A comparative investigation of the bowel wall in gastroschisis and omphalocele: relation to postoperative complications

In gastroschisis the protruding bowel is generally covered by a fibrous coating as a result of prolonged exposure to amniotic fluid but no such coating is found on the exposed bowel loops in a ruptured omphalocele. In patients with gastroschisis, the postoperative course is often complicated by periods of hypoperistalsis. Based on studies of animal models of gastroschisis, various authors have suggested that the postoperative complications might be due to structural defects of the bowel wall. In our own experimental investigation of gastroschisis using chick embryos, we found no evidence of a structural defect of the bowel wall. With a view to clinical substantiation of our experimental findings, we conducted a comparative investigation of patients material, involving 10 cases of gastroschisis, 5 cases of ruptured omphalocele, and 9 cases of intact omphalocele. The investigation revealed an entirely normal structure of the bowel wall in all 10 cases of gastroschisis. On the serosa we noted an inflammation infiltrate rich in collagen fibers, frequently containing squamous cells (vernix) and lanugo. In the cases of ruptured omphalocele, the bowel wall specimens revealed a subacute inflammatory reaction. No major abnormalities were found in the bowel wall of patients with an intact omphalocele. Normal development of the autonomic nervous system was found in all patient material. Severe ischemic changes of the bowel wall were found in 4 of the gastroschisis cases and these were the 4 patients who suffered from postoperative hypoperistalsis. Thus the complications occurring during the postoperative phase of gastroschisis are most probably due to ischemic bowel damage.     

Prenatal ultrasonographical features of limb body wall complex: a review of etiopathogenesis and a new classification

Limb body wall complex is a spectrum of multiple severe anomalies. The etiopathogenesis and clinical classification are still under discussion. In our article, while reviewing previous etiopathogenetical hypothesis, we propose a new clinical classification regarding embryological theories and pheneotypical features. According to the Van Allen diagnostic criteria, the findings of 6 affected fetuses are presented. Prenatal diagnosis was performed in 5 of 6 cases. Craniofacial malformations were present in only 1 case. Thoracic defect and abdominoschisis (either infraumbilical or supraumbilical) associated with visceral eventration, placental-umbilical cord anomalies, and limb defects were detected in the other 5 cases. Aberrant development of each of the 4 embryonic folds (cephalic, 2 lateral abdominal, and caudal) associated with faulty umbilical ring development and placental formation were considered responsible for development of various malformations. In previous clinical classifications, existence or absence of the craniofacial malformation was utilized as an unique discriminating criterion while multiple anomalies exist. In this report, we propose a new clinical classification concerning almost all anomalies caused by defective placental attachment and maldevelopment of the 4 folds.     

A thoracic wall lipoblastoma in a 3-month-old infant: A case report and review of the literature

Lipoblastoma is a rare benign tumor of adipose tissue seen almost always in infancy and early childhood. Lipoblastoma is present in 2 forms which are pathologically identical: circumscribed and diffuse. It is typically located in the extremities, and less frequently in head-neck region, trunk, and various organs. Lipoblastoma is a tumor with good prognosis with no reported metastases, despite its potential for local invasion and rapid growth. Our patient was a 3-month-old boy who was brought to our clinic for rapidly growing mass in the right hemithorax. With the aim of both diagnosis and treatment, the lipomatous mass was removed by local resection. In addition to the patient's age, histologic and cytogenetic analyses assisted the diagnosis of diffuse lipoblastoma. In the postoperative period, the thorax wall was unaffected, and after 6 years of follow-up no recurrence was observed. In the English literature, 8 cases of thoracic wall lipoblastoma have been previously reported, and only 3 of diffuse form. Here, we report, at our knowledge, the fourth case of thoracic diffuse lipoblastoma, in which cytogenetic analysis showed a previously undescribed karyotype aberration involving chromosomes 8, 13, and 16.     

