Double congenital bronchoesophageal fistulae in an adult

We report adult congenital bronchoesophageal fistula with both symptomatic fistula and asymptomatic one. A 56-year-old woman with a history of cough after drinking fluids was diagnosed as bronchoesophageal fistula by upper gastrointestinal series that showed a diverticulum in the middle portion of the esophagus with a fistula between the esophagus and right lower lung. Esophagoscopy revealed an orifice of the fistula located 27 cm from the incisors. Computed tomography showed chronic inflammatory change with bronchiectasis in the S6 segment of the right lung. The patient underwent video assisted thoracic surgery that identified two fistulae without missing a symptomatic one, and both were successfully resected. The fistulae were lined by squamous epithelium and smooth muscle without evidence of malignancy, infection or chronic inflammation that were histologically compatible with congenital fistulae.     

主动脉缩窄及主动脉弓离断的电子束CT诊断

目的：探讨电子束CT诊断先天性主动脉缩窄和主动脉弓离断的价值。材料和方法：共10例病人，年龄6—18岁，均经手术证实。对所有患儿行EBCT增强扫描，并对图像行三维重建。结果：10例病人术前均得到正确诊断，其中8例为主动脉缩窄，2例为主动脉弓离断。EBCT均显示了全部8例主动脉缩窄及其缩窄的程度、形态，并显示缩窄处与左锁骨下动脉的关系。其中6例（75％）为局限性狭窄，2例（25％）形成中-重度长管状狭窄。合并畸形有：3例合并动脉导管未闭，1例合并室间隔缺损，1例合并肺动脉狭窄，1例合并二尖瓣狭窄，2例同时合并动脉导管未闭和室间隔缺损。2例主动脉弓离断病例，均合并有动脉导管未闭、室间隔缺损和肺动脉狭窄。EBCT均显示升主动脉与降主动脉呈分离状。结论：EBCT作为一种无创性检查方法，对先天性主动脉病变的诊断有重要价值，并能同时显示合并的胸部大血管异常。     

Ocular findings in familial adenomatous polyposis

Background: Retinal pigment epithelium (RPE)lesions are predictive congenital phenotypic markersfor familial adenomatous polyposis (FAP). Thisprospective screening study aims at assessing theincidence and significance of these lesions in FAPpatients and their family members.Methods: Sixty-two members from three familiesincluding five patients with the diagnosis of FAP havebeen ophthalmologically surveyed. All RPE lesions weredocumented with fundus photography and fluoresceinangiography was performed in 13 subjects.Sigmoidoscopy and/or radiological examination wereperformed annually in 9 family members with typicalRPE lesions during 4 years to allow early diagnosis ofFAP.Results: Typical RPE lesions were present infive FAP patients and 15 family members.Telangiectatic dilatations in the retinal peripherywith small dot-like hemorrhages were detected in 6subjects from 3 families These lesions wereparticularly evident on fluorescein angiography.Annual colon analysis showed polyps in 3 out of 9subjects who were positive for RPE lesions.Conclusion: RPE lesions are valuable as aclinical marker in predicting FAP. The co-existingperipheral vascular alterations which have not beenreported before, are probably related to FAP.     

巢式PCR检测先天性心脏病心脏石蜡标本中B19病毒的感染

目的：探讨微小病毒Ｂ１９与先天性心脏病（ＣＨＤ）的相关性及可能致畸机理。方法：采用病例对照研究，病例组为２９例ＣＨＤ尸解心脏组织，对照组为３０例同期非先天性畸形尸解心脏组织，应用巢式ＰＣＲ扩增Ｂ１９－ＤＮＡ，单纯疱疹病毒（ＨＳＶ），兔弓形虫（ＴＯＸ），巨细胞病毒（ＣＭＶ），结果：２９例ＣＨＤＢ１９－ＤＮＡ５例阳性，全瓿对照组为均阴性（Ｐ＝０．０２３７），ＨＳＶ，ＴＯＸ两组中均阴性，ＣＭＶ在两组中均     

