Congenital diaphragmatic hernia: associated anomalies and antenatal diagnosis

This retrospective study reviews the medical records of 77 fetuses and babies with congenital diaphragmatic hernia (CDH) referred to two hospitals in Detroit from 1986 through 2000. The aims were to examine the effects on outcome of multiple variables, especially the type of CDH, associated anomalies, and ultrasound prognostic parameters. Ultrasound measurements of head (HC), chest (CC), and abdominal circumferences (AC) were obtained from videotapes. ANOVA and chi-square analysis were used to determine statistical significance between groups and proportions. Eighty-nine percent (65/73) of pregnancies resulted in live births, and 54% (35/65) of patients survived past 30 days. Liveborn patients with low APGAR scores were less likely to survive. Forty-three percent (30/70) had major associated anomalies, with cardiac anomalies constituting about 52% (33/64) of the major associated anomalies. Seventy percent of patients with isolated CDH survived versus 36% of patients with both CDH and cardiac anomalies. Sixty-seven percent (8/12) of fetuses antenatally diagnosed before 25 weeks of gestation survived past 30 days of birth. The survival rate of right-sided CDH with liver herniation was 80% (8/10), compared with 29% (4/14) for left-sided CDH with liver herniation (p=0.088). There was a significant linear relationship (r=0.603, p =0.029) between CC/AC and CC/HC among patients with CDH; survivors had higher CC/AC and CC/HC values than nonsurvivors. These results support the utility of CC/AC and CC/HC measurements and the presence of liver herniation as important prognostic factors that can be used in antenatal counseling and in planning clinical trials.     

Oesophageal atresia and associated anomalies: a plea for uniform documentation

Although associated congenital anomalies are the most significant factor affecting prognosis in babies with oesophageal atresia (OA), there is considerable variation in the methods by which they have been documented. To facilitate a uniform approach to the reporting of associated anomalies, we have analysed the data from our own experience and studied the methods used by other workers. During the period 1948–1991, 618 patients with OA and/or tracheo-oesophageal fistula were admitted to the Royal Children's Hospital, Melbourne. Concurrent congenital abnormalities were present in 344 (56%), the most frequent being cardiovascular (20.7%); urinary (21.6%); gastrointestinal (22.7%); and orthopaedic (15.7%). Not only have reports of the incidence of associated anomalies in OA involved a wide variety of classifications, but also they have varied in the extent to which co-existent lesions were sought by investigation. These factors, in addition to the criteria used for inclusion and the method of their documentation, have resulted in marked discrepancies in the apparent incidence of specific anomalies, and made valid comparisons between series difficult or impossible. We advocate a simple approach whereby: (1) data should be collected prospectively; (2) routine investigation should include renal ultrasound and echocardiography (as a minimum requirement); (3) the number of associated anomalies should be reported as a percentage of the total cohort of patients, rather than as a percentage of the anomalies themselves; (4) true congenital anomalies should be recorded separately from acquired conditions; and (5) the wide variation in the impact of associated abnormalities on the management and long-term outlook in OA should be recognized. Offprint requests to: N. A. Myers     

Abdominal tuberculosis in children — surgical management

During the period 1980–1989, 95 patients, mean age 5 years, with abdominal tuberculosis (ATB) were seen at the Red Cross Children's Hospital. Eighty per cent were malnourished. Apart from fever, loss of weight, and failure to thrive, symptoms of abdominal pain, vomiting, and diarrhoea predominated. Abdominal distension (86%) and a palpable mass (57%) were the most common physical findings. Sixty-three per cent had radiological evidence of chest disease. Abdominal ultrasound was useful in identifying ascites and distribution of lymph node masses. Fifty of the 95 patients were managed on the surgical unit and the predominant involvement was: peritoneal 21, nodal 15, enteric 11, and undetermined 3. Thirteen of this group developed one or more complications — perforation (4), obstruction (7), abscess or fistulae (5), and haemorrhage (1). Surgery involved diagnostic laparotomy, extra-abdominal biopsy, and management of the complications. Emergency surgery was conservative. Definitive surgery for stricture-plasty, resection, and stoma closure was delayed at least 8 weeks to allow for chemotherapeutic effect. Uncomplicated TB responded rapidly to therapy. There were no deaths in this group. Thirty-seven of the 45 medical cases made an uncomplicated recovery on anti-TB therapy. Three died due to generalised disease, 5 had complications (chylous ascites 2, protein-losing enteropathy 3) and 3 had relapse of disease due to poor compliance. The morbidity and mortality of this ubiquitous disease can be greatly reduced by timely diagnosis, which often requires early recourse to diagnostic laparotomy, and appropriate surgery and supportive care for complicated disease. Offprint requests to: A. J. W. Millar     

