Atypical pulmonary sequestration causing respiratory distress in a 2-month-old male infant.

Pulmonary sequestrations are non-functional masses of lung tissue lacking normal communication with the tracheobronchial tree and systemic-circulation-derived blood supply. The disconnection between the normal airway and pulmonary arterial supply prevents pulmonary sequestrations from participating in respiration while their aberrant circulation increases the potential for hemodynamic imbalance. Extralobar sequestrations are prenatally diagnosed, congenital lesions that may become symptomatic before or after birth, whereas intralobar sequestrations are usually identified during adulthood. This report describes a 2-month-old boy with respiratory distress caused by an anomaly characterized by a systemic artery feeding a large segment of the left lower lobe lacking normal ventilation due to absent bronchial connections. This segment that was surrounded by its own visceral pleura, and separated from the normal lower lobe by a fissure, drained through a large vessel into the left inferior pulmonary vein, causing left-to-left shunting and high output failure. Symptoms disappeared immediately following thoracoscopic division of the aberrant vessels and excision of only the sequestered segment. This case accentuates the hemodynamic imbalance set off by a left-to-left shunt across an atypical sequestration that although intralobar was separated by an accessory fissure from the normal parenchyma and also the benefits of video-assisted thoracoscopic surgery.

Congenital lobar emphysema.

Congenital lobar emphysema is a rare variety of congenital malformation of lung characterized by over distension of a lobe of the lung due to partial obstruction of the bronchus. It is one of the rare causes of infantile respiratory distress requiring surgical resection of affected lobe. We are reporting the case of an 8-week-old baby who presented with respiratory distress related to CLE affecting the left upper lobe. Lobectomy was performed under general anaesthesia followed by an uneventful recovery.

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

RATIONALE: Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private. OBJECTIVES: To determine genotype-phenotype correlations for recessive ABCA3 mutations. METHODS: We reviewed all published and unpublished ABCA3 sequence and phenotype data from our prospective genetic studies of symptomatic infants and children at Washington and Johns Hopkins Universities. Mutations were classified based on their predicted disruption of protein function: frameshift and nonsense mutations were classified as "null," whereas missense, predicted splice site mutations, and insertion/deletions were classified as "other." We compared age of presentation and outcomes for the three genotypes: null/null, null/other, and other/other. MEASUREMENTS AND MAIN RESULTS: We identified 185 infants and children with homozygous or compound heterozygous ABCA3 mutations and lung disease. All of the null/null infants presented with respiratory failure at birth compared with 75% of infants with null/other or other/other genotypes (P = 0.00011). By 1 year of age, all of the null/null infants had died or undergone lung transplantation compared with 62% of the null/other and other/other children (P < 0.0001). CONCLUSIONS: Genotype-phenotype correlations exist for homozygous or compound heterozygous mutations in ABCA3. Frameshift or nonsense ABCA3 mutations are predictive of neonatal presentation and poor outcome, whereas missense, splice site, and insertion/deletions are less reliably associated with age of presentation and prognosis. Counseling and clinical decision making should acknowledge these correlations.

Urgent bilateral endoscopic marsupialization for respiratory distress due to bilateral dacryocystitis in a newborn.

We describe an infant with respiratory distress due to bilateral dacryocystoceles and dacryocystitis who was successfully treated with urgent bilateral endoscopic marsupialization. A male infant was brought to our outpatient department 7 days after birth, with red, acutely inflamed swellings near the medial canthal area of both eyes. From birth, there had been bluish swelling near the medial canthal area, and redness and swellings developed within 3 days. On physical examination, the child was afebrile but showed respiratory distress with coarse breathing sound. That day, the infant was admitted and treated with intravenous cefotaxime 150 mg. After withholding oral intake for appropriate preoperative fasting, urgent bilateral probing with endoscopy was done. On endoscopy, huge bilateral congenital dacryocystoceles were found. Because of its huge size, the inferior surface of the cyst was touching the nasal floor, which made probe unable to perforate the wall of dacryocystocele. Therefore, an endoscopy-assisted marsupialization of dacryocystoceles and bicanalicular silicone intubation were performed. Both swellings and erythema subsided within 48 hours postoperatively, and the patient was discharged after 72 hours from treatment.

