Swyerjames syndrome sjs, also called macleod syndrome is a rare lung disorder found by english chest physician william mathiseon macleod, and simultaneously by physician paul robert swyer and radiologist george james in the 1950s in canada. Swyer syndrome genetic and rare diseases information center. Files are available under licenses specified on their description page. This syndrome is characterized by unilateral hyperlucency on chest radiography. Swyer james macleod syndrome sjms is a rare constrictive bronchiolitis with airflow obstruction and a decreased number and diameter of ipsilateral peripheral pulmonary vessels. The swyerjames macleods syndrome or unilateral hyperlucency of the lung frequently presents a diagnostic problem. Swyerjames syndrome sjs is a manifestation of postinfectious obliterative bronchiolitis. A highresolution ct scan of the chest can demonstrate a decrease in the size of the vessels and air. Swyer james macleod syndrome sjms, first reported in 1953 and 1954, is a rare cause of a unilateral hyperlucent hemithorax. Swyer syndrome is a type of intersex condition, where there is a discrepancy between the external genitals and the internal genitals. Hermaphroditism is an older term taken from the names of greek gods hermes and aphrodite used to mean a person is both fully male and fully female a physiological impossibility. A case of swyerjamesmacleod syndrome associated with middle. Swyerjames macleod syndrome images, diagnosis, treatment. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services.
After thorough examination and investigations including chest xray and cect chest, a diagnosis of. Pdf the aim of this study is to describe the clinical and imaging features of swyerjamesmacleod syndrome sjms in 9 adults. Swyer james macleod syndrome sjms is a rare lung disorder characterized by unilateral hyperlucent lungs. This condition is due to a mutation which inhibits the function of the yborne determinant that would normally cause the indifferent embryonic gonad to differentiate into a testis. Anesthetic implications for patients with swyerjames syndrome mark m smith, md, david w barbara, md, benjamin c smith, md, juraj sprung, md, phd, and toby n weingarten, md objective. We report a case of a previously healthy young woman that presented with insidious progression of exertional dyspnea with restrictive lung physiology. Swyerjames macleod syndrome sjms is a rare condition characterized by unilateral hyperlucency of part of whole of lung which.
Swyer james macleod syndrome is a rare condition characterized by hyperlucency of one lung, lobe or part of a lobe due to decreased vascularity and air. Jun 03, 2019 swyer syndrome is a condition in which people with one x chromosome and one y chromosome normally present in males have a female appearance. The swyerjames syndrome unilateral hyperlucent lung is a condition which likely has its origin during childhood. Swyerjamesmacleod syndrome presenting with pulmonary. Swyer syndrome usually affects only sexual development. A 79 year male patient presented to us with a history of fever, cough with expectoration, breathlessness on exertion increased since 10 days. Medlineplus health information additional nih resources national institutes of health national center for biotechnology. Swyer syndrome medigoo health tests and free medical. Swyerjamesmacleod syndrome or unilateral hyperlucent lung.
The aim of this study was to describe the anesthetic management and perioperative outcomes in patients with swyerjames syndrome sjs, a rare acquired. A year later, macleod reported a series of 9 cases with unilateral hyperlucency. For the first time, this syndrome was defined by swyer and james in 1953 in a 6yearold boy with unilateral emphysema treated with pneumonectomy. It may be the result of rotation away from an optimal. Computed tomography provides useful additional information. Here we report the case of a 53yearold caucasian woman with swyer james macleod syndrome found in the. The male gonads undergo rapid and early degeneration, which appear in the adult as streak gonads consisting mainly of fibrous tissue and ovarian stroma. Swyer syndrome in a woman with pure 46, xy gonadal dysgenesis. Swyerjames syndrome genetic and rare diseases information.
Swyer syndrome is classified as a disorder of sex development dsd, which encompasses any disorder in which chromosomal, gonadal or anatomic sex development is abnormal. Swyer james macleod syndrome, also named unilateral hyperlucent syndrome, is a rare condition which was first described by swyer and james in 1953 followed by macleod in 1954. Swyerjames syndrome swyerjames syndrome sjs, also known as swyerjamesmacleod syndrome and bret syndrome, is a rare lung condition that manifests as unilateral he. Swyerjames syndrome is a manifestation of postinfectious obliterative bronchiolitis.
It typically presents as an incidental finding on cxr performed for unrelated reasons. You may find the following resources about swyer syndrome helpful. Adenovirus types 3, 7, and 21 have been implicated most commonly, but other infectious etiologies include. Swyerjames macleod syndrome is an acquired form of unilateral hyperlucency of the lung and is characterized by the development of severe emphysema, bronchiectasis, andor bronchiolitis obliterans. Mycoplasma pneumoniae, parainfluenza virus types, influenza virus types a and b, respiratory syncytial virus, measles. However, depending on the genetic cause, swyer syndrome may also occur along with health conditions such as nerve problems neuropathy or as part of a syndrome such as campomelic dysplasia, which causes severe skeletal abnormalities.
Although many of these children are asymptomatic, symptoms of chronic and repeated infections, decreased exercise tolerance, arterial blood desaturation, and hemoptysis may arise. From this date on, the disease was defined as swyer james macleod syndrome sjms. May 26, 2010 invasive and semiinvasive pulmonary aspergillosis usually occurs in immunocompromised patients. Swyerjames syndrome sjs is a rare syndrome characterized by hyperlucency of one or more lobes of the unilateral lung and decreased. Jan 16, 2017 swyer james macleod syndrome sjms, first reported in 1953 and 1954, is a rare cause of a unilateral hyperlucent hemithorax. Swyer james syndrome sjs, also known as swyer james macleod syndrome and bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis. Swyerjames syndrome sjs, also known as swyer james macleod syndrome and bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis.
