Gorlin-Goltz syndrome: first reported case of bullae in the lungs complicated with tension pneumothorax.

A 13-year-old girl was referred by her general practitioner with acute worsening exertional dyspnoea and sudden onset of left-sided chest pain. There was no associated trauma, palpitations or syncope. Clinical examination revealed that the left lung was hyper-resonant on percussion with reduced air entry on auscultation. Chest X-ray showed a left tension pneumothorax. She was treated conservatively with chest drain. Follow-up X-ray revealed multiple bullae within her left lung. Unfortunately, she redeveloped a pneumothorax and was sent to a tertiary centre. She was under the care of the paediatric cardiothoracic surgeons who organised a CT thorax and performed a lobectomy to remove the bullae. She was discharged from the tertiary centre and currently being followed up under the care of the paediatrician in the district general hospital. She have not developed any further pneumothoraxes.

Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.

Birt-Hogg-Dubé (BHD) syndrome is a recently discovered autosomal-dominant disease caused by a mutation in the folliculin gene. We report a patient with familial spontaneous pneumothorax who was found to have BHD syndrome. Patients with a personal and family history of pneumothoraces and computed tomographic (CT) findings of multiple pulmonary cysts should alert the thoracic surgeon to this syndrome; additional evaluation and testing may be warranted.

Recurrent severe oligohydramnios and fetal pulmonary hypoplasia associated with ErbB4 mutation.

BACKGROUND: Pulmonary hypoplasia resulting from oligohydramnios or anhydramnios can cause severe respiratory compromise in newborn patients. We report a case of recurrent oligohydramnios in a mother with an ErbB4 mutation and speculate that the effects on the placenta through decreased vascularization contributed to oligohdyramnios and subsequent pulmonary hypoplasia in the newborn. CASE: The pregnant mother in this case had two subsequent term pregnancies complicated by severe oligohydramnios. Both pregnancies resulted in live born female neonates with pulmonary hypoplasia, pneumothoraces, and pulmonary hypertension. The mother and second newborn, who died, were found to have the ErbB4 mutation. Examination of the placenta with that pregnancy showed decreased vascularity. CONCLUSION: ErbB4 may have important effects on placental development and hydramnios that also may affect neonatal pulmonary hypoplasia.

The use of recombinant tissue-type plasminogen activator in a newborn with an intracardiac thrombus developed during extracorporeal membrane oxygenation.

Extracorporeal membrane oxygenation (ECMO) support is often used to support infants and children with hemodynamic or respiratory failure. One of the major obstacles of safely treating a child with ECMO is balancing the risk of hemorrhage with the potential for thrombus development. Managing thrombosis in the setting of ECMO is challenging and has no defined algorithm. The use of recombinant tissue-type plasminogen activator (tPA) for thrombolysis has been previously described in cases where thrombi have developed despite adequate anticoagulation. In such situations, the risk of hemorrhage must be carefully balanced with the benefit of dissolving the clot and reestablishing flow. We present a case of an infant who required ECMO because of severe primary pulmonary hypertension and subsequently developed a right atrial thrombus adjacent to the ECMO cannula. The patient was treated with tPA with immediate improvement but had fatal intracranial hemorrhage almost 3 days after the tPA was administered. In this report, we review the current literature on tPA use during ECMO support and suggest a rational approach.

Congenital lobar emphysema: differential diagnosis and therapeutic approach.

BACKGROUND: Congenital lobar emphysema (CLE) is a rare anomaly of lung development that usually presents in the neonatal period with respirator distress and pulmonary lobar hyperinflation. It is commonly confused with pneumothorax. The aim of the present paper was to review the authors' experience in order to emphasize the importance of differential diagnosis with pneumothorax. METHODS: Children with CLE treatment at Department of Thoracic Surgery, Dicle University School of Medicine, Turkey, between January 1993 and June 2004, were reviewed. RESULTS: Ten children consisting of six boys and four girls (age range, 6 h-12 months) had CLE. Major presenting symptoms were tachypnea(n = 100%) and respiratory distress in (n = 80%). On chest radiograph, emphysema was seen in all patients, and shift-herniation to the opposite lung, atelectasis were observed. Computed tomography was performed in all patients, which indicated emphysema in the affected lobes in all cases. Pulmonary perfusion scan was performed in two patients, showing loss of perfusion in the affected lobe. The most common affected lobe was the left upper lobe (50%). In the present series, three patients were mistakenly diagnosed as pneumothorax and intercostal drains were inserted in the emergency department. Eight patients underwent lobectomy, and postoperative course was uneventful. Two patients were followed conservatively. Emphysema was detected in all pathological specimens. One patient was lost to follow up. Mean follow-up duration of all patients was 26.8 +/- 29.24 months (range, 1-89 months). CONCLUSIONS: CLE is established on combined clinical, radiological and scintigraphic imaging. Surgical excision of the affected lobe is the appropriate treatment. Particularly, differential diagnosis should be made between CLE and pneumothorax.

Clinics in diagnostic imaging (86). Ruptured bronchogenic cyst.

An eight-year-old boy presented with a sudden onset of chest pain. He had been diagnosed to have a left spontaneous pneumothorax. Chest radiographs and computed tomography of the chest showed a thin-walled cyst in the left lower lobe. Thoracotomy and a segmentectomy of the apical segment of the lower lobe was performed, confirming the diagnosis of a ruptured bronchogenic cyst. Imaging findings of various pulmonary cystic lesions in children are discussed.

[Pneumothorax in neonates and infants]. / Der Pneumothorax bei Neugeborenen und Säuglingen.

Pneumothorax in newborns and infants can have different etiologies: alveolar disruption following mechanic ventilation or reanimation, surgery for congenital diaphragmatic hernia or esophagus atresia, staphylococcal pneumonia, or thoracic traumas. We studied 105 cases of pneumothorax (96 newborns) treated in our hospital during the last 15 years. Pleural puncture with drainage and antimicrobial therapy were the treatments of choice. Due to early diagnosis and treatment of the pneumothorax and concomitant anomalies mortality was reduced to 17.4%.

Congenital cystic adenomatoid malformation of the lung: an unusual presentation.

A case of congenital cystic adenomatoid malformation of the lung is described in a twelve-year-old boy presenting with signs and symptoms of a tension pneumothorax.