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients

Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the “classical” presentation of the condition with cardiac manifestations, hypocalcaemia and velopharyngeal insufficiency, a much wider range of clinical presentations can characterise this syndrome. Anal anomalies, comprising imperforate anus and symptomatic anal stenosis, are a rarely described presentation of this multisystem disorder. In this report we document three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.     

Duodenal atresia: associated anomalies,prenatal diagnosis and outcome

Background  The diagnosis of duodenal atresia is commonly made prenatally, either as an isolated lesion or due to its association with other chromosomal abnormalities (Robertson et al. in Semin Perinatol 18:182–195, 1994; Hemming and Rankin in J Prenat Diagn 27:1205–1211, 2007). The aim of this study was to describe the prevalence of associated anomalies, prenatal diagnostic accuracy and survival of cases of congenital duodenal atresia in our institution. Methods  All cases of duodenal atresia registered with our local congenital anomaly register over a 10-year period, 1995–2004 inclusive, were studied, including those resulting in termination of pregnancies, stillbirths, intrauterine deaths and neonatal deaths. To ensure high-case ascertainment, data were cross checked with prenatal ultrasound, cytogenetic laboratory, pathology department and neonatal surgical data base. Data were analysed for associated anomalies, accuracy of prenatal diagnosis and neonatal outcomes. Results  A total of 65 patients were initially diagnosed as having duodenal atresia, of these 4 were subsequently excluded (1 postnatal normal bowel and 3 high jejunal atresias). In the remaining 61 cases, 35 (57%) had an association with other congenital abnormalities and 26 (43%) were isolated anomalies. Thirty-five were male and 26 female (M:F = 1.4:1). Twenty-one out of 29 (72%) patients prenatally diagnosed, compared with 14 out of 32 (44%) patients diagnosed postnatally had associated anomalies. Duodenal atresia was suspected on routine prenatal ultrasonography at 20-week gestation in 33 cases and confirmed in 29 (48%) cases with 4 false-positive diagnoses (1 normal bowel and 3 high jejunal atresias). No prenatal diagnosis was made in 32 (52%) babies. Of the 61 cases, 53 were live births with 2 early neonatal deaths (1 cardiac and 1 VACTERL), 5 terminations, 2 intrauterine deaths and 1 stillbirth (Fig. 3). Overall neonatal survival was 96% (51 cases). Mortality in the group diagnosed prenatally was 34 % (10 cases). Conclusion  This study shows an overall increased association of duodenal atresia with Down’s syndrome. In the group diagnosed prenatally, mortality as well as the association with other congenital anomalies was found to be higher. We have demonstrated a greater prenatal diagnostic accuracy, but confirm postnatal outcomes similar to previous studies.     

Idiopathic nephrotic syndrome in New Zealand children, demographic, clinical features, initial management and outcome after twelve-month follow-up: results of a three-year national surveillance study

Aim: To describe the demographic, clinical features, steroid response, histopathology and complications of all children diagnosed with idiopathic nephrotic syndrome (INS) in New Zealand over a 3-year period. Methods: A questionnaire seeking relevant clinical information was sent to all paediatricians who reported a new case of nephrotic syndrome to the New Zealand Paediatric Surveillance Unit. A follow-up questionnaire was sent to reporting paediatricians after the first 12 months of follow-up. Results: The incidence was 1.9 children per 100,000 under age 15 years. There was no significant difference in INS between ethnic groups. Approximately 80.4% were steroid responsive with median time to response of 8.4 days and mean time to relapse was 15.1 +/- 12.1 weeks (10.1-19.8 95% confidence interval). Follow-up at 12 months after diagnosis showed that two-thirds were either steroid dependent or frequent relapsers. Steroid resistance patients had a more variable course with some developing chronic renal failure and other remaining persistently nephrotic. Conclusion: The incidence and outcome of children with INS are similar to overseas studies. A large variety of steroid treatment regimens were noted. Current evidenced-based guidelines to treat INS were used infrequently.     