Fast and early mandibular osteogenetic distraction in a 24-day-old female newborn with Larsen syndrome.

BACKGROUND: Larsen syndrome (LS) is a rare bone dysplasia characterized by multiple dislocations affecting large and small joints, progressive scoliosis, accessory and early ossifying carpal/tarsal bones, and characteristic craniofacial features. CASE PRESENTATION: A newborn with a clinical diagnosis of LS is presented. Shortly after birth, she had respiratory distress due to retrognathia. Such a life-threatening complication was resolved by mandibular distraction osteogenesis at 24 days of age. CONCLUSION: Fast and early mandibular osteogenetic distraction could represent an optimal tool to avoid tracheostomy and to improve oral feeding in patients with rare conditions, such as LS.

Hairy polyp can be lethal even when small in size.

A case of sudden cardiopulmonary arrest in a 3-month-old girl is presented. The patient had barely recovered from hypoxic encephalopathy when she presented with repeated respiratory distress. Computed tomography and endoscopic analysis revealed a shiny polyp in the lateral wall of the nasopharynx, and this polyp was suspected to be the main cause of respiratory distress. After referral to our hospital, surgical removal was performed, and the histopathological diagnosis was hairy polyp. Hairy polyp is a rare congenital benign tumor that sometimes induces respiratory distress. This polyp can potentially induce a life-threatening event. In a systematic review of 40 reported cases, polyps of ≤ 3.0 cm in diameter have a higher risk of respiratory distress than do those >3.0 cm in diameter (P = 0.01). Small hairy polyps may be lethal because of delayed diagnosis. To locate small hairy polyps, physicians should not hesitate to perform further examination because there is the possibility of oversight with only physical examination.

Emphysema as a possible complication of infant respiratory distress syndrome leading to lung transplantation.

Infant respiratory distress syndrome (IRDS) develops among premature infants due to structural immaturity of the lungs and insufficient production of pulmonary surfactant. Nowadays, treatment takes place under conditions of intensive care and includes oxygen therapy, mechanical ventilation, exogenous supplementation of pulmonary surfactant and antenatal corticosteroid therapy. The treatment of IRDS, especially mechanical ventilation, may lead to complications which can contribute to developing a severe dysfunction of the respiratory system. Unavailability of pharmacological treatment of IRDS and development of pulmonary barotrauma due to mechanical ventilation in our patient led to the forming of severe pulmonary interstitial emphysema. In this case report, lung transplantation was performed as an only successful therapeutic option.

Acute respiratory distress secondary to severe compression of the left main bronchus by the ductus arteriosus.

Two newborn infants presented with acute respiratory distress. In both cases, the left lung was opaque, hyperinflated, and associated with a rightward shift of the mediastinum. A diagnosis of retained fetal fluid secondary to vascular compression of the left bronchus by the ductus arteriosus was made by combining various imaging methods including chest radiograph, computed tomography (CT), and echocardiography. Although the initial chest radiographs were similar, the mechanisms of obstruction were different. The imaging emphasizes the importance of CT angiography to understanding the three-dimensional relationships resulting in bronchial compression.

Clinical and surgical aspects of congenital lobar over-inflation: a single center retrospective study.