Infantile neuroblastoma of the urinary bladder detected by hematuria

Malignant tumors of the urinary bladder in infants are extremely rare. Rhabdomyosarcoma is the most likely tumor in this site, whereas neuroblastoma of the urinary bladder is exceedingly uncommon and is not listed as a differential diagnosis for tumors of this site. We present a case of neuroblastoma arising from the dome of the bladder wall, detected by hematuria. Only six cases of neuroblastoma originating from the bladder, including the present case have been reported. Of the cases, five arose from the dome of the bladder wall. In this report, the differential diagnosis of bladder tumors in children is discussed. A diagnosis of neuroblastoma should be taken into consideration, especially in the case of tumors arising from the dome of the bladder wall despite an uncommon location.     

Alveolar soft part sarcoma occurring on the abdominal wall of a 2-year-old child

Alveolar soft part sarcoma (ASPS) is a rare soft tissue malignant neoplasm that affects young people. It can occur in any region of the body and at any stage of development. But ASPS on the abdominal wall is rarely reported. However, a few cases were reported in children under the age of 10 years. In this study we report a case of ASPS that occurred on the abdominal wall of a 2-year-old patient.     

Prenatal MRI evaluation of limb–body wall complex

Background

The sonographic (US) features of limb–body wall complex have been well documented; however the literature regarding the findings on MRI in limb–body wall complex is scant.

Objective

To characterize the prenatal MRI features of limb–body wall complex.

Materials and methods

We performed a retrospective review of all MRI scans of fetuses diagnosed with limb–body wall complex at our institution from 2001 to 2011. Fetuses without correlating US scans or follow-up information were excluded. Three pediatric radiologists blinded to the specific US findings reviewed the prenatal MRIs. Images were evaluated for the organ location and attachment, the body part affected, characterization of the body wall defect, and spinal, limb and umbilical cord abnormalities.

Results

Ten subjects met inclusion criteria. MRI was able to detect and characterize the body part affected and associated abnormalities. All fetuses had ventral wall defects, a small thorax and herniated liver and bowel. The kidneys were extracorporeal in three cases. The extruded organs were attached to the placenta or the uterine wall in all cases. Abnormal spinal curvatures of various degrees of severity were present in all cases. Eight cases had a short, uncoiled cord. Limb anomalies were present in 6 of the 10 cases.

Conclusion

We illustrate the common fetal MRI findings of limb–body wall complex. The prenatal diagnosis of limb–body wall complex and the differentiation of this defect from treatable abdominal wall defects are crucial to providing appropriate guidance for patient counseling and management.     

Management of tumors of the chest wall in childhood: a review

Chest wall tumors in childhood are major challenges with respect to diagnostic workup and treatment. Incidence rate is less than 1 per 1,000,000 and various benign and malignant diseases are noted. From the malignant diseases, Ewing tumors and rhabdomyosarcoma tumors are most often seen. Depending on diagnosis, staging, and age, therapy has to be tailored for each patient, which should be discussed in a multidisciplinary team setting. Radical resection is in most cases the major component of treatment. Use of chemotherapy depends on the diagnosis. In soft-tissue tumors, previously considered to be chemotherapy insensitive, favorable results are currently reported. The role of radiotherapy is debated owing to its pronounced late sequelae in children, but should be added when adequate margins cannot be achieved by surgery.     

新生儿十二指肠梗阻诊断与治疗探讨

为探讨新生儿十二指肠梗阻的诊断与治疗方法，回顾性分析了57例年龄1天至3个月的十二指肠梗阻病例临床表现和手术治疗疗效。57例中早产儿和未成熟儿占14．0％；病种包括先天性肠旋转不良40例次，十二指肠闭锁狭窄16例次，环状胰腺6例次，肠系膜上动脉综合征1例次，其中6例（11．5％）有2种原因的梗阻、手术方式按病理改变而定，包括肠旋转不良Ladd手术40例次，隔膜切除、十指肠成形12例次，十二指肠十二指肠菱形吻合2例次，十二指肠空肠侧侧吻合9例次。有6例术中将鼻胃管插入至空肠作为“经吻合口的十二指肠支架管”，并加作腹壁筋层减张缝合。术后主要并发症有腹壁切口裂开6例，十二指肠梗阻4例（吻合狭窄3例，漏诊隔膜1例），肺炎3例。“经吻合口的十二指肠支架管”加腹壁筋膜层减张缝合术6例术后无并发症。全组死亡4例，病死率7．0％（4／57例）。提示新生儿十二指肠梗阻的主要病因是先天性肠旋转不良，十二指肠闭锁狭窄和环状胰腺，部分病例有2种原因，主要手术并发症是腹壁切口裂开和吻合口狭窄。“经吻合口的十二指肠支架管”可避免隔膜被遗漏和吻合口狭窄，腹壁筋膜层减张缝合可避免切口裂开。     

