“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias

Duplication of the calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. We performed a review of 2,500 computerized cases of skeletal dysplasias and syndromes with bone involvement in the International Skeletal Dysplasia Registry, searching for those cases in which a duplicate calcaneus had been recorded. We found that it was a non-random feature of three skeletal dysplasias and groups comprising thanatophoric dysplasia and the chondrodysplasia punctata and short rib (polydactyly) groups. We conclude that duplication of the calcaneus should be considered a consistent feature of these entities and may reflect a more generalized developmental defect. Received: 7 June 2000 Accepted: 3 August 2000     

Congenital diaphragmatic hernia: Where and what is the evidence?

Congenital diaphragmatic hernia (CDH) retains high mortality and morbidity due to lung hypoplasia, pulmonary hypertension and severe co-existent anomalies. This article offers a comprehensive state-of-the-art review for the paediatric surgeon whilst also describing key contributions from the basic sciences in the search to uncover the cause of the birth defect together with efforts to develop new and better therapies for CDH.     

Right congenital diaphragmatic hernia a well-known pathology?

In right congenital diaphragmatic hernia (RCDH), several clinical diagnostic pitfalls are possible and should be known to those caring for infants and children with this disorder. The records of the 18 patients at Hotel Dieu de France Hospital with a history of CDH between 1990 and 1999 were collected; those of the ten who had a RCDH were reviewed retrospectively. The mean age at diagnosis was 6 months; the male-to-female ratio was 2:3. The delay between the first symptom and the diagnosis ranged between 0 and 10.5 months (mean 4.5 months). An acute presentation was observed in four cases, consisting of respiratory distress in three; the 4th presented with gastric volvulus and intestinal obstruction. The presenting symptoms were mild in four cases; recurrent respiratory infections in three and failure to thrive in one. The diagnosis was incidental in two cases during the evaluation of respiratory symptoms attributed to an atrial septal defect. The radiologic findings provided by a chest radiograph (CxR) were sufficient to make an accurate diagnosis in eight cases and peritoneography was useful in one. In six cases, the presenting CxR had been misinterpreted as normal or acute lobar pneumonia. Pathologic findings at surgery consisted of lateral and posterior right diaphragmatic defects in nine cases; the defect was lateral and anterior in one. A hernia sac was found in seven cases; malrotation was present in three. Surgical correction was done by an abdominal approach in nine cases and a thoracic approach in one. The diaphragmatic defect was repaired by transverse closure in six cases, diaphragm plication in three and prosthetic closure in one. The postoperative outcome was uneventful in eight cases. Two patients died. Thus, RCDH seems to cause less severe symptoms than left-sided LCDH. It usually manifests beyond the neonatal period as respiratory or gastrointestinal symptoms. The diagnosis should be made easily by a CxR. The presence of a hernia sac correlated with a mild presentation. An abdominal surgical approach is preferred.     

Gallstone composition: are children different?

During a 5-year period (1997-2002) 20 consecutive children (11 boys; median age, 8 years; range, 0.3-13.9 years) underwent cholecystectomy for cholelithiasis at a regional pediatric surgical center. Multiple stones were present in 16 patients (80%). All stones were collected prospectively. Composition studies were performed after grinding an aliquot of stone and examining a layer of crushed powder by Fourier transform infrared microspectroscopy. The relative proportions of each major stone component were assessed: cholesterol, protein and calcium salts of bilirubin, fatty acids, carbonate, and hydroxyapatite. Of the 20 children, 10 had black pigment stones, 2 had cholesterol stones, 1 had brown pigment stones, and 7 had calcium carbonate stones; the latter are exceptionally rare in adults. The composition of pediatric gallstones in this series differs from that found in adults.     

Fetal echocardiography: Where are we?

This article reviews the indications, technique and benefits of fetal echocardiography. The impact of fetal echocardiography has become evident with better surgical outcome of infants with prenatal diagnosis of congenital heart disease. A major use of this technique has also been shown in the field of fetal arrhythmias. Fetal echocardiography is not only used to diagnose a specific type of arrhythmia, it is also very helpful in assessing the effect of the arrhythmia on the fetus and in guiding transplacental therapy. However it is important to remember that even experienced echocardiographers can make both false positive and false negative diagnosis of congenital heart disease. As fetal cardiac interventions including fetal cardiac surgery loom on the horizon, fetal echocardiography assumes further importance.     

Tufting enteropathy and skeletal dysplasia: is there a link?

Introduction Tufting enteropathy (intestinal epithelial dysplasia), a rare congenital enteropathy, presents in the first few months of life with chronic watery diarrhoea and impaired growth. The molecular basis for this condition is not known. We report our experience with a case of tufting enteropathy that developed an unusual skeletal dysplasia with an abnormal blood picture. After extensive investigations including repeated gastrointestinal endoscopies and biopsies, the diagnosis of tufting enteropathy was made. During the third year of her life, the patient’s height was static. A full skeletal survey was performed and demonstrated features of generalised skeletal dysplasia, some of them consistent with those of parastremmatic dwarfism. At the age of five years, she developed Coomb’s positive haemolytic anaemia and thrombocytopenia with a negative auto-antibody screen including anti-enterocyte antibodies. Conclusion There might be generalised matrix (including cartilage matrix protein), basement membrane abnormalities or both. A secondary protein leak might occur in the intestine with autosensitisation and development of autoimmune phenomena. More molecular research is needed to identify a possible link.     

Growth after ventricular septal defect repair: does defect size matter? A 10‐year experience

Aim: To evaluate whether the ventricular septal defect (VSD) size, along with the degree of preoperative growth impairment and age at repair, may influence postoperative growth, and if VSD size can be useful to identify children at risk for preoperative failure to thrive. Methods: Sixty‐eight children submitted to VSD repair in a Brazilian tertiary‐care institution were evaluated. Weight and height measurements were converted to Z‐scores. Ventricular septal defect size was normalized by dividing it by the aortic root diameter (VSD/Ao ratio). Results: Twenty‐six patients (38%) had significantly low weight‐for‐height, 10 patients (15%) had significantly low height‐for‐age and 13 patients (19%) had both conditions at repair. Catch‐up growth occurred in 82% of patients for weight‐for‐age, in 75% of patients for height‐for‐age and in 89% of patients for weight‐for‐height. Weight‐for‐height Z‐scores at surgery were significantly lower in patients who underwent repair before 9 months of age. The VSD/Ao ratio did not associate with any other data. On multivariate analysis, weight‐for‐age Z‐scores and age at surgery were independent predictors of long‐term weight and height respectively. Conclusion: The VSD/Ao ratio was not a good predictor of preoperative failure to thrive. Most patients had preoperative growth impairment and presented catch‐up growth after repair. Preoperative growth status and age at surgery influenced long‐term growth.     

Can we improve outcome of congenital diaphragmatic hernia?

This review gives an overview of the disease spectrum of congenital diaphragmatic hernia (CDH). Etiological factors, prenatal predictors of survival, new treatment strategies and long-term morbidity are described. Early recognition of problems and improvement of treatment strategies in CDH patients may increase survival and prevent secondary morbidity. Multidisciplinary healthcare is necessary to improve healthcare for CDH patients. Absence of international therapy guidelines, lack of evidence of many therapeutic modalities and the relative low number of CDH patients calls for cooperation between centers with an expertise in the treatment of CDH patients. The international CDH Euro-Consortium is an example of such a collaborative network, which enhances exchange of knowledge, future research and development of treatment protocols.