A case of congenital supratentorial tumor: Atypical teratoid/rhabdoid tumor or primitive neuroectodermal tumor?

Two embryonal CNS tumors, atypical teratoid/rabdoid tumor (AT/RT) and primitive neuroectodermal tumor (PNET), may be confused with each other and misdiagnosed. Here we report an infant with a congenital supratentorial tumor, which was detected by fetal MRI at 37 weeks gestation. On routine histological examination, the tumor was composed mainly of small undifferentiated cells, among which many rhabdoid cells and occasional sickle‐shaped embracing cells were observed. No mesenchymal or epithelial areas were evident. Our impression was that the tumor was an atypical example of AT/RT. Immunohistochemically, almost all the tumor cells were strongly positive for vimentin. However, epithelial membrane antigen was notably negative, and most of the tumor cell nuclei were clearly positive for INI1. In addition, many tumor cells were positive for neurofilament protein. There were also occasional small areas containing many tumor cells positive for glial fibrillary acidic protein. Finally, a diagnosis of PNET, with a rhabdoid phenotype and expression of neuronal and glial markers, was made. In the present case, application of INI1 immunostaining was very helpful for distinguishing PNET from AT/RT.     

成人先天性胆管扩张症手术治疗39例分析

目的探讨成人先天性胆管扩张症手术治疗的经验体会。方法1992年10月至2006年2月我院收治的成人先天性胆管扩张症39例患者均行囊肿切除。结果术后短期胆汁漏6例，无胰漏，急性胰腺炎1例，无死亡。39例经1～15年随访，随访率94．6％，2例表现轻度胆管炎，余均痊愈，无胆管炎及胆管狭窄表现。结论囊肿切除、胆管空肠Roux-Y吻合是成人先天性胆管扩张症的首选治疗。切除囊肿时，囊肿近端在尽量切净囊肿的基础上行大口吻合，可吸收线单层吻合，防止术后吻合口狭窄；囊肿远端在保证胰液引流通畅、不损伤胰管开口的基础上，尽量切净囊肿内膜。     

Urinary 17α-hydroxyprogesterone in management of 21 -hydroxylase deficiency

Objectives: The study was designed to assess the reliability of measurement of 24-hour urinary 17α-hydroxyprogesterone (17-OHP) by radio-immunoassay (RIA) as an alternative biochemical assessment for monitoring the treatment of congenital adrenal hyperplasia (CAH) due to 21 -hydroxylase deficiency (21 -OHD) and to assess the need for sample purification by column chromatography to improve assay specificity.
Methodology: Morning serum 17-OHP was measured using RIA and 24-hour urinary pregnanetriol using gas chromatography. Twenty-four-hour urinary 17-OHP was measured in samples from 17 prepubertal patients with CAH due to 21 -OHD, and 20 normal prepubertal children as controls. In 24 urine samples, RIA of 17-OHP was performed with and without column chromatography.
Results: There was a good correlation between 24-hour urinary 17-OHP and 24-hour urinary pregnanetriol (r = 0.962, P <0.01) and between 24-hour urinary 17-OHP and morning serum 17-OHP ( r = 0.955, P <0.01). There was no significant difference in the RIA of the urine samples with and without purification by column chromatography.
Conclusions: The measurement of 24-hour urinary 17-OHP is a reliable alternative for the biochemical monitoring of 21-OHD, and RIA specificity is unaffected by omission of column chromatography.     

Osteoporosis in severe congenital neutropenia treated with granulocyte colony-stimulating factor

Recombinant human granulocyte colony-stimulating factor (G-CSF) has substantially improved life expectancy for children with severe congenital neutropenia (SCN). Severe osteoporosis, reported in this population, may relate to the disease process, or be a therapeutic side-effect. This report details bone loss, quantitated absorptiometrically and histomorphometrically, in a child with SCN and vertebral collapse, and the positive response to anabolic steroid and bisphosphonate therapy.     

