Prenatal ultrasonic diagnosis of a cystic adrenal mass with postnatal hemorrhage and in situ neuroblastoma

A prenatally diagnosed cystic suprarenal mass with evidence of postnatal bleeding is reported. The histologic examination after surgery revealed a cystic hematoma with islets of neuroblastoma in situ. The authors point out the need for surgical exploration if an adrenal mass is diagnosed in utero. Correspondence to: M. Lanning     

Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation

Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in CFTR gene resulting in severe phenotype has been described. The cystic fibrosis patients with c.3871 G?>?T mutation may have acholic gaita mimicking biliary atresia in the absence of insipissated bile with minimal histologic findings in the liver.     

Primary pulmonary rhabdomyosarcoma in childhood: Clinico-biologic features in two cases with review of the literature

The cases of two children under three years of age with primary pulmonary rhabdomyosarcoma and no associated lung malformations are reported and a review of the literature is presented. In both, complete surgical removal of the tumor was performed and histologic examination revealed embryonal subtype. Flow cytometric assessment showed a tumor-cell diploid DNA content. Postoperative radio- and chemotherapy were carried out, but in spite of treatment both girls died because of disease progression, fourteen and nine months after diagnosis. The importance of associated cystic lung malformations and DNA content in predicting clinical outcome of primary pulmonary rhabdomyosarcoma is evaluated. © 1996 Wiley-Liss, Inc.     

Cystic fibrosis in a black child with hemoglobin S-D disease

A 9-year-old black patient with the simultaneous occurrence of cystic fibrosis and hemoglobin S-D disease is reported. She was placed on chronic transfusion therapy from 1 year of age because of her rapidly worsening pulmonary condition. Her pulmonary function is now stable. The role of this therapy in the overall management of this unusual syndrome is discussed.     

IgG antibodies to Aspergillus fumigatus in cystic fibrosis: a laboratory correlate of disease activity.

Serum was collected from 50 patients with cystic fibrosis, and IgG antibodies to Aspergillus fumigatus were measured by enzyme linked immunosorbent assay (ELISA). In addition, total IgE and Aspergillus specific IgE antibodies were measured in 41 of the 50. A close association was found between pulmonary function and clinical state, and IgG antibodies to Aspergillus. There was no association between pulmonary function or clinical state and IgE antibodies. It is postulated that in patients with cystic fibrosis, Aspergillus fumigatus may contribute to deterioration in pulmonary function by local pathogenicity, or by hypersensitivity mechanisms mediated by IgG.     

Pleuropulmonary blastoma in congenital cystic adenomatoid malformation: report of a case.

Pulmonary blastoma is a rare malignant tumor seen in both adults and children. Approximately only 25% of cases occur in pediatric patients, many of whom affected by a congenital pulmonary cystic lesion. The clinical features, radiological findings and management of a 3-year-old boy affected by a pulmonary blastoma which arose in a congenital cystic adenomatoid malformation are reported, and an extensive review of the literature is also made. Because of the well-known tendency of cystic pulmonary diseases to develop malignancies, authors recommend the surgical excision of these kind of lesion or at least their close radiological follow-up.     

Childhood sarcoidosis with fatal cor pulmonale

A 14 year-old white girl who developed fatal cor pulmonale from severe pulmonary sarcoidosis had a previous clinical diagnosis of cystic fibrosis. Chest radiographs demonstrated marked pulmonary fibrosis without the changes of severe bronchiectasis that would be anticipated with cystic fibrosis.     

Pulmonary blastoma associated with cystic lesions in children

A 4-year-old boy had a pulmonary blastoma removed from the site of a persistent pulmonary cystic lesion present since 6 weeks of age. Bone metastasis appeared 4 months after diagnosis. Following radiation therapy to the bone and after 15 months of VAC chemotherapy, he developed further metastases which showed little response to adriamycin or radiation therapy. He died 2 years and 2 months after the initial operation. A review of other pulmonary blastomas associated with cystic lesions in children is presented.     

Selective bronchial intubation in a preterm infant with congenital cystic adenomatoid malformation and pulmonary air leak syndrome

A preterm infant with congenital cystic adenomatoid malformation (CCAM) who developed a right‐sided pulmonary air leak syndrome (pulmonary interstitial emphysema and bronchopleural fistula) following CCAM resection is reported. The pulmonary air leak syndrome was successfully ameliorated by intubating the right mainstem bronchus using a modified endotracheal tube that allowed selective ventilation of the left lung. The procedure was used successfully as rescue treatment to control the pulmonary air leak and to confirm the functional adequacy of the left lung prior to definitive operative surgery.     

