2018年 · 第56卷第07期

The incidence of food allergy in children is increasing year by year. A 2016 retrospective cross-sectional cohort study showed that the incidence of food allergies among U.S. children was 6.7%, with about 40% of children experiencing severe allergic reactions, and about 30% of children having multiple food allergies^[1]。 Severe food allergic reactions and food allergy-related digestive tract diseases are increasing in pediatric emergency department, which has become an important pediatric clinical problem. Previously, Chinese pediatricians mostly referred to relevant foreign guidelines and consensus, but due to social culture and economic differences, there were some problems in the process of using them, such as: alternative formula selection in diagnosis, deep hydrolysis formula in foreign countries, amino acid formula in China^[2]。 In order to improve the management level of Chinese pediatricians to food allergy, taking milk protein allergy as an example, Immunology Group of Pediatrics Branch of Chinese Medical Association, etc^[3]In 2013, the first evidence-based recommendation on allergy in China, "Evidence-based recommendations for the diagnosis and treatment of milk protein allergy in infants and young children in China", was published. This recommendation has improved the understanding of pediatricians on the diagnosis and treatment of milk protein allergy. The Gastroenterology Group of the Pediatrics Branch of the Chinese Medical Association published the "Expert Consensus on the Diagnosis and Management of Food Allergy-Related Digestive Tract Diseases" in July 2017^[4]The lecture tour carried out nationwide was highly praised by doctors at all levels. However, there is still confusion in diagnosis and clinical management. Therefore, the key issues are further discussed.

Cerebral palsy (abbreviated as cerebral palsy) is a group of motor and postural development disorders caused by non-progressive brain damage in developing fetuses or infants, often accompanied by secondary muscle and skeletal deformities. According to incomplete statistics, the international incidence rate of cerebral palsy can reach 0.20% ~0.35%^[1]There are about 5 million patients with cerebral palsy in China, and the number is increasing at a rate of 50,000 every year. Cerebral palsy is the most common cause of children's physical disability at present. As children grow up, it can be accompanied by different types and degrees of secondary dysfunction and damage, which brings heavy economic and mental burden to families and society^[2]。 Spasm is the main core symptom in 80% of children with cerebral palsy^[3]If its spasm is not effectively controlled, the spastic muscles will continue to be overactive, while the antagonistic muscles will continue to be passively stretched. Such repetition can lead to obvious movement restriction and posture abnormalities in children, such as walking difficulty, "scissor legs", pointed feet and squat gait, etc.; Secondly, with the increase of age, the spastic muscles of children with cerebral palsy do not match the growth rate of bones, which is easy to induce secondary deformities such as Achilles tendon contracture, hamstring shortening or hip dislocation. Therefore, reasonable control and treatment of limb spasm in children with cerebral palsy can reduce or prevent secondary poor compensation and functional impairment in children, which is particularly important for improving and improving the quality of life of children with cerebral palsy.

In the past 30 years, gastrointestinal endoscope has developed rapidly in the field of pediatrics, and the updated development of endoscopic equipment has promoted the progress of pediatric endoscopic technology and the progress of endoscopy-related clinical research. The operation routine of pediatric fiber gastroscopy was established in China in 1996^[1]Although the development of children's gastrointestinal endoscopy in China has been greatly changed and improved in recent years, there is no latest guideline for children's gastrointestinal endoscopy in China. The American Society for Gastrointestinal Endoscopy (ASGE) and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (NASPGHAN) developed three guidelines for Pediatric Endoscopy in 2000, 2008, and 2014, respectively^[2]The European Society of Gastrointestinal Endoscopy (ESGE) and the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) also developed guidelines for pediatric Endoscopy in 2016 (hereinafter referred to as ESGE and ESPGHAN guidelines), and in 2017EndoscopyA summary of the ESGE and ESPGHAN guidelines was published on^[3], the ESGE and ESPGHAN guidelines are the most comprehensive and detailed compared to previous guidelines. The summary of this guideline is now introduced and interpreted in detail for the reference of clinical pediatric gastroenterologists, so as to promote the standardization of the application and operation of children's digestive endoscopy, improve the level of endoscopy, and improve the rationality of endoscopic treatment.