Congenital healed cleft lip

Congenital “healed” cleft lip (CHCL) is an unusual anomaly including a paramedian “scar” of the upper lip, which appears as if a typical cleft lip has been corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion, and “collapsed” nostril. Twenty-five CHCL cases are presented, eighteen of which were an isolated malformation found among the 3,950,715 births examined in two similar birth defect registries: ECEMC in Spain and ECLAMC in Latin America. Like open cleft lip, of which it seems to be a variant, CHCL is most frequently seen among males (14/18 isolated cases), it preferentially affects the left side (10/18 cases), and it segregated together with cleft lip in one family. The five CHCL cases with other congenital anomalies included: two cases with hydrocephalus, two VACTERL associations, and one atypical oblique facial cleft infant with single umbilical artery. CHCL may result from a defective fusion of the frontonasal and maxillary processes (before week 7 of embryonic life), or from a spontaneously repaired open cleft lip, later on. In either way, these cases heal with a visible scar, and the pre-occurrence of CHCL in two families suggests a familial predisposition to this phenomenon. © 1995 Wiley-Liss, Inc.     

Congenital esophageal stenosis presenting as noncardiac,esophageal chest pain

Summary A case of a 31-year-old female with congenital esophageal stenosis presenting with symptoms of chest pain caused by esophageal dysmotility is described. The involved segment in congenital esophageal stenosis has a characteristic thickening of the muscularis propria layer, as seen by EUS examination. In these patients, symptoms of dysphagia can be managed with esophageal dilation and noncardiac esophageal chest pain responds to pharmacotherapy with diltiazem.The opinions and assertions contained herein are the private ones of the authors and are not to be construed as official policy or reflecting the views of the Army or the Department of Defense.     

Symptomatic liver cyst: Special reference to surgical management

We conducted a retrospective study of 14 patients with symptomatic liver cysts to evaluate current therapeutic interventions for this condition. Abdominal pain (n = 7) or abdominal mass (n = 5) were the most frequent presentations. Three patients also had renal cyst. Percutaneous aspiration with ethanol sclerotheraphy was carried out in 4 patients and all cysts so treated diminished in size, with relief of the symptoms. One patient was treated by aspiration only and re-retension occurred. Cystectomy was performed in 2 patients, unroofing in 5, and fenestration in 2 patients. All patients gained relief of symptoms, with no recurrence of symptoms. Computed tomography revealed that the cysts were diminished or were no longer observable after all the treatments. Our experience indicates that unroofing, fenestration, and cystectomy are safe and suitable procedures for treatment of the condition. Ethanol sclerotherapy may be a feasible alternative to surgical intervention in selected patients. Received for publication on July 23, 1997; accepted on Dec. 25, 1997     

Volume of tarsal bones in congenital clubfoot

To elucidate the growth of the tarsal bones in congenital clubfoot, relative to the growth of these bones in the unaffected feet and compared to growth in the feet of normal volunteers, we used a computed tomography (CT) scanner to measure the volume of all tarsal bones. The subjects of the study were 10 adults (7 men and 3 women) with unilateral congenital clubfoot (average age 20 years and 1 month). As controls, we examined 11 healthy volunteers. We calculated the ratio of the volume of each tarsal bone to the total bone volume and the ratio of the volume of each tarsal bone in clubfoot to the corresponding bone in the unaffected foot. The volume ratio of each tarsal bone was compared between clubfeet and unaffected feet because the differences of each tarsal bone ratio between the normal foot group and unaffected foot group were not significant. In the clubfeet (n=10), the talus and the medial cuneiform bones were smaller than those in the unaffected feet (n=10) but the cuboid bone was larger. The growth of the navicular did not differ from as that in unaffected feet. Our results suggested hypoplasia on the medial side of the foot in adult patients with congenital clubfoot. The 3 patients who had undergone medial release showed particularly marked hypoplasia of the medial side. In congenital clubfoot cases with severe deformities who had undergone wide soft-tissue release operations, there were clear growth suppressions in the talus and the medial cuneiform. We could not determine whether the cause of the growth suppression was the hypoplastic nature of tarsal bones themselves or the surgical obstacles to tarsal bone growth.