Congenital malformations in Kumasi,Ghana: prognosis for surgical cases

One hundred sixty-one cases of congenital anomalies admitted to the special ward for sick children over a period of 4 years have been analyzed with regard to incidence of individual diagnoses, age at admission, place of delivery, and overall and postoperative mortality. The malformations involved the abdomen, gastrointestinal and digestive systems (40.4%), head and neck (19.9%), vertebral column and extremities (28.0%), and urinogenital system (6.2%). The most frequent were anorectal malformations (26.7%), followed by cleft lip and cleft palate (14.3%), spina bifida (13.7%), exomphalos (9.3%), and talipes (7.5%). In all, 143 cases (88.8%) should have been amenable to surgery, but only 86 (53.4%) were operated upon. An overall high mortality (33.5%) was attributed to places of delivery with inadequate medical facilities, delayed referral to more competent health institutions, poor general condition of the patients, associated anomalies, and complications. Postoperative mortality was also high for the same reasons. Institution of specific registry or monitoring programs and improvement of medical facilities is recommended to enhace the prognosis for children with congenital malformations. Offprint requests to: D. nii-Amon-Kotei     

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency,associated cardiovascular anomalies,and outcome following cardiac surgery

The association of conotruncal heart defects with 22q11.2 chromosomal microdeletions is well established. However, it is not clear whether particular types of conotruncal malformations or additional cardiovascular anomalies are associated with microdeletions. In addition, cardiac surgery outcome in children with conotruncal defects and del22q11.2 is not well described. We prospectively enrolled 214 children with conotruncal defects: 126 with tetralogy of Fallot (TOF), 18 with pulmonary atresia-ventricular septal defect (PA-VSD), 15 with truncus arteriosus communis (TAC) type I, one with interrupted aortic arch (IAA) type B, and 54 with the transposition of great arteries, who were consecutively hospitalized at the Pediatric Cardiology Department between 2003 and 2005. 22q11.2 microdeletion was identified by fluorescence in situ hybridization. The postoperative course following cardiac surgery was compared in patients with TOF and its more severe form, PA-VSD, with/without del22q11.2 (groups A and B) and TAC with/without del22q11.2 (groups C and D). In 15 of 214 patients, 22q11.2 microdeletion was diagnosed (in 11 with TOF/PA-VSD, in three with TAC, in one with IAA type B). In patients with TOF/PA-VSD and microdeletion anatomic features that were significantly associated with 22q11.2, deletion included right aortic arch (p = 0.018), aberrant right subclavian artery (p < 0.001), and major aortopulmonary collateral arteries (p = 0.016). A complicated postoperative course was more frequent and mortality was higher in patients with conotruncal defects and with/without microdeletion. We conclude that additional cardiovascular anomalies are significantly more frequent in children with 22q11.2 microdeletion and TOF/PA-VSD. Children with conotruncal heart defects and 22q11.2 microdeletion more frequently experienced complicated postoperative course after cardiac surgery.     

Hypospadias: Prevalence,birthweight and associated major congenital anomalies

The aim of this study was to determine the prevalence of hypospadias over 24 years in a Danish population and to describe the relation to birthweight and associated major congenital anomalies. It is a population‐based study of all cases (live births, fetal deaths and elective terminations of pregnancy) with hypospadias born in the period 1986–2009 in Funen County and reported to the EUROCAT registry of congenital anomalies. Cases were included only if surgery for hypospadias was performed. 223 cases of hypospadias were registered during the period 1986–2009 with an overall prevalence of 16.9 per 10 000 births. The prevalence was significantly higher in 2000–2009 compared to 1986–1999 (P < 0.001). We found a three times higher occurrence of VLBW (very low birthweight) infants among cases with hypospadias. Infants with isolated hypospadias were more likely to have mild hypospadias (68%) while cases with associated major congenital anomalies were less likely to have mild hypospadias (42%) (P < 0.05). Hypospadias was associated with VLBW and the severity of the defect was related to the presence of major congenital anomalies. The prevalence of hypospadias has increased during the study period. The relation to VLBW could indicate a causal relationship for hypospadias or a shared pathogenic factor.     