Progression of cystic fibrosis lung disease as a function of serum immunoglobulin G levels: a 5-year longitudinal study

Seventy children with cystic fibrosis were studied over a 5-year period to assess the relationship between serum immunoglobulin G levels and progression of cystic fibrosis lung disease. Patients were grouped according to their serum IgG values (low, normal, or high) and evaluated with serial pulmonary function testing, radiographic and immunologic studies, and clinical observation. The children with persistent hypogammaglobulinemia G showed significantly better lung function, better weight for age, fewer hospitalizations for pulmonary exacerbations, less colonization with Pseudomonas aeruginosa, and slower decline in pulmonary functions than did age-matched patients with normal or high IgG levels. Death occurred in five of eight (63%) patients with hypergammaglobulinemia, three of 30 (10%) with normogammaglobulinemia, and one of 32 (3%) with hypogammaglobulinemia. No deaths occurred in the 15 patients with persistent hypogammaglobulinemia. These data indicate that children with cystic fibrosis and hypogammaglobulinemia G have milder lung disease and slower deterioration in pulmonary function than do age-matched patients with normal or elevated immunoglobulin G values. The mechanisms accounting for this finding are unclear.     

Isolated pulmonary Langerhans cell histiocytosis in a 17-year-old male

We report a case of a previously healthy 17-year-old male with a history of cigarette smoking, who presented with acute development of respiratory distress. Computed tomography demonstrated cystic pulmonary changes. A lung biopsy confirmed Langerhans cell histiocytosis (LCH). The definitive diagnosis was isolated pulmonary LCH, a disorder that is infrequently found in adults, and rarely in children. We know of only one other case of a previously healthy adolescent cigarette smoker who developed isolated pulmonary LCH. The etiology of pulmonary LCH is unknown, but smoking has been considered as a risk factor.     

Cystic fibrosis manifesting as prolonged conjugated hyperbilirubinaemia in infancy

A case of prolonged conjugated hyperbilirubinaemia in infancy due to cystic fibrosis is reported. The patient was referred as a probable biliary atresia, but because of recurrent pulmonary infections the diagnosis of cystic fibrosis was entertained and confirmed on sweat test and liver histology. Offprint requests to: R. A. Brown at the above address     

Pulmonary toxicity from carmustine (BCNU): a case report.

A patient who had a pneumonectomy for lung carcinoma was treated with carmustine when brain metastases developed. His pulmonary function was mildly compromised prior to the pneumonectomy by many years of smoking. After six months of carmustine therapy [total dose: 2,250 mg (1,200 mg/m2)] he developed interstitial pulmonary fibrosis with histologic changes consistent with drug toxicity. With seven previously reported cases of this drug-effect and the addition of our case, carmustine must be added to the list of cancer chemotherapeutic agents that can cause pulmonary toxicity.     

Nitric oxide metabolites in cystic fibrosis lung disease

Although the activity of nitric oxide (NO) synthases are increased in lung tissue of patients with cystic fibrosis, the concentrations of nasal and exhaled NO have recently been found to be decreased in cystic fibrosis. This could either be due to reduced NO formation or metabolism of NO within airway fluids. In this study, the stable NO metabolites, nitrate and nitrite, were determined in the saliva and sputum of 18 stable cystic fibrosis patients, 21 cystic fibrosis patients during a pulmonary exacerbation, and in saliva and endotracheal secretions of normal controls. Median saliva concentrations of NO metabolites (nitrate plus nitrite) were 704 mumol/l (95% confidence interval (CI) 419 to 1477) in stable cystic fibrosis patients, 629 mumol/l (95% CI 382 to 1392) in cystic fibrosis patients presenting with pulmonary exacerbation, and 313 mumol/l (95% CI 312 to 454) in controls. Median sputum NO metabolite concentration in stable cystic fibrosis was 346 mumol/l (95% CI 311 to 504). This was not significantly different from cystic fibrosis patients presenting with pulmonary exacerbation (median 184 mumol/l, 95% CI 249 to 572), but significantly higher than in endotracheal secretions of controls (median 144 mumol/l, 95% CI 96 to 260). Sputum NO metabolite concentration in cystic fibrosis pulmonary exacerbation significantly increased during antibiotic treatment. A positive correlation was observed between sputum NO metabolites and lung function in stable cystic fibrosis, suggesting less airway NO formation in cystic fibrosis patients with more severe lung disease. These data indicate that decreased exhaled NO concentrations in cystic fibrosis patients may be due to retention and metabolism of NO within the airway secretions. However, sputum NO metabolites are not a useful marker of airway inflammation in cystic fibrosis lung disease.     

