2014年 · 第52卷第11期

The January 2014 issue of The Lancet is a routine annual retrospective summary album with the 2013 annual summary title for the pediatric neurology specialty, "paediatric neurology: A year of DNA technology." The first sentence of the article is "In 2013, the rapid development of DNA technology has fundamentally changed pediatric neurology"^[1]。 Because of the complexity of diseases, especially the presence of a large number of neurogenetic diseases, the pediatric neurology degree gives the impression that it is difficult to treat and more difficult to diagnose. However, in recent years, with the maturity of a variety of advanced molecular genetic detection methods, mainly second-generation sequencing technology and array-based comparative genomic hybridization (aCGH) technology, the price of detection has dropped rapidly, so it has been widely used in clinical diagnosis and scientific research, and the diagnosis and treatment of pediatric neurogenetic diseases has made rapid development. The discovery of a number of new pathogenic and/or susceptible genes has not only led us to know more about new diseases, but also to know more about the clinical phenotypes of some previously defined genetic diseases; It not only promotes diagnosis, but also gives birth to some more effective and individualized new treatments for pathogenesis, which greatly improves the traditional impression of emphasizing diagnosis over treatment of pediatric neurogenetic diseases^[1,2,3,4]。 However, the rapid development of clinical applications of these new technologies also brings many new challenges and problems. China is a country with a large population, and hereditary diseases, especially neurogenetic diseases, have become a major issue of great concern in the medical and health field of China because of the wide variety and the actual number of patients. In recent years, China's genetic disease detection technology has developed very rapidly, and it has basically synchronized with the world. At present, the above-mentioned new genetic detection technology has also begun clinical application. However, because it is in the initial stage, it faces more challenges and problems, involving how to choose the appropriate detection technology, how to interpret the detection results and how to treat its clinical significance. This is briefly reviewed for further discussion by peers in pediatrics.

In the summer of 2014, the public welfare activity of "Ice Bucket Challenge" burned to China. It is the name of the public welfare activity for patients with amyotrophic lateral sclerosis (ALS). ALS is a kind of motor neuron disease. It is a kind of neurodegenerative disease with unknown etiology that selectively invades the anterior horn cells of the spinal cord, motor neurons in the posterior brainstem group, cortical pyramidal cells and pyramidal tract. It often starts in adulthood. But sometimes generalized motor neuron disease generalizes all anterior horn cell diseases, such as spinal muscular atrophy (SMA) that occurs in children. With the overall improvement of China's social, economic and cultural level, infectious diseases and common diseases have been effectively controlled and medical protection, and the rare disease groups that have been neglected in the past have become important issues affecting the national economy and people's livelihood. The National Institutes of Health (NIH) statistics identified that the number of patients with rare diseases accounted for 0.65% ~1.00% of the total population; China has at least 10 million patients with rare diseases^[1]。 To date, more than 5,000 rare diseases have been named worldwide, accounting for about 10% of human diseases. Rare diseases can occur in all stages from infant to old age, of which 75% occur in childhood, which has become one of the main causes of neonatal death and death of children under 5 years old in China. Although every disease is rare, the cumulative number of patients with these rare diseases is astonishing. If they cannot be effectively prevented and treated, they will lead to disability and death, seriously affecting the quality of life of patients' individuals and families, and affecting the quality of the population. We should start from the medical workers themselves and raise the awareness and attention to the diagnosis and prevention of rare diseases.

sudden unexpected death in epilepsy (SUDEP) is the sudden death of epileptic patients without reasonable anatomical and toxicological evidence. The mechanism of its occurrence is still unclear. in recent years, the research on sudden death in epilepsy has attracted more and more attention. This paper summarizes the definition, diagnostic criteria, pathogenesis, risk factors and characteristics of sudden epileptic death in children, and puts forward suggestions to prevent sudden epileptic death in combination with the literature, hoping to minimize the risk of sudden epileptic death.

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in children^[1]。 The clinical manifestations were onset before the age of 5, symmetric limb weakness, with muscular atrophy and gastrocnemius hypertrophy, progressive development of the disease, and death from cardiopulmonary failure around the age of 20. There is no cure for DMD, so standardized symptom management is important^[2]。 Respiratory complications are widespread, which seriously affect the quality of life of patients and are also the leading cause of death in DMD^[2]In 2004, the American Thoracic Association (ATS) developed guidelines for respiratory management of DMD, which standardize respiratory function monitoring and intervention methods^[3]。 In 2010, the CDC established a management system for multidisciplinary collaborative treatment of DMD. Among them, respiratory complication management is an important measure to prevent respiratory failure, improve quality of life and prolong life span^[4,5]。 There are not many researches on the evaluation and management of respiratory function in China. Now, the research progress of DMD respiratory function evaluation and management will be reviewed.