Epidemiology,management and outcome of gastroschisis in Sub-Saharan Africa: Results of an international survey

Background:

The aim was to compare gastroschisis (GS) epidemiology, management and outcome in low-income countries (LIC) in Sub-Saharan Africa (SSA) with middle- (MIC) and high-income countries (HIC).

Materials and Methods:

A 10-question survey was administered at the 2012 Pan-African Paediatric Surgery Association Congress. Results are presented as median (range); differences were analysed using contingency tests.

Results:

A total of 82 delegates (28 countries [66 institutions]) were divided into LIC (n = 11), MIC (n = 6) and HIC (n = 11). In LIC, there were fewer surgeons and more patients. LIC reported 22 cases (1-184) GS/institution/year, compared to 12 cases (3-23)/institution/year in MICs and 15 cases (1-100)/institution/year in HICs. Antenatal screening was less readily available in LIC. Access to parenteral nutrition and neonatal intensive care in LIC was 36% and 19%, compared to 100% in HIC. Primary closure rates were similar in LIC and HIC at 58% and 54%, respectively; however, the majority of staged closure utilised custom silos in LIC and preformed silos in HIC. In LIC, mortality was reported as >75% by 61% delegates and 50-75% by 33%, compared to <25% by 100% of HIC delegates (P < 0.0001).

Conclusions:

Gastroschisis is a problem encountered by surgeons in SSA. Mortality is high and resources in many centres inadequate. We propose the implementation of a combined epidemiological research, service delivery training and resource provision programme to help improve our understanding of GS in SSA whilst attempting to improve outcome.     

Liver transplantation in children with Alagille syndrome: indications and outcome

An AGS is a dominant inherited multisystem disorder caused by mutations in the Notch signaling pathway (JAG1). In our center, 5.3% of liver transplantations (OLT) are performed in children with AGS. Some of the affected children fulfilled criteria for OLT, despite the absence of liver cirrhosis. The aim of our present study was to evaluate the indications and outcome for OLT in children with this complex disorder as clear criteria are difficult to establish in clinical practice. A total of 37 patients were included in a retrospective analysis. Twenty-four children underwent OLT for chronic end-stage liver failure (n = 8) or symptomatic liver disease (n = 16). Patient survival post-OLT was 91.7% after 1 yr, that of graft survival was 87.5%, respectively. Significant post-transplant vascular complications included a mid-aortic syndrome (n = 1) and severe lethal bleeding due to suspected vascular malformation (n = 1). Severe hypercholesterolemia (>800 mg/dL) and xanthomata resolved completely in affected patients. We conclude from our data that indications for OLT in AGS should be extended to patients with severe symptomatic liver disease, even in the absence of liver cirrhosis because of the significantly improved outcome after pediatric OLT in the last decade. Future studies must identify underlying mechanisms of hypercholesterolemia and vascular malformation.     

Congenital central hypoventilation syndrome: diagnosis, management, and long-term outcome in thirty-two children.

The diagnosis, management, and long-term outcome of 32 patients with congenital central hypoventilation syndrome are summarized. Sleep hypoventilation was severe in all cases, resulting in an alveolar carbon dioxide pressure (mean +/- SEM) of 62 +/- 2.5 mm Hg and a hemoglobin saturation of 65% +/- 3.3% without ventilatory or arousal response. Awake hypoventilation on initial assessment was present in 12 of the 32 patients, resulting in an alveolar carbon dioxide pressure of 58 +/- 2.2 mm Hg and a hemoglobin saturation of 59% +/- 7%. Associated conditions included pulmonary hypertension or cor pulmonale or both (78%), heart block and sick sinus syndrome requiring a cardiac pacemaker (two patients), mild atrophy by cranial imaging evidence (40%), seizures (72%), normal brain-stem auditory evoked responses in all but one patient tested, ganglioneuroblastomas (one patient), Hirschsprung disease (16%), and ophthalmologic abnormalities (60%). Growth was deficient in 44% of patients; hypotonia or major motor delay or both were apparent in all. Twenty-two patients are living; 12 of them require continuous ventilatory support and 10 breathe spontaneously while awake and require ventilatory support while asleep. Ten patients have died. Autopsy performed in six cases indicated diffuse central nervous system astrocytosis, gliosis, and atrophy but no primary brain-stem abnormality. Although these data support a diffuse central nervous system process, the specific cause and the mode of inheritance remain unclear. With early diagnosis and careful ventilatory management, the sequelae of hypoxia and morbidity should be minimized and long-term outcome improved.     

Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome

 We describe a 2-month-old boy with penoscro- tal inversion, hypospadias, imperforate anus, facial anomalies, developmental retardation, and a subtelomeric deletion of chromosome 13q. His phenotype with anogenital malformations and characteristic facies closely resembled two unrelated patients with minute deletions of chromosome 13q who we reported earlier. In addition, he had unilateral renal agenesis. We propose that these patients represent a clinically recognizable, novel chromosomal microdeletion syndrome. The findings indicate the presence of a major gene(s) on chromosome 13q33.2qter that regulate(s) the migration and development of ano-reno-genital cells and organs. We speculate that mutations of this developmental gene(s) may also result in more frequent congenital malformations (isolated hypospadias, uterus bicornis, unilateral renal agenesis). Additional studies are needed to further delineate the genetic defect. Accepted: 15 September 1999     

Clinical evaluation, medical management and outcome of atrioventricular canal defects

The relative effects of interatrial shunting, interventricular shunting and atrioventricular valve function will determine the general course of patients with atrioventricular canal defects. This report reviews the natural history, medical management and current outcome of this group of patients. The overall long-term survival of patients with primum atrial septal defect following repair was found to match that of the general population. Results following complete AV canal repair have similarly improved significantly in the last decade. However, residual mitral valve dysfunction remains an important post-operative issue. Straddling, stenosis or atresia of part of the AV valve, often results in significant hypoplasia of a ventricular chamber. In extreme cases, the management will generally follow that of other single ventricle variants, eventually resulting in Fontan palliation. The clinical course and outcome of these and other complex variants such as atrioventricular canal defect with tetralogy of Fallot is discussed.     

Relationship between fluid management, changes in serum sodium and outcome in hypernatraemia associated with gastroenteritis

OBJECTIVE: To describe the relationship between fluid management, serum sodium and outcome in critically ill children with hypernatraemic gastroenteritis. METHODS: A retrospective study of 57 children with hypernatraemic gastroenteritis admitted to a paediatric intensive care unit in Cape Town, South Africa. Data were collected on fluid management, serum electrolytes and adverse outcome (seizures, new neurological deficit and mortality) and analysed using univariate and multivariate statistics. RESULTS: Median admission sodium was 165 mmol/L (145-199). Median volume of intravenous rehydration fluid was 6 mL/kg/h (144 mL/kg/day), with sodium concentration of 61 mmol/L (0-154 mmol/L), resulting in a median fall in sodium of 0.6 mmol/L/h (14.4 mmol/L/day). Fourteen children (25%) had seizures during rehydration, four children (7%) died and five children (9%) developed neurological deficit. Median admission sodium in children with adverse outcome was 172 mmol/L, with rate of fall of 0.63 mmol/L/h, compared with median admission sodium of 163 mmol/L and rate of fall of 0.48 mmol/L/h, in children with good outcome (P=0.068 and P=0.08, respectively). Median sodium content of intravenous solution was 61 mmol/L in both groups (P=0.68). Multivariate analysis demonstrated that neither sodium content of intravenous solution (P=0.59), nor rate of fall of sodium (P=0.31), was independently associated with adverse outcome. CONCLUSIONS: Rehydration in hypernatraemic gastroenteritis using intravenous solutions containing 61 mmol/L sodium would be expected to correct serum sodium at a rate of approximately 0.6 mmol/L/h. Neither sodium content of the intravenous solution, nor rate of correction of sodium, was independently associated with adverse outcome.     