BACKGROUND: Congenital lobar overinflation (CLOI) is one of the most important causes of infantile respiratory distress (RD). We aim to evaluate our experience in CLOI management emphasizing on clinical features, diagnostic modalities, surgery and outcomes. METHODS: This is a retrospective study for all CLOI cases undergoing surgical management at Qena University Hospital. Demographic data, clinical data, radiographic findings, surgery and postoperative follow-up were reviewed. RESULTS: A total of 37 neonates and infants with CLOI were presented to our center between January 2015 and January 2019; their mean age was 111.43 ± 65.19 days and 22 were males. All cases presented with RD; and cyanosis in 19 cases. 15 cases presented with recurrent pneumonia and fever. Diminished breath sounds on the affected side and wheezes were the main clinical findings in 30 and 22 cases respectively. On CXR, emphysema was detected in all cases. A confirmatory CT chest was done for all cases. Left upper lobe was affected in 23 cases, right middle lobe in 7 and right upper lobe in 7 cases. Lobectomy was done in thirty-one cases; their mean age at surgery was 147.58 ± 81.49 days and 19 were males. Postoperative complications were noted in 5 cases and postoperative ventilation was required for 2 of them. No morbidity or mortality was reported. The follow-up duration ranged from 3 months to 1 year and all patients were doing well except one case that lost follow up after 3 months. CONCLUSION: CLOI is a rare bronchopulmonary malformation that requires a high index of clinical suspicion, especially in persistent and recurrent infantile RD. CT chest is the most useful diagnostic modality. Early management of CLOI improves outcome and avoid life-threatening complications. Surgical management is the treatment of choice in our center without recorded mortality.

Imaging of primary unilateral pulmonary hypoplasia: a case report.

BACKGROUND: Pulmonary hypoplasia is a rare cause of neonatal dyspnea almost always secondary to other conditions. We report an exceedingly rare case of primary unilateral pulmonary hypoplasia. RESULTS AND DISCUSSION: This case illustrates the role of prenatal magnetic resonance imaging when this condition is suspected during the fetal life. Combined with ultrasounds, this imaging modality offers a three-dimensional evaluation of the lungs that can be critical for postnatal medical management.

Outcome and treatment in an antenatally diagnosed congenital cystic adenomatoid malformation of the lung.

BACKGROUND: The natural history of patients with antenatally diagnosed congenital cystic adenomatoid malformation of the lung (CCAM) is still fully unknown. In symptomatic patients with respiratory distress, an operation is performed during the neonatal period. However, in asymptomatic patients, the optimal timing of the operation remains controversial. During the period from 1977 to 2007, we experienced 14 CCAM patients diagnosed antenatally. Therefore, we investigated the outcome of antenatally diagnosed CCAM patients to clarify the optimal treatment for such patients. METHODS: Fourteen patients were reviewed regarding the antenatal ultrasonography findings and postnatal clinical course. They were then classified into three groups according to the clinical manifestations. Group A was associated with hydrops fetalis (n = 2), group B had respiratory symptoms just after birth (n = 6), and group C was asymptomatic at birth (n = 6). The postnatal clinical courses in three groups were reviewed. RESULTS: In group A, all two patients with hydrops fetalis died just after birth. In group B, six patients had a severe respiratory distress and underwent operation during the neonatal period. In group C, five out of six patients were asymptomatic and received elective operation during the early infant period. In the remaining one patient, the lesion spontaneously disappeared over time after birth. The mean age at the time of operation in group B and group C was 4.5 days and 4.5 months of age, respectively. In almost all patients in group C, we performed an operation within the first 6 months. During this observation period, we did not experience any complications associated with CCAM. CONCLUSION: In patients with hydrops fetalis, fetal intervention is thought to be needed. In patients with asymptomatic CCAM, an elective operation during the early infant period is recommended to prevent the risk of complications associated with CCAM before 6 months of age. In addition, we recommend the performance of a partial lung resection using an axillary skin crease incision in order to obtain a good postoperative quality of life.

Fetal lung interstitial tumor: Prenatal presentation of a rare fetal malignancy.

Fetal lung interstitial tumor (FLIT) is a rare fetal malignancy that is typically diagnosed in the postnatal period, or, if recognized prenatally can mimic a benign lesion such as congenital pulmonary airway malformation. We present the earliest case of a FLIT tumor described by ultrasound and MRI at 26 weeks of gestation. Our case highlights features suggestive of FLIT including presentation later in gestation in combination with findings on fetal MRI such as a solid appearance with radiating curved bands of high signal within and along the periphery of the lesion (not as intensely high signal as the typical CPAM), possibly detailing a radiographic signature for these tumors. The role of betamethasone for these tumors is not known.