Case 1 male, 6 years old, was admitted to the First Hospital of Jilin University in November 2017 because of "foreign body inserted into the anus for 18 h". 18 h before admission, the child stuffed a pencil into the anus by himself because of fear of defecation. The specific length was unclear. There was no blood in the stool and no fever. 12 h before, he had dull pain in the lower abdomen and vomited three times. The vomit was undigested food, no bile and bloodshot. He was given 40 ml of glycerol laxative to laxate the constipation, but the foreign body was not discharged. He went to the local hospital for abdominal X-rays and found no abnormalities. It is recommended to go to our hospital for colonoscopic foreign body removal. Physical examination: body temperature 36.8 ℃, pulse 98 beats/min, breathing 20 beats/min, blood pressure 96/68 mmHg (1 mmHg =0.133 kPa), general condition is good, abdominal pain is obvious in recumbent position and sitting position, abdominal soft, low abdominal tenderness, no muscle tension and rebound pain, bowel sounds 3 times/min, no foreign body palpable in digital anal examination, and no blood stains on finger cuffs. Cardiopulmonary and nervous system examination showed no abnormalities. Auxiliary examination: Abdominal color ultrasound showed a long strip of strong echo in the sigmoid colon of the right lower abdomen, about 62 mm long, considering a foreign body (Figure 1）。 The admission diagnosis was "colonic foreign body", and the emergency colonoscopic foreign body removal was performed. After routine cleaning enema, colonoscopy was performed under intravenous anesthesia. A pencil (8.6 cm long) was seen imprisoned at the junction of rectosigmoid colon 20 cm into the sigmoid colon. The nearby intestinal lumen mucosa was scattered with strip-shaped congestion, erosion and superficial ulcer. The end of the foreign body was taken with a snare, and the resistance was greater when the foreign body was pulled. After straightening the intestinal lumen, it was successfully removed. No perforation and bleeding were observed under the microscope (Figure 2、Figure 3）。 There were no signs of perforation on abdominal X-ray, abdominal pain and vomiting disappeared, abdominal examination showed no tenderness, and no discomfort after operation. He was discharged from hospital on the second day.

The 6-year-old and 8-month-old child was seen in the pediatric neurology clinic of Xiangya Hospital in December 2017 due to "dystonia for 6 years and dance-like movements for 5 years and 7 months". Six years ago, the child developed unstable head-up, low back weakness and increased muscle tone of the limbs. Five years and seven months ago, a few dance-like movements appeared, obvious in the upper limbs, and aggravated when emotionally agitated or nervous. A nocturnal generalized wiggling spasm lasting about a few minutes with unconscious loss occurred 5 years and 2 months ago. Intermittent facial twitches occurred 4 years and 7 months ago, which were evident at the angle of the mouth and periorbital. Three years and eight months ago, the condition worsened, and there was regression of motor development, inability to sit or walk alone, and interruption of sleep at night. Children can laugh at the age of 2 months, chase light at the age of 3 months, catch objects at the age of 5 months, make father and mother sounds at the age of 8 months, sit alone at the age of 1 year and 6 months, and walk alone at the age of 2 years and 2 months. Birth history and family history are not special. Physical examination: conscious, thin, can complete simple instructions, dysarthria. Whole body dance-like movements, weakness in vertical head, abnormal sitting posture, unsteady gait. There were no deformities in the head and face, and there were no fibrous twitches on the face, with twitches visible. No abnormalities were found in the skin, mucosa, heart, lung and abdomen. The axial muscle tone was reduced, the muscle strength of the limbs was grade 5, and the muscle tone was high. Bilateral knee tendon reflexes were active, ankle clonus was positive, residual pathological signs were negative, and meningeal irritation signs were negative. Auxiliary examination: blood lactic acid 2.6 mmol/L. Blood, urine and fecal routine, liver and kidney function, electrolytes, blood sugar, myocardial enzymes, blood ammonia, complete set of rheumatism immunity, arterial blood gas, ceruloplasmin, thyroid function and blood and urine metabolism screening were all normal. There were no abnormalities in chest X-ray, electrocardiogram, color ultrasound and electromyogram. Gesell Development Scale: Each energy zone lags significantly behind. Multiple video EEG: The EEG background was slow in awake period, and no obvious epileptiform discharge was observed. Multiple cranial magnetic resonance scans showed no significant abnormalities. Whole exon gene detection (Beijing Zhiyin Company): ADCY5 gene exon 2 c.1252C>T; The heterozygous mutation at p. R418W site is a reported site, and neither of its parents found the mutation (Figure 1）。 Diagnosis of psychomotor development retardation, dystonia. At the age of 1 year and 6 months, the child was treated with trihexyphenidyl and dobaserazide (Medopa) for 1 week, and after 6 months, he could sit alone, and after 10 months, his condition fluctuated after stopping the drug. Take trihexyphenidyl and medopa again at the age of 4 years and 4 months. Rehabilitation training was performed at the age of 4 years and 11 months, and he could walk alone after 7 months. After taking nitrodiazepam at the age of 6 years and 3 months, he suffered from general weakness, difficulty walking and sitting alone. After 1 1/2 months, he stopped nitrodiazepam and his condition improved. After taking clonazepam at 6 years and 6 months of age, choreographic movements, nocturnal sleep interruption and torsional spasm improved.

