Sudden death due to bilateral spontaneous pneumothorax caused by rupture of congenital lung cysts

1990 ◽  
Vol 103 (5) ◽  
pp. 379-383 ◽  
Author(s):  
K. Simonsen
Keyword(s):  
Sudden Death ◽  
Spontaneous Pneumothorax ◽  
Lung Cysts ◽  
Congenital Lung Cysts

scholarly journals Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Keqiang Liu ◽  
Wenshuai Xu ◽  
Xinlun Tian ◽  
Meng Xiao ◽  
Xinyue Zhao ◽  
...  
Keyword(s):  
Clinical Features ◽  
Spontaneous Pneumothorax ◽  
Mutation Screening ◽  
Skin Lesions ◽  
Mrna Splicing ◽  
Mutation Spectrum ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Lung Cysts ◽  
Splicing Pattern

Abstract Background Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS patients and to systematically evaluate the effects of non-truncating mutations on mRNA splicing pattern. Methods We enrolled 47 patients from 39 unrelated families with symptoms highly suggestive of BHDS after informed consent and detailed clinical data were collected. Exon sequencing followed by multiplex ligation-dependent probe amplification testing were applied for mutation screening. The effects of non-truncating mutations, including 15 missense mutations and 6 in-frame deletions, on mRNA splicing were investigated by minigene assays. Results A total of 24 FLCN germline variants were found in 39 patients from 31 distinct families. Out of these patients, 100% (36/36) presented with lung cysts and 58.3% (21/36) had experienced spontaneous pneumothorax. Seventeen mutation carriers had skin lesions (47.2%, 17/36) and 9 (30%, 9/30) had kidney lesions including 8 with renal cysts and 1 with renal hamartoma. Among all detected variants 14 (58.3%, 14/24) were novel, including 11 variants classified to be pathogenic and 3 variants of uncertain significance. None of 21 non-truncating mutations changed the mRNA splicing pattern of minigenes. Conclusions We found different clinical features of Chinese BHDS patients compared with Caucasians, with more lung cysts and pneumothorax but fewer skin lesions and malignant renal cancer. Chinese patients with BHDS also have a different mutation spectrum from other races. Non-truncating mutations in FLCN did not disrupt mRNA splicing pattern, in turn supporting the hypothesis that these mutations impair folliculin function by disrupting the stability of the FLCN gene product.

Genetic basis of familial spontaneous pneumothorax and lung cysts in an Indian family

2015 ◽  
Author(s):  
Suman Paul ◽  
Anindita Ray ◽  
Bidyut Roy ◽  
Susmita Kundu
Keyword(s):  
Spontaneous Pneumothorax ◽  
Genetic Basis ◽  
Lung Cysts ◽  
Indian Family

scholarly journals Sudden Death after Spontaneous Pneumothorax

BMJ ◽  
1950 ◽  
Vol 2 (4681) ◽  
pp. 714-714 ◽  
Author(s):  
J. W. Buchanan
Keyword(s):  
Sudden Death ◽  
Spontaneous Pneumothorax

scholarly journals Lung Cysts, Spontaneous Pneumothorax, and Genetic Associations in 89 Families with Birt-Hogg-Dubé Syndrome

2007 ◽  
Vol 175 (10) ◽  
pp. 1044-1053 ◽  
Author(s):  
Jorge R. Toro ◽  
Stephen E. Pautler ◽  
Laveta Stewart ◽  
Gladys M. Glenn ◽  
Michael Weinreich ◽  
...  
Keyword(s):  
Spontaneous Pneumothorax ◽  
Genetic Associations ◽  
Lung Cysts

Childhood pleuropulmonary blastoma: Caution against nonoperative management of congenital lung cysts

1996 ◽  
Vol 31 (1) ◽  
pp. 187-190 ◽  
Author(s):  
Edward P Tagge ◽  
Denise Mulvihill ◽  
John C Chandler ◽  
Mary Richardson ◽  
Renan Uflacker ◽  
...  
Keyword(s):  
Nonoperative Management ◽  
Pleuropulmonary Blastoma ◽  
Lung Cysts ◽  
Congenital Lung Cysts

scholarly journals Quistes pulmonares congénitos en recién nacido. A propósito de un caso