Reference Values for Valve Circumferences and Ventricular Wall Thicknesses of Fetal and Neonatal Hearts

To evaluate valvular stenosis, cardiac dilation, and/or cardiac hypertrophy, measurements of valve circumference and ventricular wall thickness are of importance. To establish reference values in fetuses and neonates, we reviewed pathology reports at Women and Infants Hospital from 1978 through 2002 and found measurements in 776 cases that were suitable for analysis. Gestational ages (GA) ranged from 15 to 42 wk. The tabulated data include the mean, standard deviation, and 10th and 90th percentile values for foot length, body weight, body length, heart weight, valve measurements, and ventricular wall thicknesses for each week of GA. In cases in which clinical dating is not reliable, we estimated the GA by the mean value nearest that of the observed foot length. All linear measurements increased in a linear fashion throughout the second and third trimesters of development. The circumferences of cardiac valves at all ages, in descending order of magnitude, are: tricuspid, mitral, pulmonary, and aortic. Mean left ventricular (LV) wall thickness is greater than mean right ventricular (RV) wall thickness throughout gestation. The tables offer a means of determining valvular stenosis, or cardiac dilation and/or hypertrophy, based on various gestational ages.     

Laparoscopic-assisted surgical reconstruction of a rare congenital abdominal wall defect in two children misdiagnosed with prune-belly syndrome

PurposeAbdominal wall laxity is typically associated with prune-belly syndrome (PBS). Incomplete forms of PBS have been rarely reported with only the abdominal wall laxity. Herein, we describe a rare congenital abdominal wall defect that has been confused with PBS and illustrate the laparoscopic-assisted surgical technique used for reconstruction.Materials and methodsTwo boys with symmetrical, bilateral absence or hypoplasia of the internal and external oblique muscles and no genitourinary abnormalities underwent a laparoscopic-assisted abdominal wall reconstruction utilizing the technique previously described by Firlit. Each patient had a Ct scan which confirmed the absence of the oblique muscles. In one patient EMG data confirmed no electrical activity of the obliques. Radiologic evaluation of the urinary tracts revealed no abnormalities. The abdominal wall was plicated utilizing bilateral subcostal incisions.ResultsBoth patients had excellent cosmetic and functional results with no weakness or bulging of the lateral abdominal wall and improvement of associated symptoms.ConclusionsWe believe these two cases and their congenital abdominal wall defects are a rare and often misdiagnosed muscular deficiency separate from PBS. The novel laparoscopic-assisted surgical technique illustrated is feasible and highly successful for these and possible other patients with similar rare congenital abdominal wall defects.     

Pathogenesis of the prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia

Abdominal muscle deficiency, urinary tract abnormalities, and cryptorchidism are the three major features of the prune-belly syndrome, also referred to as triad syndrome or Eagle-Barrett syndrome. The etiology is unclear and the pathogenesis a subject of continuing debate. Clinical and pathologic experience with seven cases of prune-belly syndrome is reviewed. Findings indicate that the urogenital anomalies can be attributed to a functional urethral obstruction which in turn is the result of prostatic hypoplasia. The histology of the abdominal wall is that of atrophy-ie, the degeneration of already formed muscle--and not of primitive muscle. This observation supports the theory that the abdominal muscle hypoplasia is a nonspecific lesion, resulting from fetal abdominal distension of various causes. Transient fetal ascites may be an important feature of the prune-belly syndrome.     

