasting for hours, days or weeks, or even longer^[1,2]。 This paper introduces the naming, pathophysiology, etiology, clinical manifestations, diagnosis, treatment and prognosis of EPC.

Infantile spasticity is a special type of epileptic seizure, which is mainly characterized by repeated series of spastic seizures, EEG peak abnormalities, and mental and motor development retardation. It has been reported in literature that the proportion of mental and motor development retardation in children with infantile spasticity is as high as 80% ~90%^[1]。 Infantile spasticity is a type of refractory epilepsy, which mainly occurs within 1 year after birth, and the peak age of onset is 4 to 7 months^[1], is an age-dependent epileptic encephalopathy. Aminohexenoic acid was approved for marketing in the UK in 1989 and approved by the US Food and Drug Administration in 2009 for the treatment of infantile spasms and refractory focal epilepsy, making it one of the drugs of choice for the treatment of infantile spasms, especially in patients with tuberous sclerosis^[2]。 Aminohexenoic acid is a structural analog of gamma aminobutyric acid (GABA), which inhibits the catabolism of GABA by irreversibly inhibiting GABA aminotransferase, thereby increasing the concentration of GABA in the brain and achieving an anti-epileptic therapeutic effect^[3]。 In foreign literature, the therapeutic dose of aminohexenoic acid is 0.10~0.15 g/ (kg·d)^[4], typically effective after 2 weeks of initial treatment, manifested by a reduction or disappearance of spastic attacks and the disappearance of peak arrhythmia-like EEG^[5]。 Therefore, while aminohexenoic acid has not yet entered the Chinese market, many parents of children with infantile spasms buy it through various channels. Because the potential retinal toxicity of aminohexenoic acid leads to peripheral visual field defects in children, many clinicians have concerns about the use of aminohexenoic acid. Now, the research on retinal toxicity related to aminohexenoic acid is reviewed to help readers further understand this adverse reaction of aminohexenoic acid and take appropriate prevention.

Whooping cough is an acute respiratory infectious disease caused by pertussis bacterium, which mainly affects infants and young children. Since 1950s, the widespread vaccination of DTP combination vaccine has significantly reduced the incidence and mortality of whooping cough. However, in recent years, the incidence of whooping cough has increased globally and local outbreaks have occurred^[1,2], called whooping cough reappearance. The resulting increase in disease burden and infant mortality has aroused great concern in society. The main reason may be that after vaccination, especially after acellular pertussis vaccine (aP) vaccination, the persistence of protection decreased significantly compared with whole cell vaccine^[3]。 Latent infections have increased in adolescents and adults, becoming an important source of infection of whooping cough in infants and young children. Newborns rely primarily on passive immunity with maternal antibodies to fight infection before vaccination. Thus, through pregnancy vaccination, maternal antibodies are transmitted to the fetus through the placenta, thereby providing protection to the baby before the age of vaccination, which has been demonstrated in the use of influenza vaccines^[4]。 Some countries have begun to change their immunization strategies^[5,6]。 Following the consensus that adolescents are included in booster immunization, aP vaccination for pregnant women is considered an effective means of protecting infants. The research progress of maternal and infant prevention of whooping cough at home and abroad is reviewed.

When encountering some kidney diseases accompanied by ocular abnormalities in clinical practice, pediatricians tend to only consider kidney symptoms and ignore ocular abnormalities, or only pay attention to ocular symptoms and ignore kidney abnormalities, and children's expression ability is limited, which often leads to missed diagnosis, misdiagnosis and delayed diagnosis. The reason is analyzed because the understanding of this type of disease is insufficient. Taking the main ocular abnormalities as clues, the clinical characteristics and genetic progress of several kidney diseases combined with ocular abnormalities or hereditary diseases with ocular and kidney damage are summarized as follows, in order to comprehensively understand and understand these diseases, and then make a correct diagnosis.

The situation faced by clinical research is very complicated, and data collection is difficult. In clinical studies, even with good quality control, more or less incomplete data records, i.e. missing data, occur. Missing data will be encountered in various aspects of data such as demographic data, exposure/intervention measures, outcome indicators, etc. The missing of some key data will make the whole case data unusable.