Familial pulmonary valve stenosis, atrial septal defect, and unique electrocardiogram abnormalities.

The familial association of pulmonary stenosis, atrial septal defect, and unique electrocardiographic abnormalities involving a mother and two children is reported. Familial pulmonary stenosis not occurring as part of a named syndrome or without associated multiple congenital abnormalities is rare. The constellation of pulmonary stenosis, atrial septal defect, and the particular electrocardiogram abnormalities present here is to our knowledge previously unreported. The pattern of inheritance is consistent with an autosomal dominant mode of transmission.     

Transformation of the fungus ball type pulmonary aspergillosis]

Though the concept of semi-invasive pulmonary aspergillosis was advocated in 1981 by Gefter et al., its histopathological appearance has not yet been reported in detail. Pathological studies on fungus ball type pulmonary aspergillosis (PA) were originally made mainly in regard to related bronchi. Chronic-progressive destructive changes cannot be completely explained from this viewpoint alone. Clinically, since bloody sputum and hemoptysis appeared frequently, further studies on the pulmonary vasculature were considered necessary. In the resected lungs of 3 cases of semi-invasive pulmonary aspergillosis, the pathological features of pulmonary vasculature were characterized by numerous fungal clots within pulmonary arteries and veins, marked destruction of pulmonary blood vessels and extensive intravascular fibrin deposition. Intravascular fibrin deposition causes stasis of blood flow, promotes intravascular proliferation of aspergilli and probably accelerates pulmonary destruction caused by blood stasis. Important pathological findings of fungus ball type pulmonary aspergillosis of the semi-invasive subtype with clinical aspects of chronic-progressive lung destruction caused by severe inflammation, were reported for both the vascular and the bronchial system.     

In utero development of hypertensive necrotizing pulmonary arterial lesions: report of a case associated with premature closure of the ductus arteriosus and pulmonary hypoplasia.

Premature closure of the ductus arteriosus (PCDA) is an uncommon defect in which pulmonary hypertension (PH) has been documented by echocardiography in patients and by direct measurement after experimental PCDA in animals. The pulmonary vascular histology in human cases has received little attention but in the few recorded observations the vessels were either normal or showed increased muscularity. We report the case of a 31 week hydropic female stillborn monozygotic twin in whom postmortem examination disclosed PCDA and hypoplasia of the lungs. Atypical plexiform lesions with necrotizing pulmonary arteritis were present. These lesions represent vascular consequences of severe pulmonary hypertension produced by greatly enhanced blood flow through a restricted vascular bed resulting from the combined effects of these two abnormalities. The findings in this case of PCDA with presumed severe PH indicate that severe pulmonary vascular changes can develop in utero and that the interval of time needed for development of such chances in secondary PH is relatively short.     

Chromosome 22q11 deletion complicated by dissecting pulmonary arterial aneurysm and jejunal atresia in an infant

We present an autopsy case of a 46-day-old male infant with chromosome 22q11 deletion, which is considered the primary cause of several diseases, including DiGeorge syndrome and velocardiofacial syndrome. The patient had 2 notable congenital abnormalities: multiple dissecting pulmonary arterial aneurysms distributed in both lungs and multiple jejunal atresia with apple-peel deformity. The former, a very rare pathologic condition especially in infancy, was found incidentally at autopsy and was the primary cause of death. To our knowledge, neither of these lesions has been reported previously in a patient with chromosome 22q11 deletion.     