Nested amplification protocol for the detection of Mycobacterium tuberculosis

Several methods for rapid diagnosis of tuberculosis have been devised through DNA amplification. However, the chemically strong cell wall of the species, the presumptively low numbers of organisms and their uneven distribution in clinical samples, and the lack of a "gold standard" for diagnosing tuberculosis, have hindered the routine clinical use of this method. In a pediatric patient group, these factors are more perplexing. To circumvent these problems, we made use of nested amplification and developed a standard protocol for extracting DNA from various forms of clinical samples which were suitable to our clinical laboratory. It is our impression that the overall sensitivity, including technical bias accompanying this method, is equal to, or at least greater than, that of culture. Most notably, the rapidity in obtaining results and the simplicity in handling, storage and transfer of samples are the principal advantages of this method.     

Transient Hypertrophic Cardiomyopathy in Neonates After Acute Fetal Distress

We report three cases of transient myocardial hypertrophy, diagnosed by echocardiography, occurring between the second and seventh days of life in neonates with initially normal ventricular myocardial wall thickness. The three term neonates had perinatal injury with acute fetal distress. In all three cases electrocardiographic and biologic signs of myocardial ischemia were present. The first echocardiographic results showed abnormalities in systolic or diastolic left ventricular function, without hypertrophy of the walls. The hypertrophic cardiomyopathy (HCM) occurred between days 2 and 7 and affected first the interventricular septum and the free wall of the right ventricle. The left ventricular posterior wall subsequently became abnormal, resulting in severe overall myocardial hypertrophy, which finally disappeared in all three cases between 1 and 5 months of life. Such observations of early severe and transient HCM have not been previously reported. We believe it is a consequence of myocardial ischemia due to acute fetal distress. The prognosis of this type of HCM is good, in contrast to that of other primitive HCM occurring in neonates.     

Malaria and pregnancy. Report of a case of congenital Plasmodium falciparum malaria

We report a case of congenital malaria due to a chloroquine-resistant strain of Plasmodium falciparum acquired in Mali. Ours is the first report of chloroquine-resistant congenital malaria in this part of Africa. We recall the various pathophysiologic, diagnostic and therapeutic features of this disease that should be considered in every neonate born to a mother who may have malaria. Although such cases are infrequent, we also discuss the very serious problems, mainly therapeutic, that they raise in several countries where they are endemic (South-East Asia and Africa particularly).     

Baby of a phenylketonuric mother: Inferences drawn from a single case

Reports on pregnancy in phenylketonuric women are rare, but fetal brain damage has been well documented and attributed to the mother''s biochemical disturbance. Reports on fetal health after the treatment of phenylketonuria (PKU) in pregnancy are even rarer. Since the treatment of PKU girls is often stopped or relaxed at various prepubertal ages, pregnancy may occur soon in apparently normal girls who have high phenylalanine levels and PKU. In view of the scarcity of information, implications are cautiously suggested from the experience gained of one case. More information is needed urgently, not about the effects of PKU alone, but also of hyperphenylalaninaemia. The present case suggests that it is possible for a fetus to escape malformation, brain damage, and growth failure if maternal dietary treatment is good from about the 20th week of gestation. It would be unwise, however, to accept this finding as holding true for all cases.     

Unusual cardiac malformations in conjoined twins: thoracopagus twins with conjoined pentalogy of Cantrell and an omphalopagus twin with atretic ventricles

Two unrelated cases of conjoined twins were found to have cardiac malformations that apparently have not been reported previously. In one case, thoracopagus twins had an extensive thoracoabdominal wall defect that resulted in ectopia cordis of a conjoined heart along with evisceration of the shared liver and intestine along with one spleen. These malformations, accompanied by defects in the sternum, diaphragm, and supraumbilical abdominal wall, constitute a conjoined pentalogy of Cantrell. In the second case, the heart of one of omphalopagus twins consisted of a solid ventricular mass with only a minute aortic cavity but no atrioventricular communication-an ineffective heart that could develop only in a conjoined or chorioangiopagus twin. In both cases, a common atrium lay in the primitive (embryologic) position caudal to the ventricles.     

