Abstract: By report a case in which the main symptom was cholestasis in an infant and the diagnosis of Alagille syndrome (ALGS) was made after a tortuous treatment process, so as to provide clinicians with experience in diagnosing this type of patient. The patient was a 1-year and 11-month-old male who was admitted to the hospital with "abnormal liver function found for more than 1 year". Physical examination showed a wide forehead, sunken eye sockets, wide eye spacing, a sharp chin, and a grade II systolic murmur in the pulmonary valve region. Biochemical findings showed abnormal liver function accompanied by significant elevation of total bile acids and γ-glutamyl transpeptidase. CT scan of the thoracic vertebrae showed sagittal vertebral fractures in the thoracic 3-7 vertebrae, and pulmonary arteriography showed pulmonary stenosis and genetic testing indicated a JAG1 mutation. Combining the patient's specific facial features, heart defects, spinal deformities, and bile stasis clinical symptoms, along with the genetic analysis results, the final diagnosis was confirmed as Alagille syndrome. Alagille syndrome is the most common cause of chronic cholestasis with phenotypic features and is a dominant inherited disease involving multiple systems. Most patients present with bile stasis as the main symptom within the first three months after birth. Alagille syndrome needs to be distinguished from various forms of cholestasis in infancy, and since biliary atresia requires early surgical treatment, most children with cholestasis as the main clinical manifestation are considered to have biliary atresia at an early stage and undergo a caesarean section. If Alagille syndrome is misdiagnosed as biliary atresia, and surgery may worsen the prognosis. Therefore, the biggest challenge in the early diagnosis of Alagille syndrome is how to distinguish it from biliary atresia. Therefore, physicians need to improve their knowledge of rare cholestatic liver disease in clinical practice to accurately identify rare cholestatic liver disease in the early stages of the disease, and improve improve their diagnosis and treatment levels.

Objectives:To investigate clinical characteristics, outcomes and antimicrobial resistance of community-acquired Pseudomonas aeruginosa (CAPA) infections in Chinese pediatric patients. Methods:This retrospective study was conducted at 6 tertiary hospitals in China during January 2016 to December 2018. The clinical and microbiological data of CAPA infected hospitalized children in Hainan and in other regions were collected and compared, and the antimicrobial resistance patterns, clinical characteristics and antibiotic therapy were analyzed. Between different groups were compared using the Chi-square test and Mann-Whitney U test. Results:Among 91 patients, 63 cases were males, 28 cases were females, and 74 cases were from Hainan province, 17 cases were from other regians. The age of consultation was 22.5 (5.4, 44.0) months. Twenty-four cases (26%) had underlying diseases. Fever (79 cases (87%)) and cough (64 cases (70%)) were common initial symptoms. Other concomitant symptoms included wheezing 8 cases (9%), diarrhea 3 cases (3%) and vomiting 4 cases (4%). Twenty-eight cases (31%) had organ infections, including pneumonia 22 cases (24%), skin infection 5 cases (5%), meningitis, intra-abdominal infection and upper urinary tract infection each 1 case (1%). The resistance rate of CAPA isolates to cefepime (4% (4/90)), amikacin (1% (1/90)), ciprofloxacin (2% (2/90)) and levofloxacin (1% (1/89)) was low, and to ceftazidime, piperacillin, piperacillin-azobactam, carbapenem was 12% (11/90), 3/16, 18% (10/56) and 6% (5/90), respectively. Antimicrobial combination therapy accounted for 52% (47/91) of empirical therapy and 59% (52/88) of definite therapy. Two cases (2%) were hopeless discharged, and 3 cases (3%) died during hospitalization. The worse prognosis of CAPA infection is significantly different among children in other regions and in Hainan (4/17 vs. 1% (1/74), χ2=9.74, P<0.05). Conclusions:The invasive CAPA-infection has regional difference in incidence and prognosis in China. Clinical symptoms and signs are non-specific. CAPA strains isolated from pediatric patients display low level of resistance to most of the common antipseudomonal antibiotics. The proportion of poor prognostic outcome is lower in Hainan than in other regions.