The pulmonary pathologic manifestations of the CREST syndrome

This report evaluates the histopathologic alterations of a series of 17 patients with the CREST syndrome and relates these alterations to clinical and functional abnormalities. Histologic abnormalities were classified into the following four distinct patterns: pulmonary vascular changes, primarily intimal fibroelastosis, associated with and without pulmonary hypertension; a pattern of fibrosis indistinguishable from usual interstitital pneumonia (UIP); small airways disease; and mixtures of these three patterns. Five patients (29%) had clinical and morphologic pulmonary hypertension, while five others showed mild reductions in diffusing capacity, presumably due to vascular compromise. Five patients had UIP-like interstitial fibrosis, with vascular alterations and restrictive lung disease. Only one patient had small airways disease exclusively. Concentric fibrointimal proliferation and occlusion of arterioles was worse in patients with clinical pulmonary hypertension and interstitial fibrosis of the UIP type, and was not always associated with pulmonary fibrosis. Twenty-one percent of patients developed primary lung carcinomas. The CREST syndrome is unique in the spectrum of pulmonary alterations seen in progressive systemic sclerosis for its high incidence of clinical pulmonary hypertension and propensity for the development of pulmonary carcinomas.     

Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis

Adams-Oliver syndrome (AOS) is a rare disease characterized by congenital scalp defects, terminal transverse limb defects and cutis marmorata telangiectatica. A significant incidence of cardiac and vascular malformations has been reported, leading to the hypothesis of a vascular defect early involved in the pathogenesis. We report two members of the same family with previously diagnosed AOS based on clinical phenotype and later recognized to have pulmonary arterio-venous malformation (PAVM). None of the subjects fulfilled current diagnostic criteria of hereditary hemorrhagic telangiectasia, which is the most common cause of PAVM. The occurrence of PAVM in AOS lends support to the hypothesis that endothelial specific abnormalities could be a patho-physiological mechanism in its development. Therefore, the role of screening for PAVM in clinical management of subjects with AOS should deserve further studies.     

Carcinoma of the lung and diffuse interstitial pulmonary fibrosis

The clinical and histopathological findings are presented in two cases of diffuse interstitial pulmonary fibrosis in which carcinoma of the lung developed. In one case with rheumatoid arthritis and diffuse interstitial pulmonary fibrosis there was ;malignant pulmonary adenomatosis', an association which does not appear to have been reported before. In the second case idiopathic diffuse interstitial pulmonary fibrosis was complicated by large cell anaplastic carcinoma of the lung.It is suggested that in both cases the development of carcinoma of the lung was a complication of the epithelial hyperplasia and scarring that occurs in diffuse interstitial pulmonary fibrosis.It is also suggested that carcinoma found in the main bronchi in patients with diffuse interstitial pulmonary fibrosis should not be regarded as coincidental unless careful search has excluded a carcinomatous change in the periphery of the scarred lungs.     

Primary pulmonary rhabdomyosarcoma: A case report and review of the literature

Although several primary pulmonary neoplasms containing striated muscle fibers have in the past been described as rhabdomyoma or rhabdomyosarcoma, it was not until 1939 that McDonald and Heather described the first acceptable case of this neoplasm. Since then 13 such cases have been reported in the world literature.Previously reported cases of the neoplasm are reviewed and the salient features described. The origin of the striated muscle fibers has been much debated. Some believe that they develop from myoblastic differentiation of primitive mesenchymal cells or metablastic transformation of pleuripotential mesenchymal cells present in the bronchial walls and pulmonary interstitium, whereas others claim that they develop from misplaced striated muscle tissue from the pharyngeal or esophageal region.A case report of the pleomorphic type of primary pulmonary rhabdomyosarcoma with multiple hematogenous metastases is presented as well as a review of the literature with a discussion of the histogenesis.     

Monitoring early inflammation in CF. Infant pulmonary function testing

Infant pulmonary function tests (iPFTs) have primarily been used as research tools to further define physiologic pulmonary abnormalities in infants and young children with cystic fibrosis (CF). Methodologies used to measure pulmonary function in infants are described, with particular relevance to CF. A comprehensive review of studies and findings in CF infants using iPFTs is presented. Further goals in improving methodologies and in defining pulmonary disease in CF are presented.     

