Echocardiographic Prediction of Neonatal ECMO Outcome

Cardiopulmonary physiology was assessed by Doppler echocardiography in neonates undergoing pre-ECMO evaluation for meconium aspiration syndrome, congenital diaphragmatic hernia, persistent fetal circulation, and sepsis, from March 1987 through July 1992 (n= 136). Percent survival by diagnosis was: meconium aspiration syndrome, 86%; persistent fetal circulation, 68%; congenital diaphragmatic hernia, 63%; sepsis, 33%. Survival odds by diagnosis predicted a better outcome for meconium aspiration syndrome than for congenital diaphragmatic hernia and sepsis, and a better outcome for persistent fetal circulation than for sepsis. Percent survival for right-to-left patent ductus arteriosus flow (PDA) was 56%; other patent ductus arteriosus flow was 84%. In multivariate analysis, percent survival in congenital diaphragmatic hernia and persistent fetal circulation patients with right-to-left PDA flow suggested a worse outcome (% survival right-to-left vs other: congenital diaphragmatic hernia, 13% vs 70%; persistent fetal circulation, 25% vs 85%), whereas percent survival did not appear to suggest the same in meconium aspiration syndrome or sepsis patients. Similar analysis in non-ECMO patients suggested a worse outcome with right-to-left PDA flow in patients with meconium aspiration syndrome and congenital diaphragmatic hernia. Right-to-left PDA flow, sepsis, and congenital diaphragmatic hernia were associated with a poorer ECMO outcome. Initial assessment of PDA flow helps predict ECMO outcome.     

Spondylothoracic dysplasia with diaphragmatic defect: a case report with literature review.

Spondylothoracic dysplasia (Jarcho-Levin syndrome) is a syndrome of unknown etiology. We describe a new case with diaphragmatic eventration. Literature review for cases of Jarcho-Levin syndrome with diaphragmatic defects, which were six cases, revealed that renal affection increased when diaphragmatic defects associate the syndrome with pulmonary hypoplasia. Thus, the subgroup of spondylothoracic dysplasia with diaphragmatic defect is a more severe subgroup of the syndrome rather than the other forms of this syndrome. Relating the described anomalies in this case and that of the literature cases to the known embryological basis may point to a pivotal developmental link between lung, kidney and diaphragm, possibly the posterior mesenchyme.     

Congenital diaphragmatic hernia with a late disclosure

Two further cases of congenital diaphragmatic hernia with delayed presentation are reported: a 6-month-old male presented a posterolateral diaphragmatic hernia with small bowel in left hemithorax masquerading as pleural effusion; an 11-year-old boy with Down's syndrome presented a retrocostoxyphoid hernia revealed by vague faintness. The authors emphasize the deceptive clinical aspect, the different means for diagnosis, the risk of wrong diagnosis and pleural drain, the usual good outcome of these late-onset diaphragmatic herniation.     

Congenital diaphragmatic hernia in CHARGE syndrome

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings.     

Diaphragmatic hernia in Down's syndrome

Three Saudi children with Down's syndrome were found to have anterior diaphragmatic hernias. They all needed surgical correction. In Down's syndrome, besides congenital heart disease and recurrent chest infection, a diaphragmatic hernia should be looked for as a possible cause of respiratory distress and chest deformity.     

The spectrum of Cantrell's syndrome

Eight patients representing the entire spectrum of Cantrell's syndrome are presented. While a combined diaphragmatic and pericardial defect is an essential feature of the syndrome, other manifestations form a continuum ranging from innocent upper abdominal midline defects to the full-blown pentalogy sometimes incompatible with life. In only two cases was the diagnosis established preoperatively. One patient presented uniquely with bilateral chylothoraces. Clinical suspicion, plain chest roentgenograms, and ultrasonography proved the most definitive diagnostic aids. Two patients died early due to their severe cardiac malformations. Six children are alive 16 months to 23 years postoperatively. Seven patients underwent operative correction of their defects. A primary repair of the abdominal and diaphragmatic lesions was performed trans-abdominally or via a sternotomy in all but one case. Two patients had late repairs of their intracardiac defects. Although rare, Cantrell's syndrome must be actively sought in every patient with an omphalocele or an atypical diaphragmatic hernia. These patients need a full cardiac evaluation before operation. The Diaphragmatic defect must be recognized and repaired before closure of the omphalocele. The prognosis depends mainly on the cardiac lesion. Offprint requests to: K. Vanamo     

