Respiratory Syndromes

Introduction

A syndrome is a group of signs and symptoms of disease occurring together. Many syndromes include manifestations due to developmental or acquired abnormalities of the respiratory tract. A brief description of various respiratory syndromes is discussed below alphabetically.

Acute chest syndromes

A group of symptoms occurring in patients with sickle cell disease, that develop due to a bacterial infection or infarction of the lungs are acute chest syndromes.

Acute respiratory distress syndrome

Acute respiratory distress syndrome (ards) is the most severe form in the continuous spectrum of acute lung injury (ali) exhibiting severe hypoxemia with PaO₂ / FiO₂ < 200 mmHg regardless of peak end-expiratory pressure (peep) used. All patients with ards have ali, but not all patients with ali have ards. Ards accounted for a large number of deaths during the coronavirus disease- 2019 (Covid-19) pandemic.

Andersen’s syndrome

A condition described by American pathologist, Dorothy Andersen; characterized by bronchiectasis, cystic fibrosis of the pancreas, and vitamin a deficiency.

Ardyatilt syndrome

Sudden toxicity may be noted after weeks or months of exposure to acramin textile dyes. It manifests with rapidly progressive bronchiolitis obliterans organizing pneumonia (boop) and is often associated with demyelination.¹

Ayerza’s syndrome

A condition of plexogenic pulmonary arteriopathy described by an Argentine physician, Abel Ayerza; characterized by pulmonary hypertension with dilatation of pulmonary arteries due to disease of the lungs.

Bazex’s syndrome

Bazex’s syndrome is a paraneoplastic skin lesion developing in association with primary carcinoma, especially in the upper airways. 

Birt-Hogg-Dube syndrome

An autosomal dominant cancer with renal masses and lung cysts that may present with skin nodules. There is an increased incidence of pneumothorax.² Renal lesions show chromophobe histology.

Blesovsky’s syndrome

Very rarely pleural thickening leads to distortion and atelectasis of underlying lungs with infolding of the pleura. It gives an appearance resembling a tumor and many times requires surgery.

Brocks’ syndrome

The persistent collapse of the segment or lobe often in the middle lobe of the lung and enlarged hilar tuberculous lymph nodes may give rise to subsequent bronchiectasis. The condition has been named after Russel Broke, Uk surgeon who described it. (See middle lobe syndrome)

Bronchiolitis obliterans syndrome

Bronchiolitis obliterans syndrome is a distinct clinical entity occurring in the transplanted lung. It primarily involves the small airways.

Caplan syndrome

Caplan syndrome is a relatively uncommon condition with the presence of single or multiple, well-defined spherical opacities with sizes varying from 0.5 to 5 cm in diameter in the lungs. It appears in the background of a coal worker’s pneumoconiosis.³

Carcinoid syndrome

A syndrome associated with carcinoid tumors characterized by severe cyanotic flushing of the skin, watery diarrhea, bronchial asthma, heart murmurs on the left side, sudden fall of blood pressure, edema, and ascites due to secretion of 5-hydroxy tryptamine.

Cepacia syndrome

Burkholderia cepacia may develop as an opportunistic pathogen in cystic fibrosis.⁴ The infection is fulminating pneumonia, and potentially fatal in 20 % of the colonized patients.

Chediak-Higashi syndrome

Chediak-Higashi syndrome is an autosomal recessive disorder in which neutrophils, lymphocytes, and monocytes contain basophilic staining cytoplasmic inclusion bodies. The patients exhibit increased susceptibility to recurrent skin abscesses and progressive lung disease.

Churg-Strauss syndrome

Churg and Strauss (1951) described a pathological syndrome with allergic-granulomatosis and angiitis.⁵ This is a very rare condition and is characterized by diffuse vasculitis affecting all major organ systems, which is invariably accompanied by severe asthma.

Costopleural syndrome

Pleural mesothelioma is a malignant tumor involving the pleura, associated with previous asbestos exposure. The presenting features in most patients are chest pain or dyspnoea. The chest pain may be pleuritis, dull or diffuse which progresses without any relief during the course of the disease.⁶ The severe intractable pain in mesothelioma is referred to as costopleural syndrome.