Lymph node pathology in pulmonary veno-occlusive disease and pulmonary capillary heamangiomatosis

To assess the histological bases of lymphadenomegaly, which has been reported as a frequent radiological finding in pulmonary veno-occlusive disease (PVOD), we have reviewed pulmonary and mediastinal lymph nodes resected during lung transplantations in 19 patients suffering from PVOD and related pulmonary capillary haemangiomatosis (PCH). Lymphatic congestion was common and was often obvious in subsegmental and segmental lymph nodes. Vascular transformation of the sinuses, intra-sinusal haemorrhage with erythrophagocytosis and lymphoid follicular hyperplasia were frequent especially in lobar, hilar and mediastinal lymph nodes. These lesions were very significantly less frequent in 33 cases of pulmonary hypertension unrelated to PVOD. Due to their thoracic location, these non-specific lesions could simulate other diagnoses such as Castleman disease or lymphangioleiomyomatosis. However, in the setting of pulmonary hypertension, they should suggest PVOD and PCH. They are probably secondary to venous congestion, veno-lymphatic shunts and angiogenetic factors associated with these diseases.     

Atypical pulmonary artery sling with diffuse-type pulmonary arteriovenous fistula

The case of a cyanotic infant with a rare combination of atypical pulmonary artery sling, imperforate anus, absence of the left kidney, interruption of the inferior vena cava, left side hemihypertrophy and diffuse-type pulmonary arteriovenous fistula is described. The clinical features were confusing, because of compounding abnormalities involving the respiratory tract and pulmonary circulation. The diagnostic approach to the etiology of cyanosis is discussed and the embryonic origin of pulmonary artery sling is reviewed.     

Relationship between the result of preoperative pulmonary function test and postoperative pulmonary complications

Good preoperative screening and evaluation of patients undergoing surgery is necessary because it serves to identify the individual who is at risk of increased intra-operative and postoperative morbidity and mortality. The retrospective study was done in an attempt to determine if abnormalities in preoperative pulmonary function, detected by routine pulmonary function tests, would predict which patients would suffer from pulmonary complications following surgery. Pulmonary complications in the postoperative period included fever, atelectasis and respiratory failure. The overall incidence of pulmonary complications from our 78 patients undergoing surgery was 37 percent based on clinical criteria. This incidence was high in patients with FEV1 less than 1.0 L/sec, MVV less than 40% of predicted value and PCO2 more than 45 mmHg.     

Nodular regenerative hyperplasia of the liver associated with primary pulmonary hypertension

Nodular regenerative hyperplasia (NRH), a rare hyperplastic condition of the liver, is reported in two patients with primary pulmonary hypertension (PPH). The first patient was a 26-year-old man who died of PPH and showed multiple NRH without cirrhosis of the liver. The second patient was a 25-year-old man who had a PPH with pulmonary arterial thrombi and NRH of the liver. NRH has been described in association with immune disease, hematopoietic disorder, and diabetes mellitus, so that NRH with PPH is considered to be very rare. Histologic findings of the lungs show typically plexogenic pulmonary arteriopathy in both cases, and the livers of these patients are composed of multiple nodules that are histologically represented by slightly larger hepatocytes arranged in a cobblestone-like fashion, and are ultramicroscopically characterized by massive proliferation of mitochondria. The pathogenetic association of nodular regenerative hyperplasia with primary pulmonary hypertension will be discussed.     

Ultrastructural features of the distended pulmonary arteries of the normal rat

Detailed study has been made of the structure of the normal pulmonary artery of rat by both light (1-μ sections) and electron microscopy. After tying the pulmonary veins at the hilum, the lungs were fixed by simultaneous injection of glutaraldehyde into the pulmonary trunk and trachea. Study of distended arteries allows precise measurement and assessment of normal lung structure. Four regions of the pulmonary artery can be identified by wall structure and are described here-muscular, partially muscular, non-muscular and the newly described thick-walled oblique muscular. Electron microscopic examination has demonstrated in the non-muscular regions of the partially muscular arteries, an “intermediate” cell and in the non-muscular arteries, a pericyte. The intermediate cell lies internal to the single elastic lamina but external to the endothelial cell, is surrounded by its own basement membrane and contains filaments mainly along the adluminal region of the cell. The pericyte also lies internal to the single elastic lamina, is within the basement membrane of the adjacent endothelial cell and has previously been reported in the lung only in the walls of alveolar capillaries. The structure of the intermediate cell and its position suggest it is a transitional stage between the pericyte and smooth muscle cell.     