Liver transplantation in infants weighing under 7 kilograms: management and outcome of PICU

Liver transplantation (LT) is an established treatment for children with acute and chronic liver failure. Some reports suggest that infants under the age of 1 yr and children weighing under 13 kg are high-risk groups associated with less satisfactory results. This report describes our experience during the pediatric intensive care unit stay of 16 infants weighing <7 kg who received LT. We reviewed the records of 16 infants with median age 7.4 months and median weight 5.8 kg, who received 18 liver allografts, nine whole and nine reduced. We also reviewed the use of adrenergic agonist agents, anti-infectious agents, antihypertensive agents, diuretics, immunosuppression protocol, sedation-analgesia agents, others agents (prostaglandin E(1), heparin and dipyridamole), diagnosis and management of rejection episodes, follow-up examination, nutrition and outcome. Mean peri-operative blood transfusions were 204 mL/kg, 188 mL/kg of plasma and 36 mL/kg of platelets; mean operative time was 5 h. Primary abdominal wound closure was possible in nine patients. Median initial intensive care unit stay was 18 days. Reasons for an initial stay of more than 18 days were retransplantation (1), gastrointestinal bleeding (2), paralytic ileus and atelectasis (2), septic shock (2), diaphragmatic paralysis, renal impairment and acute respiratory distress syndrome (2). Mean requirement for artificial ventilation was 168 h. Mean use of dobutamine, prostaglandin E(1) and dopamine was 3.3, 7.5 and 8.8 days, respectively. Parenteral nutrition was started at a mean of 48 h and oral food intake was started at a mean of 72 h. The most frequent complications were infection, atelectasis, gastrointestinal bleeding, acute renal failure and hepatic artery thrombosis. Four children required six re-explorations and two received retransplantation. Mean overall survival rate was 82% and graft survival was 72%. Weight alone (under 7 kg) should not be considered as a contraindication for LT. The survival rate of children post-LT is excellent regardless of graft type.     

Pneumococcal meningitis in Western Australian children: epidemiology, microbiology and outcome

OBJECTIVES: Pneumococcal meningitis is now vaccine-preventable but continues to cause high rates of neurological sequelae internationally. Population-based epidemiology, outcome and microbiology data are necessary to target vaccination strategies. This study outlines these key areas for Western Australian children diagnosed 1990-2000. METHODS: The charts of all rural and metropolitan children with International Classification of Disease 9 and 10 discharge codes of pneumococcal or streptococcal meningitis from the Health Department's Hospital Morbidity Data System were reviewed. RESULTS: Over 10.5 years, 94 episodes were confirmed. The average annual incidence for children under 2 years was 13.45 per 100 000 and 0.66 per 100 000 for children 2 years or older. Indigenous children had an almost seven-fold increased risk compared to non-Indigenous (with 78.55 per 100 000 in the under two-year Indigenous group). Eight children died and 24 of the survivors had neurological sequelae. Penicillin resistance occurred in four of 87 isolates. One quarter of the cohort qualify under the current Australian policy of vaccination of high-risk children with seven-valent conjugate (7vPCV) vaccine. Most isolates (49/58) were 7vPCV serotypes, however, Indigenous populations were less well-covered (58.3% covered vs 91.3% of isolates from non-Indigenous children). Indigenous coverage would be improved to 75% with 11-valent conjugate vaccine. CONCLUSIONS: Indigenous children and those under 2 years are most affected by pneumococcal meningitis and remain primary vaccination targets. Three quarters of these children would not be protected by a policy of vaccination of only high-risk children with 7vPCV--improved protection requires higher valencies for Indigenous populations and universal infant vaccination.     

Calcified meconium balls in a newborn: an unusual case with imperforate anus,rectourinary fistula,colpocephaly, and agenesis of corpus callosum

Calcified intraluminal meconium is a rare finding in newborn infants. It is often associated with communication between the urinary and gastrointestinal tracts. Intra-abdominal calcifications are unusual radiographic findings in the newborn and can easily be misinterpreted as meconium peritonitis. We report on a newborn infant with anorectal malformation, meconium balls, intraluminal calcifications, colpocephaly, and agenesis of the corpus callosum, a rare association.