VATS management of an enlarging multicystic pneumatocele.

A multicystic pneumatocele progressively enlarged when the patient required positive pressure ventilation for an intercurrent respiratory syncytial virus infection. Video Assisted Thoracoscopic Surgery was used to visualize the pneumatocele for cannulation. One chamber of the pneumatocele was cannulated with a pigtail catheter and another large chamber ruptured, without cannulation. The multicystic pneumatocele resolved with this therapy.

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.

Respiratory distress secondary to nasopharyngeal glial heterotopia.

Nasal glial heterotopia (nasal glioma) is a rare congenital malformation of neural origin. We present a newborn baby with life-threatening respiratory distress secondary to nasopharyngeal glial heterotopia that obstructed the nasopharyngeal or nasal airway. A high degree of suspicion, early diagnosis and surgical management are essential to cure this rare and potentially life-threatening disorder.

Persistent respiratory distress in a neonate: a diagnostic dilemma.

We present a 17-day-old term, female baby who was referred to our centre for persistent respiratory distress. She was managed for pneumonia and pneumothorax at the primary care centre. On detailed clinical examination at admission, a possibility of congenital lobar emphysema (CLE) was considered. A CT chest was performed, and diagnosis of CLE was confirmed. The infant was managed with lobectomy. The respiratory distress settled within a few hours after the surgery, and the baby was discharged in stable condition.

Fatal bilateral congenital mesenchymal hamartoma of the chest wall.

The authors reported a newborn female baby, 36 weeks gestational age, 2680 gms who developed respiratory distress at 2 hours after birth. Her chest roentgenograms showed a normal-sized heart, sparse lung markings and bilateral masses involving the posterior 6th to 8th ribs. Thoracotomy with partial removal of the left chest mass was performed when she was 12 hours age. Postoperatively, the baby developed progressive respiratory distress and expired at 29 hours-age. Autopsy revealed bilateral nodular masses arising from the inner side of the posterior aspect of the 6th to 8th ribs, measuring 6 x 5 x 4 cm (right) and 7 x 6 x 4 cm (left). The cut surfaces showed multicystic spaces containing blood. Histologically, many blood filled spaces with walls of fibroblasts, cartilage and bone tissue were noted. The diagnosis was mesenchymal hamartoma of the chest wall. Mesenchymal hamartoma of the chest wall usually arises from the posterior or lateral portions of the rib and usually involves many ribs. Multi focal lesions and bilaterality are rare. The clinical presentation can be asymptomatic, mild or severe respiratory distress. Surgical resection is the treatment of choice.

[Intraoperative high frequency oscillatory ventilation in 2 children undergoing lung surgery]. / Uso intraoperatorio de ventilación de alta frecuencia oscilatoria en dos casos pediátricos de cirugía pulmonar.

Over the past 10 years, the application of high frequency oscillatory ventilation (HFOV) has been extended beyond the neonatal period. The technique is now used in various respiratory disease settings when conventional mechanical ventilation fails. Even though HFOV has become increasingly routine in some pediatric intensive care units, familiarity with it is still limited among anesthesiologists and surgeons and it is not often applied during surgery. We report our experience using HFOV during thoracic surgery on 2 pediatric patients, one aged 5 years and the other aged 1 month. The respective surgical procedures were to close a bronchopleural fistula and to obtain a lung biopsy in order to provide guidance for limiting therapeutic intervention. In both cases the procedure was performed without adverse effects and allowed medical interventions to be carried out. We conclude that it is possible to perform thoracic surgery in pediatric patients undergoing HFOV. This ventilation mode can be useful during surgery and teams that care for critically ill children should be familiar with the equipment.