Plexogenic pulmonary hypertension associated with intravenous cocaine abuse

Intravenous drug abuse related plexogenic pulmonary hypertension unassociated with recurrent thromboembolism or foreign-body granulomatous disease of the lung has not been previously reported. Herein, we describe the occurrence of fatal plexogenic pulmonary hypertension in a 33-year-old Hispanic woman who had a history of chronic intravenous drug abuse. In the absence of other known causes, cocaine-induced chronic vasoconstriction was the most probable pathogenic mechanism of plexogenic pulmonary hypertension in this patient.     

A microscopic adenocarcinoma of the stomach with pulmonary tumor thrombotic microangiopathy in a 17-year-old male

Pulmonary tumor thrombotic microangiopathy (PTTM), characterized by widespread fibrocellular intimal proliferation of the small pulmonary arteries and arterioles in patients with metastatic carcinomas, has been reported in only few cases. In childhood, gastrointestinal tumors represent less than 5% of pediatric neoplasms, and carcinomas within this subgroup have been very rarely described, in particular those arising in the stomach. We report on a case of a microscopic gastric signet-ring cell carcinoma identified by serial step sections through the entire stomach at autopsy. The patient was a 17-year-old high school student with severe dyspnea and marked pulmonary hypertension due to PTTM. Although the combination of PTTM with gastric cancer is very rare in childhood, it should be considered in the differential diagnosis of primary pulmonary hypertension and progressive respiratory failure, as indicated by a review of previously reported cases.     

Patent ductus arteriosus and pulmonary valve stenosis in a patient with 18p deletion syndrome

We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.     

Localized pulmonary disease due to Trichosporon beigelii.

A case of pulmonary infection caused by Trichosporon beigelii is reported. The infection occurred in a neutropenic patient with acute lymphoblastic leukemia. His chest radiograph showed a 6-cm pulmonary infiltrate in the right midzone and an apical infiltrate on the left. Repeated cultures of bronchoalveolar lavage grew budding yeast that was identified as T beigelii on the basis of morphological, cultural, and biochemical characteristics. He responded to amphotericin-B therapy. Systemic infections caused by this yeast are rare and its causal relationship in localized lung disease has been reported only seven times previously.     

Vascular leiomyoma of the lung arising from pulmonary artery

Leiomyoma of the lung is extremely rare. The entity is not described in WHO blue book. Less than 100 cases of leiomyoma of the lung have been reported in the literature. However, vascular leiomyoma has not been reported in the literature, to the author’s best knowledge. Herein reported is the first case of vascular leiomyoma of the lung arising from smooth muscles of the pulmonary artery. A 62-year-old woman (non-smoker) was found to have a small tumor in the upper lobe in the right lung in routine check. Imaging modalities including CT demonstrated no metastatic lesions. Although clinical cytology and biopsy revealed no malignant cell, right upper lobectomy was performed under the clinical diagnosis of lung carcinoma. Grossly, a white tumor of 1 x 0.8 cm was recognized in the lung. Microscopically, the tumor was connected to the pulmonary arteries. The tumor was composed of mature smooth muscles. Small pulmonary arteries are embedded in the tumor. No lymphatics were seen. Immunohistochemically, the tumor cells were poisitive for alpha-smooth muscle actin, vimentin and Ki-67 (labeling 2%). However, they were negative for cytokeratin (CK) AE1/3, CK CAM5.2, desmin, S100 protein, p53, CD34, KIT, HMB45, estrogen receptor, progesterone receptor, and myoglobin. A pathological diagnosis of primary vascular leiomyoma arising from the smooth muscle of pulmonary artery was made. The patient is now free from tumor, and is now alive 10 year after the operation.