The dysmorphic lung: imaging findings

Congenital lung malformations are not infrequent and can be discovered in adults. It is, therefore, necessary to know their radiological manifestations in order to avoid diagnostic errors. We classify the congenital lung malformations in two main groups: dysmorphic lung and focal pulmonary malformations. We review the radiological spectrum of dysmorphic lung, based on a classification that emphasises the pulmonary abnormality, adding variants when diaphragmatic or venous abnormalities are present. In our opinion this approach allows for a rational use of advanced imaging techniques (CT, MRI). Correspondence to: Josep M. Mata.     

Type classification of anomalous pancreaticobiliary junction by ERCP

The role of endoscopic retrograde cholangiopancreatography (ERCP) in the preoperative assessment of anomalous pancreaticobiliary junction was retrospectively evaluated in 74 consecutive patients (19 males and 55 females; aged 0–80 years). Sixty-three patients had congenital biliary dilatation and 11 did not. Type classification of congenital biliary dilatation was possible by ERCP alone in 45 patients (71%). The main causes of classification failure were previous bilio-enteric anastomosis and restriction of postural changes during ERCP due to general anesthesia in pediatric patients. Classification of anomalous junction was possible in 69 patients (93%). Technical difficulty in ERCP caused classification failure in 5 patients. Neoplastic lesions were found in 12 patients (16%) and all but 1 were correctly diagnosed by ERCP. We conclude that ERCP plays an important role in the preoperative diagnosis and type classification of anomalous pancreaticobiliary junction and congenital biliary dilatation.     

小儿先天性巨结肠42例手术疗效分析

手术治疗小儿先天性巨结肠４２例，其中Ｄｕｈａｍｅｌ术９例，Ｓｗｅｎｓｏｎ术１１例，Ｓｏａｖｅ术６例，Ｒｅｈｂｅｉｎ术１０例，直肠后壁肌切除４例，直肠肛管纵切心形斜吻合术２例。术后污粪、便秘、小肠结肠炎及肛门狭窄发生率２１％。认为：手术疗效是与术前充分准备，选择适宜术式，术中精细操作，术后加强护理，精心喂养等直接相关     

Revascularization of a thrombosed aortopulmonary shunt with the use of the AngioJet thrombectomy system.

We report the use of the AngioJet F140 rheolytic catheter to recannalize an acutely thrombosed aortopulmonary shunt in a 21-year-old female with palliated, complex congenital heart disease. After extracting the thrombus that filled the entire length of the shunt, three stents were placed at sites where the lumen was compromised by distortion or thrombus. Unobstructed flow was restored to the left pulmonary artery that persisted at 1-year follow-up.     

Congenital esophageal atresia successfully treated by early ligation of a tracheoesophageal fistula and delayed repair of the esophagus in a premature infant: Report of a case

We report herein the case of a premature infant with esophageal atresia (EA) and a tracheoesophageal fistula (TEF) associated with cardiac anomalies who was successfully treated by an early ligation of the TEF following gastrostomy, and delayed repair of the esophagus. A 1212-g male was born prematurely at 31 gestational weeks, at which time he was diagnosed as having EA with TEF and patent ductus arteriosus (PDA), ventricular septal defect (VSD), and atrial septal defect (ASD). A gastrostomy was initially performed but following extubation he gradually became tachypneic. A chest roentogenogram revealed atelectasis and ground-glass appearance, and reintubation was required. Ligation of the TEF was performed 53h after his birth. Following the improvement of his respiratory condition through ventilatory support and the intratracheal administration of pulmonary surfactant, he underwent repair of the esophagus on the 6th day of life. Postoperatively, he suffered from heart failure, but was treated with peritoneal dialysis and pharmacological closure of the PDA. Weaning the infant from the ventilator proved difficult, but it was finally achieved when he had reached a weight of 2268g at 3 months of age by enteral feeding. Our experience of this case demonstrates that early ligation of TEF should be performed for a premature infant with EA and TEF before respiratory distress syndrome (RDS) has developed. If a gastrostomy is required to prevent gastric distention, it should be followed by simultaneous or immediate ligation of the TEF.