Intramedullary neurenteric cyst presenting as infantile paraplegia: a case and review

The authors report a case of a 3-month-old male child with paraplegia in whom magnetic resonance imaging (MRI) revealed a nonenhancing intramedullary cystic lesion extending from the level of D1 to D7 without any other associated anomaly. Intraoperatively, these findings were confirmed and the spinal cord was found to have splayed circumferentially into a papery thin rim. The patient underwent marsupialization of the cyst with subtotal excision of the cyst wall. Histopathological examination revealed ciliated pseudostratified columnar epithelium consistent with the diagnosis of a neurenteric cyst. Intramedullary neurenteric cysts are rare developmental malformations, and out of the 13 previously reported cases, only 3 were evaluated by MRI. This is the first case report in the literature of an intramedullary neurenteric cyst presenting as infantile paraplegia. In the present report, the embryology, etiopathogenesis, radiological imaging and management of this rare clinical entity are discussed and a detailed literature review is presented.     

Haemorrhagic cystitis as a complication after allogenic bone marrow transplantation.

OBJECTIVE: The main objective of the following work is to present our own material and the ways in which we have dealt with haemorrhagic cystitis (HC) following allogenic bone marrow transplantation in children. MATERIALS AND METHOD: From 1994 to 2002, allogenic transplantation of haematopoietic cells was performed in 129 children at the Oncological and Haematological Child Clinic, Wroclaw University of Medicine. The procedure was carried out in patients with neoplastic diseases. In 33 cases, HC symptoms of various intensity were observed. The intensity of the symptoms was evaluated according to Arthur's four-point scale. To confirm the diagnosis USG was carried out in each case. Special attention was given to the ultrasonographic structure of the bladder wall. Cartoni's technique was followed in the examination. RESULTS: Out of 129 children who underwent allogenic transplantation of haematopoietic cells 33 (20.75 %) revealed HC symptoms. The symptoms occurred between the 2nd and the 124th day after transplantation (mean 29 days). The treatment included antiviral medicines, estrogens, reduction of immunosuppression and mechanical urological procedures. The children diagnosed with 2nd grade disease and higher were catheterised and diuresis was forced by the administration of larger amounts of liquids intravenously. Antihaemorrhagic drugs and vitamin K were also given. Blood was substituted if needed as were blood derivatives. Eighteen children with massive haematuria with clots underwent catherisation with a suprapubic catheter so as to continuously rinse the bladder. In 8 cases tamponade of the bladder occurred. The clots were removed from the bladder during cystoscopy under general anaesthesia. Twelve children died from HC. This amounts to 36 % of all the cases identified as HC and 9 % of all the children who underwent allogenic marrow transplantation. CONCLUSIONS: In conclusion it must be emphasised that HC in children after allogenic transplantation of haematopoietic cells is an extremely severe disease, which, if not cured, is terminal. The decision whether to perform embolisation of internal iliac arteries or to remove the bladder when non-radical methods have been exhausted, is worth considering.     

Intestinal aganglionosis: a histologic and acetylcholinesterase histochemical study

Varying results have been reported with the use of acetylcholinesterase (AchE) staining to diagnose Hirschsprung's disease in rectal suction biopsy. We analyzed the histology and AchE staining of rectal biopsies from 10 patients with documented intestinal aganglionosis and 57 patients with ganglionic bowel. The results show that histologic identification of submucosal ganglion cells is reliable in excluding Hirschsprung's disease and that the absence of ganglion cells in an adequate suction biopsy is highly suggestive of intestinal aganglionosis. Four AchE staining patterns were recognized; the staining patterns overlap in some patients who have and some who lack ganglion cells. The AchE staining pattern did not correlate with sex or age of the patients, or with the length of the aganglionic segment. The acetylcholinesterase stain is not a reliable method of making or excluding a diagnosis of intestinal aganglionosis except when AchE-positive fibers are increased in both the lamina propria and muscularis mucosae. This AchE staining pattern occurred in 6 of our 10 patients with Hirschsprung's disease. In addition, eight segments of aganglionic colon were studied that included 2 cases of total colonic aganglionosis in which hypertrophic, AchE-positive nerve fibers were absent in all layers of bowel wall. This last finding suggests that an abnormality in the preganglionic cholinergic fiber or extrinsic neuron is involved in the pathogenesis of this unusual form of total colonic aganglionosis.