Fanconi anemia (FA) is an autosomal or X-linked recessive hereditary disease with hematopoietic failure as the main clinical manifestation. It is often complicated by various somatic malformations and early onset of multiple solid tumors. It is mainly diagnosed by clinical manifestations and related laboratory tests^[1,2]。 The clinical diagnosis of FA is mainly based on the complete medical history, clinical manifestations and corresponding laboratory tests. The complete medical history includes the patient's personal medical history and his complete family history. When close relatives and other family members have anemia, thrombocytopenia, limb development abnormalities, breast cancer, head and neck tumors, etc. are helpful to diagnose this disease. In addition to the main hematological abnormalities, the clinical manifestations of FA are somatic malformations, endocrine diseases, hearing loss, infertility and the development of solid tumors. With the deepening of people's understanding of the molecular mechanism of FA, great progress has been made in the diagnosis and treatment of FA. The progress of laboratory diagnosis and treatment of FA is reviewed.

Sleep-disordered breathing (SDB) refers to breathing disorders during sleep. According to the severity, it is mainly divided into primary snoring (PS), upper airway resistance syndrome and obstructive sleep apnea and/or hypopnea syndrome (OSAHS)^[1]。 At present, the public and even medical staff are not aware of the complications such as cognitive behavioral dysfunction caused by SDB in children. In recent years, the research on the effects of children's OSAHS on neurocognition and psychological behavior has gradually increased. Combined with the related research in recent years, the effect of children's SDB on cognitive behavioral function and its mechanism are summarized as follows.

A 2-year-old and 8-month-old male was seen in our hospital on May 17, 2014 due to "fever, mental poverty for 4 days, and startling for 1 day". Four days before admission, the child developed fever without obvious trigger, with the highest body temperature of 38.8℃, poor spirit, and non-jet vomiting. He went to a local clinic and was treated with intramuscular injection and oral medication (specific medication unknown), but his condition did not improve significantly. One day before admission, the child developed drowsiness, jumping, and turning up his eyes. He went to the local hospital again two hours before admission. Physical examination revealed that the child had a rash on his feet (the time of the rash was unclear to the parents). He was diagnosed as "severe hand, foot and mouth disease and viral brainstem encephalitis". He was transferred to our hospital after giving saline volume expansion, mannitol and furosemide to reduce intracranial pressure, milrinone cardiotonic, and phenobarbital intramuscular injection. The child was in good health and had no history of allergic disease, and denied contact history with hand, foot and mouth disease.

Case 1 female, 1 month old, was seen in our hospital because "heart murmur was found for 1 month, milk refusal, shortness of breath with skin spots for half a month". The child is the first birth and first birth, with a gestational age of 35^＋4Weeks, corrected gestational age 40^＋6Zhou, due to premature rupture of membranes, was delivered in breech position by cesarean section. Birth weight 2.4 kg, birth status acceptable, 1 min Apgar score 8, 5 min Apgar score 10. Half a month before admission, milk refusal, shortness of breath and skin flower appeared, and the local hospital diagnosed it as "neonatal heart failure". After cardiotonic and diuretic treatment, the symptoms were not relieved obviously, so he was admitted to our hospital for further diagnosis and treatment. The mother had gestational diabetes, the parents were unrelated, and there was no similar medical history in the family.

Case 1 male, 9 years old, was seen in our hospital for "acute lymphoblastic leukemia (ALL) diagnosed for 6 months". Six months ago, the child developed fever without obvious trigger, with the highest body temperature of 39 ℃, no chills, no cough, expectoration, no special accompanying symptoms such as abdominal pain and diarrhea. The body temperature could be lowered to normal after taking oral antipyretic drugs, and the fever was intermittent for 8~12 hours. He was seen in a local hospital. On physical examination, he had multiple lymph nodes swollen in the neck, sternal tenderness (+), no abnormalities in the heart and lungs, and no subcostal findings in the liver and spleen. Blood routine: white blood cells 28×10⁹/L, hemoglobin 98 g/L, platelets 49×10⁹/L; Bone marrow cytology examination: 93% of naive + naive lymphocytes; Immunotyping: Blasts accounted for 84.4%, and CD20, CD33, CD10, CD34, HLA-DR, CD19 and cyCD79a were all positive expressions; Fusion gene testingBCR-ABL(P190) =1.27×10⁴； Chromosomes: 46, XY, t (9; 22). Diagnosis: acute common B-line lymphocytic leukemia (common-B-ALL),BCR-ABL(P190) (+), high risk type.

The 17th National Academic Conference on Pediatric Hematology, jointly sponsored by the Hematology Group of the Pediatrics Branch of Chinese Medical Association and the Editorial Committee of Chinese Journal of Pediatrics, was held in Guangzhou, Guangdong Province from May 22 to 24, 2014. More than 300 representatives from provinces, municipalities and autonomous regions across the country attended the meeting. The conference received a total of 361 manuscripts, including 14 special lectures and 63 speeches. The conference continued to open a youth forum, and the atmosphere at the conference was lively. The participants expressed their opinions and shared and exchanged clinical and scientific research achievements in recent years.