The chest roentgenogram in cystic fibrosis: a new scoring system.

A roentgenogram scoring system is presented that is useful in the evaluation and follow-up of patients with cystic fibrosis. The system has been shown to be reproducible by and between observers and to correlate significantly with results of pulmonary function tests, Shwachman-Kulczycki scores, and, in a short-term evaluation, morbidity.     

Heterotopic Pancreatic Tissue Presenting As a Solid and Cystic Lung Lesion: A Very Unusual Bronchopulmonary Foregut Malformation

We describe the history and lung pathology of a premature female infant, who presented with respiratory distress immediately after birth. A thoracic computerized tomography scan showed abnormalities suggestive of congenital cystic adenomatoid malformation of the left lung. In addition, echocardiography revealed a tetralogy of Fallot. A left thoracotomy was performed and the lower lobe of the left lung was removed. Despite intensive supportive therapy, pulmonary hypoperfusion resulted in severe hypoxemia and death. Gross and microscopic analysis of the resected lobe revealed a partly cystic and solid lesion with multiple bronchus-derived cysts and an exuberant multifocal proliferation of glandular tissue, resembling bronchial glands, mixed with heterotopic cartilage surrounding ducts. Immunohistochemical analysis showed the presence of chromogranin A-reactive islet-like structures amidst exocrine tissue showing trypsin and chymotrypsin immunoreactivity, establishing the diagnosis of pulmonary pancreatic heterotopy. In the remaining pulmonary parenchyma, there were secondary changes consistent with partial obstruction and lymphangiectasis which was attributed to the presence of the cardiac malformation. To our knowledge, this is only the fourth reported case of heterotopic pancreatic tissue in the lung, and the first case where this bronchopulmonary foregut anomaly is not associated with a enteric duplication.     

Cardiac liposarcoma and bilateral ovarian mature teratoma in a patient with congenital heart disease and f-anisosplenia

A 10-year-old female with atrial septal defect presented with bilateral ovarian mature cystic teratomas. Three spleniculi adjacent to the main spleen were noticed while the endoscopic surgery. Two years later a heart tumor was discovered which led to death. Pathologic examination of samples of the mass proved it to be a liposarcoma. The unusual combination of atrial septal defect, f-anisosplenia (female, congenital heart disease, multiple unevenly-sized spleens, left lung type pulmonary isomerism), bilateral ovarian mature cystic teratomas and liposarcoma of the heart appears to be a unique presentation.     

Severe cystic pulmonary disease associated with chronicPneumocystis carinii infection in a child with AIDS

A 3-year-old HIV-positive boy developedPneumocystis carinii pneumonia (PCP) resulting inchronic interstitial pulmonary disease, which persisted for the following 3 years; he was essentially asymptomatic and the lung findings had therefore been attributed to lymphocytic interstitial pneumonia (LIP). He subsequently developed extensive cystic pulmonary disease, documented by CT, leading to recurrent pneumothorax and severe pulmonary insufficiency. Lung biopsy revealed chronic PCP infection associated with extensive pulmonary fibrosis and calcification. This case suggests thatPneumocystis carinii may cause chronic progressive pulmonary fibrosis with cyst formation and respiratory failure.     

"Primary" pulmonary Langerhans cell histiocytosis in a two-year-old child: case report and literature review

Langerhans cell histiocytosis (LCH) can involve multiple organs. "Primary" or isolated pulmonary LCH is a well-described entity in young adults but is exceedingly rare in children younger than 15 years of age. The authors report a new case in a 2-year-old girl and review other reported cases in the pediatric population. The patient had had respiratory symptoms since early infancy suggestive of hyperactive airway disease. At 2 years of age, she had severe pulmonary insufficiency with remarkable cystic changes noted on chest imaging studies. Biopsy of a pulmonary lesion confirmed the diagnosis of LCH. She had no other organ involvement. Pulmonary histiocytosis, though rare, should be considered in any child with chronic respiratory disease such as bronchial asthma, especially when the response to anti-asthma treatment is poor and/or there are cystic changes on the chest x-ray.