Crest syndrome

It is a pulmonary vascular disease that is common in systemic sclerosis. It is caused by concentric fibrosis of small arterioles. There can be associated features such as calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias, referred to as crest syndrome. Extensive damage to the pulmonary vascular bed increases the risk of pulmonary hypertension.

Dyskinetic cilia syndrome

Kartagener gave a detailed description of a triad-situs inversus, sinusitis, and bronchiectasis.⁷ The condition is accompanied by immotile spermatozoa and cilia. It was referred to as immotile cilia syndrome. Since the cilia do move, but in an uncoordinated and ineffective way, hence named dyskinetic cilia syndrome or primary ciliary dyskinesia.⁸

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a genetic disease with abnormal connective tissue composition. The condition is associated with hyper-extensibility of the joints and hyperelasticity of the skin. There may be bullous emphysema and chest wall defects.

Eosinophilic-myalgia syndrome

The dietary ingestion of contaminated l-tryptophane was responsible for an epidemic Eosinophilic-myalgia syndrome.⁹ The condition appears to be a reaction to a contaminant. The clinical features include myalgia, arthralgias, skin rashes, muscle pain, edema, fatigue, neuropathy, and marked peripheral eosinophilia. 

Folded lung syndrome

Rounded atelectasis

Fryn's syndrome

Autosomal, recessive, multiple congenital anomalies that are usually lethal in neonates. The condition is associated with a diaphragmatic hernia, pulmonary hypoplasia, imperforate anus, micropenis, and agenesis of the sacrum.

Goodpasture’s syndrome

Goodpasture’s syndrome is an example of a type-2 cytotoxic antibody-mediated reaction. It exhibits a combination of pulmonary hemorrhage and rapidly progressive glomerulonephritis. A new term ‘antiglomerular basement membrane antibody disease’ has been proposed for this condition. It characterizes pulmonary hemorrhage with or without associated glomerulonephritis due to circulating antibodies directed against basement membrane epitopes.¹⁰

Gorham’s syndrome

Gorham’s syndrome refers to an unusual disorder characterized by an introsseous proliferation of vascular or lymphatic channels leading to progressive osteolysis. The condition involves the chest wall that terminates fatally.11 Some patients may demonstrate chylothorax.

Hamman’s syndrome

Pneumomediastinum described by Louis Hamman, an american physician.

Hamman-Rich syndrome

Acute interstitial pneumonitis (aip) is an acute fulminant lung injury due to idiopathic diffuse alveolar damage. The patients develop rapidly progressive hypoxaemia and respiratory failure that requires mechanical ventilation. The condition was initially described by Hamman-Rich as a rapidly progressive and typically fatal form of pulmonary fibrosis. The condition is now renamed as a distinct form of idiopathic pulmonary fibrosis.

Hantavirus pulmonary syndrome

Hantavirus is a tri-segmented, negative-stranded rna virus belonging to the bunyaviridae family. It is maintained in nature in rodent reservoirs. Hantavirus is the causative agent of pulmonary illness referred to as hantavirus pulmonary syndrome (hps).

Hermansky-Pudlak syndrome

An autosomal recessive disorder found in inhabitants of Puerto Rico and southern Holland. The disease is characterized by an accumulation of chromolipid ceroid related to lipofuscin in the reticuloendothelial system. It results in partial tyrosine-negative oculo-cutaneous albinism and a qualitative platelet deficiency. In addition, there is granulomatous colitis and progressive pulmonary fibrosis.¹²

Hughes-Stovin syndrome

Hughes-Stovin syndrome is a rare condition presenting with aneurysms of the large and small pulmonary arteries, and thrombosis of peripheral veins and dural sinuses in young men. Often the condition is associated with congenital heart disease and features of Behcet’s disease.¹³

Hypereosinophil syndrome

Hypereosinophil syndrome is a peripheral and bone marrow eosinophilia with infiltration of multiple organs by mature eosinophils. It affects the heart, lungs, skin, muscle, intestine, and central nervous system (cns). The aetiology is undetermined. The manifestations are caused by eosinophils invading the tissues.

Hyperlucent lung syndrome

A syndrome simulating localized emphysema due to congenital absence or hypoplasia of pulmonary arteries. There may be lobar or segmental agenesis.