The child was a 6-year-old girl. The main reason was paroxysmal binocular upward vision for 4 years, and he was seen in Xuanwu Hospital in November 2017. Four years before admission, the child had episodic binocular upward vision without obvious trigger, which was manifested as sudden head lowering with binocular upward vision in the waking period, and eyes were dull, each time lasting for 5 to 10 s. The attack is accompanied by or without weakness in the body, but without falling. It occurs more than 10 times a day, with fever, fatigue or supine position. The interepisodic period is generally in good condition. Electroencephalogram in other hospital showed epileptiform discharge, and the diagnosis was epilepsy. After levetiracetam 3 ml twice/d, sodium valproate 4 ml twice/d, nitrazepam 1 mg twice/d, and topiramate 5 mg twice/d, all of them were ineffective or transiently effective, and the original seizure frequency returned after more than 10 days. Therefore, the anti-epileptic drugs were gradually stopped, leaving only levetiracetam oral solution 2 ml once/d. The child was the second birth of her mother, the second birth, a full-term cesarean section, with a birth weight of 3 750 g. 2-year-old can talk and walk alone, but walking is unsteady and easy to fall. Has gone to primary school and has poor grades. The child developed paroxysmal torticollis at the age of 3 months, without complexion changes and limb movements, and was conscious, lasting for several minutes each time. The symptoms disappeared after the age of 2 years. One and a half years old had a history of febrile convulsions, more than 10 times in total, all of which were simple febrile convulsions. Family history is not special. Physical examination on admission: clear consciousness and good mental response. Poor computing power, can answer easily. Poor fine movement. The muscle strength and tone of the limbs were normal, the knee tendon reflex was positive, the neck was soft, the Klinefelter's sign and the Bruin's sign were positive, and the bilateral Pap sign was negative. Finger nose is stable and accurate, eyes closed are difficult to establish negative signs, and walking in a straight line is unstable. Auxiliary examination: No abnormalities were found in blood biochemistry and blood routine. Cranial magnetic resonance imaging showed no abnormalities. Cation emission chromatography X-ray photography showed a decrease in left temporal lobe deoxyglucose (FDG) extraction during interepisodes. There was no abnormality in the EEG at the same time of the attack, and slow waves with high to very high amplitude were observed in the waking and sleeping periods between attacks, which were emitted rhythmically, with obvious bilateral posterior head (Figure 1）。 Genetic testing: Exon 25 of the CACNA1A gene has a heterozygous variant C.4036C>T, resulting in an amino acid change P.R1346X. This variant is a nonsense variant and a pathogenic variant. Can cause familial hereditary hemiplegic migraine type 1; Spinocerebellar ataxia type 6; Paroxysmal ataxia type 2. The parent had no variation at this site, and this variation was spontaneous (Figure 2）。 Diagnosis: Paroxysmal ankylosing upper vision (PTU), oral treatment with dobaserazide tablets 0.125 mg once/d, the frequency of attacks decreased by 30% after taking the drug for half a month, and then the dose was increased to 3.125 mg twice/d. After taking it for more than 1 month, the number of attacks was reduced by more than half compared with before, and there was basically no attack after taking it for 2 months.