Late onset of right Bochdalek's hernia with strangulation of the omentum

We report a case of bloody pleural effusion and infarction of the greater omentum caused by a non-traumatic diaphragmatic hernia with a late presentation. A 15-y-old boy with Down's syndrome developed abdominal pain and vomiting, as well as an elevated serum level of C-reactive protein. Chest roentgenograms showed a right-sided pleural effusion and computed tomography revealed a right diaphragmatic hernia. Barium enema confirmed the diagnosis. An operation revealed a right Bochdalek's hernia with strangulation of the greater omentum in the right pleural cavity. Conclusion: Diaphragmatic hernia should be considered in patients with pleural effusion, abdominal pain and vomiting.     

Bilateral Ulnar Agenesis: Case Report and Review of the Literature

Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann—de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann—de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis.     

Fryns syndrome. Report on 3 new cases]

BACKGROUND: Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies. CASES REPORT: We report on 3 patients with Fryns syndrome in the french Indian Ocean islands (La Réunion and Mayotte islands). Pregnancies were complicated by polyhydramnios. All patients had coarse face, cloudy corneae, cleft lip / palate or high-arched palate, hypoplastic nails and brachytelephalangy. They died in the neonatal period. Two had CDH and 1 did not have a diaphragmatic involvement but a severe respiratory distress syndrome with refractory hypoxemia. Cytogenetic studies of blood lymphocytes and skin fibroblasts were normal. CONCLUSIONS: Fryns syndrome is the most common multiple congenital anomaly associated with CDH. The diagnosis is strongly suggested when CHD and brachytelephalangy are associated. Phenotypes with CDH similar to Fryns syndrome have been described with cytogenetic aberrations with G-banded chromosome analysis and submicroscopic chromosome deletions detected by high resolution karyotyping or array comparative genomic hybridization (CGH). Exclusion of chromosome aberrations (including isochromosome 12p in skin fibroblasts) is needed prior to making the diagnosis of Fryns syndrome. In sporadic cases, high resolution karyotyping or array CGH should be performed for correct diagnosis and genetic counselling.     

Association between WAGR syndrome and diaphragmatic hernia

Anomalies in WT-1 (Wilms' tumor gene), mapped to 11p13, cause Denys-Drash, Frasier and WAGR syndromes. WAGR syndrome is characterized by Wilms' tumor (W), aniridia (A), genitourinary anomalies (G) and mental retardation (R). In the early human fetus, WT-1 is expressed in the pleural and abdominal mesothelium, and consequently this gene may play a role in diaphragm development. The first report of an association between WAGR syndrome and congenital diaphragmatic hernia has recently been published. We present another infant with aniridia, left cryptorchidism with testicular dysgenesis, right-sided posterolateral diaphragmatic hernia and moderate psychomotor retardation, in whom genetic study showed a deletion of 11p13 and PAX-6, confirming the diagnosis of WAGR syndrome.     

Diaphragmatic avulsion with chance fracture: a rare association in the seat belt syndrome

Traumatic diaphragmatic injuries are uncommon in children. Chance fractures are typical in adults who had motor vehicle accidents but infrequent in children. The seat belt syndrome is characterized by a spectrum of injuries caused by the compression of the abdomen by the seat belt. It can affect the abdominal wall, hollow or solid organs, and the spine, but the association between diaphragmatic rupture and Chance fracture is extremely rare. We describe the case of a child who was involved in a car accident and who presented with multiple traumas; liver and lung injuries were first detected, and the patient was managed accordingly. During the hospital stay, a right diaphragmatic avulsion and a Chance fracture, which were initially missed, were diagnosed and treated successfully. The relevance of this case lies in the low incidence of the diaphragmatic rupture and the Chance fracture in children along with their exceptional association and in the diagnosis, which might be especially difficult in the acute setting.     

Diaphragmatic spinal muscular atrophy with bulbar weakness.

We present the clinical and histopathological features of a child affected by diaphragmatic spinal muscular atrophy. The child was born with mild distal arthrogryposis, mild hypotonia and developed marked diaphragmatic and bulbar muscle weakness in the first week of life. Electrophysiological and pathological investigations performed at presentation were not conclusive, while the investigations performed at 3 months showed a clear neurogenic picture. Genetic studies excluded involvement of the SMN gene, or of other genes located on chromosome 5q, confirming that this syndrome represents a different entity from typical proximal spinal muscular atrophy.     