Hyperventilation syndrome

Hyperventilation syndrome is a behavioural breath lessness that occurs in attacks. The condition causes a variety of symptoms due to hypocapnia and alkalosis and it is interpreted as hyperventilation syndrome.

Hypogenetic lung syndrome

Pulmonary malformation with the absence or hypoplasia of one or more pulmonary lobes is referred to as hypogenetic lung syndrome. The right lung is almost always involved and the upper lobe is most commonly affected. Systemic arterial supply is from the thoracic or abdominal aorta. The pulmonary venous anatomy is normal.

Idiopathic pneumonic syndrome

Idiopathic pneumonic syndrome (ips) refers to a diffuse lung injury following bone marrow transplantation.

Influenza-like syndrome

Rifampicin is well tolerated by most patients suffering from tuberculosis. However, it may produce adverse reactions, hence the necessity of careful supervision during its therapy. The adverse reactions are more frequently noted in an intermittent regimen with high doses and with longer intervals of administration than with a daily regimen with a low dose.¹⁴. One of the adverse reactions is in the form of an influenza-like syndrome that presents with fever, chills, malaise, headache, myalgia, dizziness, breathlessness, wheeze, and shock.¹⁵

Job’s syndrome

Job’s syndrome is referred to as hyper immunoglobulin (Ig) syndrome. It is associated with poor antibody and cell-mediated responses to neoantigens. The neutrophil function is defective. The levels of serum ige and igd are markedly elevated. The patients exhibit increased susceptibility to severe staphylococcal abscesses of the lung.

Kartagener’s syndrome

Kartagener’s syndrome is a hereditary disease, presenting with a combination of dextrocardia (situs inversus), bronchiectasis, and sinusitis. The condition is transmitted as an autosomal recessive condition. The condition was described by a Swiss physician, Manes Kartagener.

Kline-Levin syndrome

Kline-Levin syndrome is a rare disorder causing recurrent episodes of hypersomnolence lasting from several days to weeks at a time. The condition recurs once or twice a year. It mostly occurs in adolescents. These individuals exhibiting prolonged sleeping may exhibit bouts of binge eating and increased sexual activity. The condition makes a gradual improvement with time.

Lady Windermere’s syndrome

A higher incidence of bronchiectasis has been noted in recent years. It is associated with Mycobacterium avium infection. The disease is named after a character, Lady Windermere, in a novel by Oscar Wilde. Women in the effort to be demure and elegant, voluntarily suppress their cough leading to the accumulation of secretions that results in chronic infections.¹⁶

Lemierre’s syndrome

Lemierre’s syndrome is an unusual type of anaerobic infection caused by a member either of the Fusobacterium or Bacteroides genera. Young adults are frequently susceptible to infection. The pharynx is the primary focus of infection from which there is septicaemic spread to the bones, joints, lungs, and pleura.¹⁶

Leredde’s syndrome

A condition associated with severe dyspnoea from advanced emphysema seen in children with congenital syphilis is Leredde’s syndrome.

Loeffler’s syndrome

Loeffler’s syndrome is acute pulmonary eosinophilia associated with helminths infestation such as ascariasis, ankylostomiasis, and strongyloidiasis. The condition is noted during the larval migration through pulmonary parenchyma.

Lofgren’s syndrome

Erythema nodosum develops as painful nodular panniculitis and vasculitis and it is found in the lower extremities. The condition when associated with bilateral hilar adenopathy of sarcoid with arthralgia is referred to as lofgren’s syndrome. It was described by sven lofgren in 1946 as a distinct subgroup of sarcoidosis.

Macleod’s syndrome

See Swyer James syndrome

Mandor’s syndrome

Superficial ‘jumping’ thrombophlebitis of the chest wall may cause chest pain.¹⁸

Meconium aspiration syndrome

Meconium aspiration syndrome is a respiratory complication, resulting from the passage and aspiration of meconium before or during delivery.

Meigs’ syndrome

Joseph Meigs in 1917 described a syndrome characterized by the presence of ascites and pleural effusion in patients with fibroma of the ovary.¹⁹ Subsequently, it has been reported that a similar syndrome can develop in a pelvic condition other than fibroma of the ovary.