The 2-day-old male was seen in the Department of Neonatology of Chengde Central Hospital in August 2017 due to poor postpartum response and poor feeding for 2 days. The child was the first birth of her mother, with a gestational age of 39⁺¹Zhou, born naturally, birth weight 2 690 g (between the 3rd and 10th percentile), head circumference 31.5 cm (below the 3rd percentile), body length 48 cm, found weak crying, poor reaction, spitting, artificial feeding of formula milk, poor feeding, weak sucking, nausea, transferred to our department from outside hospital. The parents were not intimate married, the family genetic history was denied, and there was no history of exposure to special substances. Physical examination at admission: temperature 37.0 ℃, pulse 118 beats/min, breathing 68 beats/min, blood pressure 70/52 mmHg (1 mmHg =0.133 kPa), oxygen saturation 0.92, weight 2 520 g, head circumference 31.5 cm, body length 48 cm, poor response to stimulation, weak crying, hoarseness, like cat meowing. The skin is yellow, the face is round, the anterior fontanel is flat, the tension is not high, the fontanel size is 1.0 cm, there is no scalp mass, the sclera is yellow, there is no wide distance between the eyes, there is no low and flat nasal bridge, and there is no low ear position. Slightly shortness of breath, inspiratory ringing throat. Four muscle tone is low. The sucking reflex is weak, the foraging reflex is weak, the holding reflex leads out normally, and the hugging reflex is incomplete. Auxiliary examination: white blood cell count 6.4×10⁹/L, red blood cell count 5.33×10¹²/L, hemoglobin 190 g/L, platelet count 159×10⁹/L, neutrophils 0.405, lymphocytes 0.499; Procalcitonin 0.78 μ g/L. Karyotype analysis of peripheral blood lymphocytes revealed that it was determined to be 46, XY, del (5) p15 [20]. Whole genome chip analysis (named by ISCN2013): contained three chromosomal abnormalities, among which the change related to cat meowing syndrome was Loss5p15.2pter (113 576~13 464 559); Gain (14q32.33) and Loss (14q11.2) were benign CMV changes, and no pathology was reported. The key genes missing in this child were TERT (1 253 166~1 295 625) SEMA5A (9 035 025~9 546 120) MARCH6 (10 353 638~10 440 387) CTNND2 (10 971 951~11 904 154), which were sensitive genes for haplodose deficiency. The diagnosis of cat meowing syndrome was based on the child's medical history, clinical manifestations and genetic analysis results. After admission, the patient was treated with comprehensive treatment such as anti-infection, incubator phototherapy, milk volume adjustment, medication to promote gastrointestinal motility and fluid rehydration. After 11 days, the feeding was better than before, the body weight was 3 030 g, the stimulus response was sensitive, and the clinical improvement was improved. The child was followed up for 3 months, and his family complained of repeated vomiting and slow feeding. Physical examination: head circumference 38 cm, weight 5 000 g, length 55 cm (all below the 3rd percentile), crying like a high-profile cat after stimulation, no special face, adducted thumb, unable to chase people, objects, unable to laugh, prone position with head up 20 degrees.

Toilet training is an effective training method for infants to obtain defecation and urination control. Its implementation not only involves complicated nerve and muscle participation, but also is restricted by social cultural customs and environmental material conditions^[1,2,3]。 Therefore, the ability to control defecation and urination, especially to go to the toilet independently, is often considered an important marker of childhood development. For half a century, the age of toilet training for infants and young children has been gradually delayed worldwide. Delaying or neglecting defecation and urination training has become the mainstream cultural trend of parenting in today's society. Especially in the developed countries of Europe and America, the age of spontaneous defecation and urination has been delayed from 24 months in the 1950s to 36-48 months in the early 21st century^[3,4,5,6,7]。 In recent years, the change of children's toilet training age and the influence of over-reliance on delayed training including disposable diapers (also known as diapers) on the ability of infants and young children to obtain bladder and rectal control have begun to attract attention, which needs further research in the industry. The influence of the development history and current situation of toilet training on the development of children's excretory function is summarized as follows.

In the field of medical research, cross-sectional surveys, cohort studies, case-control studies, randomized controlled studies, non-randomized controlled studies, etc. are the commonly used design types of quantitative studies. Qualitative research collects data through on-site observation, experience or interview, collects detailed information of the speaker for in-depth research, and conducts inductive summary and interpretation.