Diaphragmatic hernia in an 8-year-old with Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) includes a group of connective-tissue disorders characterized by abnormal collagen metabolism. The diverse spectrum of this disease and its complications present a distinct challenge to the surgeon. Patients with this hereditary disorder may have hyperelastic or fragile skin, poor wound healing, hypermobile joints, clotting abnormalities, spontaneous pneumothoraces, recurrent hernias, bowel perforation, and vascular complications. An 8-year-old female with EDS type VII and a newly diagnosed diaphragmatic hernia is presented. Surgical considerations of this syndrome are reviewed.     

Eventration of the diaphragm and associations

Eventration of the diaphragm, most often an isolated entity, and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.     

Congenital Diaphragmatic Hernia and Chromosomal Anomalies: Autopsy Study

In a 10-year review of autopsy records from Lutheran General Hospital (1992–2002), 13 cases of congenital diaphragmatic hernia (CDH) were found. The fetuses ranged between 21 and 35 wk of gestation. Four were born alive and five were diagnosed prenatally. The defect was left-sided in 11 cases. Cytogenetic study revealed five cases with normal karyotype and three cases with complex karyotypes. In five cases, no karyotype was performed. The three complex karyotypes were: 46,XX,del(8)(p23.1), 47,XX,+i(12)(p10)[6]/46XX[14] (Pallister-Killian syndrome), and 47,XY,+der(22)t(11:22)(q23.3:q11.2). The unbalanced translocation of chromosomes 11 and 22 in congenital diaphragmatic hernia has not been previously described. Three fetuses had heart abnormalities, including one which was associated with the 8p deletion. The other two had no karyotype study. Neither in this study, nor in the literature, is there a consistent or prevailing association between a specific chromosomal anomaly and CDH. The embryologic closure of the diaphragmatic leaflets may be mediated by a nonstructural chromosomal defect, more than one gene, and/or may be related to abnormalities not currently detectable. This study was presented at the College of American Pathologists Meeting, San Diego, California, USA, 10–14 September 2003.     

Hypoplastic left heart syndrome in PAGOD syndrome

Chromosomal abnormalities as well as non‐cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway.     

Trisomy 18 syndrome with incomplete Cantrell syndrome

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the Lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.     

Unusual complications of empyema thoracis: Diaphragmatic palsy and Horner's syndrome

We report here a 3 month old child with empyema thoracis, who developed complications of diaphragmatic palsy and Horner's syndrome. These complications of empyema thoracis have not been reported earlier. We discuss the possible mechanisms for these complications.     

M-mode sonography of diaphragmatic motion: description of technique and experience in 278 pediatric patients

BACKGROUND: The use of M-mode sonography for evaluation of diaphragmatic motion has only been previously reported in small series of children, and its use is not widespread among pediatric radiologists. OBJECTIVES: To present our experience with M-mode sonography in the evaluation of diaphragmatic motion in a large number of children with suspected diaphragmatic paralysis, to describe the technique used and to correlate sonographic findings with chest radiographs and clinical outcome. MATERIALS AND METHODS: Retrospective analysis of all M-mode sonograms performed in children from September 1999 to December 2003. The available chest radiographs and the clinical findings were reviewed and correlated with the sonographic findings. RESULTS: A total of 742 hemidiaphragms were evaluated in 278 children. There was no visualization of the left hemidiaphragm in 2 children (0.71%). Movement of the right hemidiaphragm was normal in 238 and abnormal in 131. Movement of the left hemidiaphragm was normal in 232 and abnormal in 135. Abnormal diaphragmatic movement was present in 118 (63%) of 187 children in whom chest radiographs had shown normal position of the hemidiaphragms. Follow-up examinations were obtained in 56 children, revealing improvement in diaphragmatic motion in 26, no change in 23 and deterioration of motion in seven. SUMMARY: M-mode sonography should be the modality of choice to assess diaphragmatic motion, as it can easily depict diaphragmatic dysfunction and allows comparison of changes in follow-up studies. Normal chest radiographs are poor predictors of normal diaphragmatic motion.