Antenatally Detected Congenital Pulmonary Airway Malformations: The Oxford Experience.

Congenital airway pulmonary malformations are increasingly being diagnosed, but their management continues to remain controversial. Our approach has been to offer surgery to mitigate the risk of infection and possible malignancy. All patients routinely undergo a CT scan of the chest postnatally and once the diagnosis is confirmed, minimal access surgery is offered. Our anesthetists provide single-lung ventilation to enhance the operative view. We conducted a retrospective review over a 10-year period, during which 91 patients were prenatally suspected to have a cystic lung lesion. There were 88 live births of which 29 (33%) cases were initially managed conservatively based on CT findings. Five of these patients, however, became symptomatic needing surgery. A total of 64 (73%) patients underwent surgery with the most common lesions being congenital pulmonary airway malformations (CPAMs) (24), hybrid lesions (19), and pulmonary sequestrations (12). The median age at surgery was 5 months (1 day to 17 months). Using a minimal access approach, 41 (64%) cases were completed with 17 performed open from the onset. Open surgery was indicated in neonates who became symptomatic within the first few weeks of life as well as patients in respiratory distress that would not tolerate either single-lung ventilation or gas insufflation. There were six further conversions to open from minimal access surgery due to poor visualization or technical difficulties. One patient needed a perioperative blood transfusion and one patient had a more prolonged stay due to persistent air leak managed conservatively. Among asymptomatic patients, evidence of microscopic disease was seen, which included infection as well as two cases of tumors, one pleuropulmonary blastoma seen as part of a CPAM, and one rhabdomyomatous dysplasia seen in the CPAM component of a hybrid lesion. In our experience, excising asymptomatic lesions is safe with minimal complications. Single-lung ventilation in combination with thoracoscopy provides excellent vision. There is a risk of infection and a definite, albeit low, risk of malignancy, which may outweigh the benefits of conservative management.

Pathology of asymptomatic, prenatally diagnosed cystic lung malformations.

AIM: The management of asymptomatic congenital cystic lung malformations is controversial. Arguments for excision of asymptomatic lesions are the potential for infection and malignancy. Following antenatal detection, our institute performs a CT at 1month, clinic follow-up by 3months to discuss the controversial management, and offers surgery by 6months of age. We investigated the histopathology of asymptomatic lesions to determine whether there was evidence of subclinical infection or malignancy. METHODS: A retrospective review of prospectively collected antenatal congenital cystic lung malformations more than a 10year period (2005-2014) was conducted. Information was gathered from the antenatal registry and histopathology reports. Infection was defined by the presence of microabscesses or neutrophil/macrophage infiltration, as per histopathological criteria. MAIN RESULTS: From the cohort of 99 patients, the study focused on 69 asymptomatic lesions. These cases comprised 34 congenital pulmonary airway malformations (CPAM), 15 pulmonary sequestrations (PS), and 20 hybrid lesions. Eighteen cases (26%) had microscopic disease - 16 cases of infection and 2 tumors. The infectious cases comprised 7 with microabscesses and 9 with neutrophil/macrophage infiltration. There were two cases of tumors, namely pleuropulmonary blastoma. These tumors were followed up by the oncology team with regular imaging until 3years of age and clinical review thereafter. CONCLUSION: Twenty-six percent of antenatally detected, asymptomatic cystic lung malformations demonstrated either subclinical infection or malignancy. This information can be used for counseling parents and determining the method of treatment.

The pathology of congenital lung lesions.

The spectrum of complications associated with congenital lung malformation is wide. They can range from fetal hydrops in utero to postnatal problems of ventilation, obstruction and infection; presentation may occur from the neonatal period to adulthood. Many lesions will remain asymptomatic while at the other end of the complication spectrum, there is a small risk of neoplasia associated with some forms of cystic lung. A better understanding of the pathology has shown that bronchial atresia/obstruction is the likely hidden pathology underlying many congenital lung lesions leading to downstream cystic maldevelopment. Earlier diagnosis has led to increasing difficulties in ascribing malformations to conventional categories that were originally described in postnatal lungs. It is probably more important to be aware of the potential combination of vascular and airway connections and complications than to try and prescribe a classification of pulmonary lesions associated with rigid definitions.

Neonatal sepsis: A, B, C--don't ever forget herpes.

A 5-day-old male presents to the emergency department septic and jaundiced, is resuscitated and started on broad spectrum intravenous antibiotics. However tragically in this case despite showing initial signs of stabilisation, he deteriorated with refractory metabolic acidosis and disseminated intravascular coagulation, and later passed away. At postmortem, disseminated herpes simplex virus-1 (HSV-1) was found. Paediatricians are well aware of the risk factors for bacterial neonatal sepsis and actively seek information from parents to identify those children at risk. When however should a viral aetiology be considered? Should all neonates receive empirical therapy until proven otherwise? The authors review the literature surrounding neonatal HSV infection and discuss the potential pitfalls of empirical treatment.

Congenital infantile myofibroma causing intrauterine death in a twin.

While infantile myofibromatosis is the most common mesenchymal tumour of infancy, only around 300 cases have been reported. The authors report a 33-year-old para 1 with an uncomplicated, dichorionic diamniotic twin pregnancy who was diagnosed with an intrauterine death of one twin at 36+5 weeks gestation. At caesarean section, a macerated male stillborn weighing 2.72 kg was delivered. Postmortem examination revealed a pedunculated lesion attached to the left shoulder and underlying muscle consistent with a congenital myofibroma. The cause of death was postulated to be haemorrhage from the tumour surface causing fetal anaemia.

Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.

CONTEXT: Multiple endocrine neoplasia type 1 (MEN1) is characterized by the occurrence of parathyroid, pituitary, and pancreatic tumors. MEN1, an autosomal dominant disorder, has a high degree of penetrance, such that more than 95% of patients develop clinical manifestations by the fifth decade, although this is lower at approximately 50% by age 20 yr. However, the lower penetrance in the younger group, which is based on detecting hormone-secreting tumors, may be an underestimate because patients may have nonfunctioning tumors and be asymptomatic. OBJECTIVE: The aim of the study was to evaluate the occurrence of nonfunctioning pancreatic neuroendocrine tumors in asymptomatic children with MEN1. PATIENTS: Twelve asymptomatic Northern European children, aged 6 to 16 yr, who were known to have MEN1 mutations were studied. RESULTS: Two asymptomatic children, who were aged 12 and 14 yr, had normal plasma fasting gastrointestinal hormones and were found to have nonfunctioning pancreatic neuroendocrine tumors that were more than 2 cm in size. Surgery and immunostaining revealed that the tumors did not have significant expression of gastrointestinal hormones but did contain chromogranin A and synaptophysin, features consistent with those of nonfunctioning pancreatic neuroendocrine tumors. The tumors had a loss of menin expression. The 14 yr old also had primary hyperparathyroidism and a microprolactinoma, and the 12 yr old had a nonfunctioning pituitary microadenoma. Three other children had primary hyperparathyroidism and a microprolactinoma. CONCLUSION: Nonfunctioning pancreatic neuroendocrine tumors may occur in asymptomatic children with MEN1 mutations, and screening for such enteropancreatic tumors in MEN1 children should be considered earlier than the age of 20 yr, as is currently recommended by the international guidelines.