Swyerjamesmacleod syndrome the american journal of. Unilateral hypertranslucent hemithorax unilateral hypertranslucent hemithorax has many potential causes. Swyerjamesmacleod syndrome presentating as pneumothorax. On closer examination, note how many fewer pulmonary blood vessels there are on the left than the right. Swyer syndrome is characterized by a 46 xy karyotype pic. Mar 30, 2020 swyer syndrome is a rare genetic disorder that causes the affected person to have the physical appearance of a female and the chromosomal makeup of a male. Swyerjamesmacleod syndrome as a rare cause of unilateral h.
Conservative symptomatic management is the mainstay of treatment for. In most patients with swyerjamesmacleod syndrome, treatment is managed by chest physiotherapy, lowdose inhaled corticosteroids, and inhaled. The lung served by the damaged airways is aerated by collateral air drift through the pores of kohn. Swyerjamesmacleod syndrome is a rare form of postinfectious bronchiolitis obliterans. The progression of swyerjames syndrome american journal of. It is typically diagnosed after a chest xray or ct scan which shows unilateral pulmonary hyperlucency one lung appearing less dense and diminished pulmonary arteries. In sjs, the involved lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung. Swyerjamesmacleod syndrome sjms is a rare etiology of a. All structured data from the file and property namespaces is available under the creative commons cc0 license. Notice the left hemithorax is more lucent than the right. It is an exclusion diagnosis, suspected on chest xray and confirmed by computerized tomography. Pdf clinical spectrum of swyerjamesmacleod syndrome in adults.
Initially described in 1953swyer and james in pediatric patients 1 and a year later in several adults by mcleod, it has been reported. It is a relatively uncommon entity, occurring in 3. Most patients do not develop symptoms while the remaining exhibit a productive cough, hemoptysis, exertional dyspnea, and decreased exercise tolerance. It has been described occasionally in patients with normal immunity and previous lung disease such as chronic obstructive pulmonary disease. Swyer james syndrome, also known as unilateral hyperlucent lung syndrome, refers to the manifestation of postinfectious obliterative bronchiolitis. People with swyer syndrome are typically raised as females, have a female gender identity, and have typical female external genitalia. The diagnosis is usually made in childhood but sometimes occurs in adulthood. Semiinvasive aspergillosis in an immunocompetent patient. It is characterized by hypoplasia andor agenesis of the pulmonary arteries resulting in pulmonary parenchyma hypoperfusion.
Swyerjames syndrome definition of swyerjames syndrome by. Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. This page was last edited on 8 october 2019, at 09. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for swyerjames syndrome. Another patient with swyer james syndrome, this time of the left lung. Swyerjamesmacleod syndrome sjms is a rare condition characterized by unilateral hyperlucency of a part of or the entire lung which was first described in 1953 by swyer and james 1,2, and further detailed by macleod. Jan 04, 2011 swyer james macleod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. Swyerjames syndrome unilateral hyperlucent lung in. Sjms treatment includes the early control of lung infections as well as. Swyer syndrome in a woman with pure 46, xy gonadal dysgenesis and a hypoplastic uterus azidah ak, nik hazlina nh, aishah mn azidah ak, nik hazlina nh, aishah mn. Swyer syndrome is a rare disorder characterized by the failure of the sex glands i. Oct 21, 2011 swyer james syndrome is a rare condition in which the lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. Swyer syndrome is also knowns as gonadal dysgenesis is characterized by streak gonads is a phenotypic female with a 46,xy karyotype.
Swyerjames syndrome is a rare condition in which the lung or portion of the lung does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. Pneumonectomy in a patient with swyerjamesmacleod syndrome. Anesthetic implications for patients with swyerjames syndrome. Pdf swyerjamesmacleod syndrome sjms is a rare etiology of a unilateral hyperlucent hemithorax but an important one, which should be. A person with this disorder is typically raised as a female due to the normal appearance of female genitalia and the presence of a uterus and fallopian tubes. Swyerjames macleod syndrome 5 article pdf available. A person diagnosed with swyer syndrome is a female with altered genetic information containing male sex chromosomes. Swyer james or macleod syndrome is a postinfectious constrictive bronchiolitis that is usually the sequelae of severe childhood pneumonia. Swyer james macleod syndrome is a rare disease that results in parenchymal damage believed to be caused by recurrent lung infections in childhood. Presents as an incidental finding on chest xray, with chronic symptoms or acutely, with lung infection or acute pneumothorax. Swyer james macleod syndrome or unilateral hyperlucent lung syndrome is a rare entity associated with postinfectious bronchiolitis obliterans occurring in childhood. Swyer james macleod syndrome sjms or unilateral hyperlucent syndrome is an uncommon disease believed to occur as a result of infectious bronchiolitis obliterans in infancy or early childhood. Swyer syndrome nord national organization for rare disorders. Mar 05, 2019 swyer james syndrome sjs is a manifestation of postinfectious obliterative bronchiolitis.
Swyerjames syndrome definition of swyerjames syndrome. Swyer james macleod syndrome is an acquired form of unilateral hyperlucency of the lung and is characterized by the development of severe emphysema, bronchiectasis, andor bronchiolitis obliterans. Swyer james also known as macleod syndrome is a form of bronchiolitis obliterans, which occurs secondary to injury to the immature lung. A case of unilateral hyperlucent lung ats journals. It is considered to be an acquired disease secondary to viral bronchiolitis and pneumonitis in childhood.