Mendelson’s syndrome

Mendelson’s syndrome is a form of chemical pneumonia often due to the aspiration of gastric acid during anesthesia during childbirth.

Menke’s syndrome

Menke’s syndrome is a genetic disease with copper accumulation and emphysema.

Middle east respiratory syndrome (mers)

A viral respiratory illness was first reported in saudi arabia in 2012. It is caused by the mers-coronavirus which was transmitted to humans from infected camels. 

Middle lobe syndrome

Though bronchiectasis commonly affects the basal segments of the lower lobes, occasionally it may be confined to a specific lobe or segment. There can be involvement of the middle lobe without involving the ipsilateral lower lobes. The condition results from complete or partial obstruction.²⁰

Mounier-Kuhn syndrome

Mounier-Kuhn syndrome is a congenital abnormality, characterized by atrophy or absence of elastic fibers and thinning of the smooth muscle in the trachea and bronchi. The flaccid airways exhibit marked dilation on inspiration and collapse on expiration.

Obesity-hypoventilation syndrome

A condition characterized by obesity, somnolence, hypoventilation, and erythrocytosis.

Open-negative syndrome

Following antituberculosis chemotherapy, especially isoniazid, thin-walled cavities may be left behind in the lungs. There is epithelization of the inner lining of the cavity that prevents its collapse and fibrosis. They are inactive and radiologically present as ‘ring shadows’ with thin walls.

Organic dust toxic syndrome

Organic dust toxic syndrome (odts) is a febrile illness developing after exposure to organic dust in individuals who do not have evidence of extrinsic allergic alveolitis.²¹ The condition presents with fever and influenza-like symptoms developing 4 to 8 hours after dust exposure. There may be wheezing. Though the disorder shares some features with extrinsic allergic alveolitis, it does not leave behind any permanent impairment of lung functions.

Pancoast’s syndrome

Pancoast’s syndrome is the result of bronchogenic carcinoma usually squamous cell of the superior pulmonary sulcus in its terminal bronchioles of the lung, with an invasion of adjacent ribs and vertebrae-the C8, T1, and T2 nerve roots, the sympathetic chain, and the stellate ganglion.²² There is deep-seated pain that begins in the shoulder and scapular regions and then extends to the arm and forearm. There is weakness and paraesthesia in the arm, wasting of muscles of the hand, and unilateral clubbing.

Paraneoplastic syndromes

The non-metastatic manifestations of bronchogenic carcinoma are of many varieties and the symptoms may appear earlier than that of primary growth in some cases. The abnormalities may be metabolic, vascular, haematologic, neuromuscular, connective tissue, and bony abnormalities.

Pickwickian syndrome

Nocturnal airway obstruction forms the basic defect in the pathogenesis of obstructive sleep apnoea (osa). The fat boy, Joe described by Charles Dickens in his ‘the posthumous papers of the pickwick club’ exhibited all the features of osa, such as obesity, plethoric appearance, hypersomnolence, snoring, and edema. The condition has been referred to as Pickwickian syndrome.²³ (See obesity-hypoventilation syndrome)

Pie’s syndrome

Pie’s syndrome is a condition of pulmonary infiltration with eosinophilia.

Poland’s syndrome

Poland’s syndrome is a congenital anomaly consisting of hypoplasia or aplasia of the pectoralis major muscle and ipsilateral syndactyly.²⁴ Rarely the condition may be bilateral. The anomaly may be associated with an absence of pectoralis minor muscle, absence or atrophy of ipsilateral ribs especially second, third, fourth, and fifth, aplasia of the ipsilateral breast, nipple, or dextrocardia.

Postnasal drip syndrome

Respiratory manifestations such as cough, dyspnoea, and wheezing may occur due to post-nasal drip due to rhino sinus condition. The condition exists when patients experience a sensation of something ‘ dripping down’ into their throat. Often the patients find a need to clear their throat. Examination of the oropharynx reveals mucoid or mucopurulent secretion or a cobblestone appearance of the mucosa.

Pulmonary acid aspiration syndrome

The condition occurs as a complication of anesthesia. There is the inhalation of gastric contents with a ph of less than 2.5. The manifestations include bronchoconstriction and destruction of tracheal mucosa. The condition progresses to a syndrome resembling ards.