Bionatura ◽  
2019 ◽  
Vol 4 (3) ◽  
pp. 939-941
Author(s):  
Pablo Olmedo ◽  
Sergio Poveda ◽  
Justina Crespo ◽  
Karla Andrade ◽  
Mayra Herrera ◽  
...  
Keyword(s):  
Diaphragmatic Hernia ◽  
Gestational Age ◽  
Lung Development ◽  
Clinical Case ◽  
Venous Drainage ◽  
Lung Cysts ◽  
Pulmonary Cysts ◽  
Left Base ◽  
Radiological Control ◽  
Congenital Lung Cysts

Congenital pulmonary malformations, especially congenital pulmonary cysts, are a heterogeneous group of alterations in lung development that can occur at different stages of embryogenesis, affecting the parenchyma, the arterial supply, the venous drainage or being a combination of them. A clinical case is presented where it analyzes the congenital pulmonary malformations in a newborn patient at the term of adequate weight for the gestational age, in the same as when entering the Neonatology service. To the radiological control in which an image of bubbles of air trapped in the left base is visualized, initial suspicion of diaphragmatic hernia, the same that is discarded at 24 hours, changing to a diagnosis of congenital pulmonary malformations. Congenital lung cysts.

scholarly journals CYSTIC PULMONARY HAMARTOMA MANIFESTING AS SPONTANEOUS PNEUMOTHORAX

2021 ◽  
Vol 29 (5) ◽  
pp. 624-628
Author(s):  
S.A. Plaksin ◽  
Keyword(s):  
Chest Pain ◽  
Histological Examination ◽  
Spontaneous Pneumothorax ◽  
Thoracoscopic Surgery ◽  
Left Lung ◽  
Lower Lobe ◽  
Shortness Of Breath ◽  
Lung Cysts ◽  
Pulmonary Hamartoma ◽  
Cystic Hamartoma

Cystic hamartoma refers to rare benign lung tumors. The literature describes 17 cases of this disease. The tumor may look like multiple bilateral cysts or a solitary single-chamber or multi-chamber cyst of a large size, which makes it difficult to diagnose. The disease can be complicated by spontaneous pneumothorax. The cyst itself often looks like a pneumothorax. An observation of a 52-year-old man complaining of chest pain and shortness of breath is presents. On the x-ray, the left lung is compressed with air, which is regarded as a spontaneous pneumothorax. Two-day drainage did not give any results. The video-assisted thoracoscopic surgery technique was performed and a large air cyst was detected. A conversion to a thoracotomy was made. A cyst of 20×15 cm size originated from the lower lobe, the lung was in atelectasis. Cyst resection and lung decortication were performed. Histological examination of the cyst wall revealed a hamartoma of the lung. The postoperative period was uneventful. Differential diagnosis of cystic hamartoma is conducting with lymphangioleiomyomatosis, air cysts, extrapulmonary sequestration, echinococcal cysts, and lung cancer. Indications for surgery are the following: chest pain, shortness of breath, pneumothorax, and hemoptysis. In a unilateral process, a cyst resection or lobectomy have to be performed. Cystic pulmonary hamartoma should be included in the differential diagnostic range in patients with recurrent spontaneous pneumothorax, hemoptysis, single and multiple lung cysts. It is impossible to determine the diagnosis without a biopsy and histological examination.

CONGENITAL LUNG CYSTS IN INFANTS

PEDIATRICS ◽  
1953 ◽  
Vol 12 (3) ◽  
pp. 283-287
Author(s):  
HAROLD M. ALBERT ◽  
WILLIS J. POTTS
Keyword(s):  
Diagnosis And Treatment ◽  
Emergency Operations ◽  
Lung Cysts ◽  
Congenital Lung Cysts

The diagnosis and treatment of congenital lung cysts producing severe symptoms are discussed. The cases of six infants form the basis of this report. All had such severe dyspnea and cyanosis that emergency operations were necessary. All six infants made uneventful recoveries. The youngest child was five days old.

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