[Multiple subcutaneous nodules for 46 days in an infant aged 66 days].

A boy, aged 66 days, was admitted to the hospital due to subcutaneous nodules for 46 days and abdominal distension for 10 days. The main clinical manifestations were loss of adipose tissue, subcutaneous nodules, insulin-resistant diabetes, hypertriglyceridemia, and hepatic steatosis. The boy was diagnosed with congenital generalized lipodystrophy type 1 (CGL1). His condition was improved after administration of middle-chain fatty acid formula milk and insulin injection or oral metformin. Gene testing revealed a homozygous mutation, c.646A>T, in the AGPAT2 gene, and both his parents were carriers of this mutation. This case of CGL1 has the youngest age of onset ever reported in China and multiple subcutaneous nodules as the initial symptom.

[A complicated case study: Hennekam syndrome].

Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.

[Primary mediastinal choriocarcinoma: a difficult and complicated case study].

Primary mediastinal choriocarcinoma is a very rare malignant tumor unrelated to pregnancy. Here a case of primary mediastinal choriocarcinoma was reported. The patient was a 13-year-old boy. He presented with shortness of breath, chest pain, fever, irritable cough and weight loss. The imaging examination showed a huge space-occupying lesion at the right edge of mediastinum. The autopsy results showed right lung and mediastinal choriocarcinoma cell carcinoma. After the introduction of the case, this paper reviewed the clinical characteristics, diagnosis and treatment of primary mediastinal choriocarcinoma.

[A pilot study on the proteome of cerebrospinal fluid of Staphylococcus epidermidis meningitis in children].

OBJECTIVE: Bacterial meningitis is a kind of central nervous system infection with a high incidence, disability and fatality in children. Prompt diagnosis and treatment are associated with an improved prognosis. Low positive rate of bacterial cultures of the cerebrospinal fluid (CSF) makes it difficult to make a definite diagnosis. This experiment aimed to investigate a proteome profile of normal CSF of Chinese children by two-dimensional polyacrydamide gel electrophoresis (2-DE), and to sieve the disease-specific proteins of Staphylococcus epidermidis meningitis (SeM) to provide basis for early diagnosis and treatment of SeM. METHODS: Four mL CSF samples were obtained respectively from SeM and normal children. The separated proteins with immobile pH gradient (IPG) 2-DE technology and protein spots were visualized by Coomassie Brilliant Blue staining. The stained 2-DE gels were scanned on the Imagescanner and pictures were obtained through Labscan software. The images were analyzed with PDQuest software and the differences of protein spots were compared between the SeM and normal children. RESULTS: Mean protein spots of the 2-DE gels were 438 and 425 in the SeM and normal groups respectively. Twenty-five protein spots only occurred in normal CSF and 12 spots only occurred in the SeM group. The expression of 6 protein spots showed up-regulation and that of 19 showed down-regulation in the SeM group compared with that in the normal group. CONCLUSIONS: A 2-DE profile of CSF proteome was successfully established in SeM and normal children through proteomic technique. By the differentiated analysis of these CSF 2-DE gels, the differences of CSF proteome profiles were found between SeM and normal children. Future analysis and identification of these spots will contribute to find out the disease specific proteins of SeM and to provide basis for early diagnosis and therapy of this disorder.

[Clinicopathological analysis of 141 pediatric autopsy cases].

OBJECTIVE: To summarize the major pathological findings, causes of deaths and reasons for misdiagnosis of 141 autopsy cases and thereby to improve the diagnosis level and reduce misdiagnosis. METHOD: A retrospective analysis of pathological reports and clinical materials of 141 pediatric autopsy cases from June, 1986 to June, 2006 of our department was performed. Classification was based on (1) international classification of diseases of the World Health Organization; (2) age: cases 28 d-3 years old were defined as infants and young children group, -7 yeas olds were defined as preschool age group, -14 years olds were school age group; (3) when statistics was conducted, the first 3 items of the clinical diagnoses were counted. If one of them was consistent with the pathological diagnosis, it was regarded as basically in accordance with the pathology, if none of the first 3 was consistent with pathological diagnosis, the case was regarded as misdiagnosed. RESULTS: (1) The top three major pathological diagnosis and causes of death were: 1) Classified according to system: 41 cases had tumor (29.1%), 25 cases had respiratory diseases (17.7%), 18 cases had infectious diseases (12.7%); 2) Classified according to disease: 18 cases had malignant histiocytosis, 12 cases had sepsis, 11 cases had lobular pneumonia. (2) The causes of deaths changed gradually. The top cause of death was respiratory diseases during the former 10 years and was tumor during the latter 10 years; the materials showed that 95 cases were 28 d-3 years old (67.4%), and some rare diseases, such as mediastinal and lung chorionic epithelioma (choriocarcinoma), and pulmonary alveolar proteinosis were found. (3) In 90 cases the clinical diagnosis was basically in accordance with the pathological diagnosis (63.8%) and misdiagnosis was found in 51 cases (36.2%). CONCLUSION: For clinical diagnosis of critically ill patients, both common and rare diseases should be considered. Analysis of autopsy materials could confirm and/or correct clinical diagnosis and is helpful to summarize clinical diagnosis experience.