Pulmonary infection with eosinophilia syndrome

Pulmonary infection with eosinophilia syndrome is characterized by pulmonary infection and eosinophilia.

Pulmonary sling syndrome

A condition characterized by unilateral aeration disturbance in the lung caused by pulmonary artery sling with tracheal stenosis.

Quasimodo syndrome

Quasimodo syndrome refers to sleep apnoea in association with kyphoscoliosis.

Reactive airways dysfunction syndrome

Exposure to a high concentration of irritant gases or fumes at home or the workplace brings about adverse reactions in the respiratory tract. Bronchial reactivity may persist in some individuals and present features indistinguishable from bronchial asthma. The condition has been termed as reactive airways dysfunction syndrome (rads).²⁵

Rett’s syndrome

Hyperventilation may occur due to a brain disorder. It is noted in young females in infancy and those progressing through the first two decades of life. It is characterized by autistic behaviour, abnormal hand movements, epilepsy, dementia, neurogenic scoliosis, and episodes of hyperventilation and apnoea. This condition is referred to as Rett’s syndrome.²⁶ It appears to be due to a deficiency of dopaminergic neurotransmitters. The higher cortical brain damage leads to a disordered control of breathing.

Rib tip syndrome

Rib tip syndrome refers to sharp severe pain related to undue mobility of the anterior ends of the lower ribs (clicking rib).²⁷ (See slipping rib syndrome)

Richter’s syndrome

There is frequent involvement of the lungs in chronic lymphocytic leukaemia. Richter’s syndrome is a rare manifestation wherein the lung can become the site of transformation of chronic lymphocytic leukaemia into high-grade lymphoma.²⁸

Riley-Day syndrome

Children having familial dysautonomia exhibit relative unresponsiveness to hypoxia and hypercapnia. Often they present with breath-holding attacks.

Sapho syndrome

Sapho is an acronym for synovitis, acne, pustulosis, hyperostosis, and osteitis. It is a very unusual disorder wherein the bony lesions affect the anterior chest wall frequently the clavicle.²⁹ The condition presents with pain.

Schaumann’s syndrome

Sarcoidosis was described by Jorgen Schaumann, a Swedish dermatologist.

Scimitar syndrome

Scimitar syndrome is a rare complex spectrum of congenital malformation of structures of the right lung and the right pulmonary artery, a systemic arterial supply from the abdominal aorta to the right lung base, and partial anomalous pulmonary venous return from the right lung to the inferior vena cava. It is considered a variant of the sequestration spectrum. The condition is also called hypogenetic lung syndrome, pulmonary venolobar syndrome, ormirror image lung syndrome.

Severe acute respiratory syndrome

A mysterious form of highly contagious pneumonia was reported in Guangdong province of the people’s Republic of China in late 2002 and subsequently spread to parts of South-east Asia, European countries, Canada, and the United States. This illness is called severe acute respiratory syndrome (sars). It causes flu-like symptoms initially, followed by respiratory problems, often leading to higher mortality.

The condition is due to a coronavirus, referred to as sarsassociated coronavirus. The infection causes diffuse alveolar damage. The changes include hyaline membrane formation, interstitial mononuclear inflammatory infiltrates, and desquamation of pneumocytes in alveolar spaces.³⁰ These changes appear to be a nonspecific response to acute lung injury.

Short neck syndrome

Short neck syndrome patients present with a short neck, decreased neck mobility, and low occipital hairline, which may be associated with a shortened trachea. Such an abnormality occurs due to the absence of several cartilaginous rings. The trachea remains patent.³¹

Shrinking lung syndrome

Patients suffering from systemic lupus erythematosus may exhibit an apparent shrinking of the lungs. In patients with diaphragm weakness, the serial chest radiographic study reveals progressive loss of lung volume without any other abnormalities of the parenchyma of the lungs and progressive elevation of the diaphragm.³²

Shwachman’s syndrome

Shwachman’s syndrome is a type of immune deficiency syndrome noted in childhood with severe episodes of recurrent infections and pancreatic insufficiency.³³ Often the condition mimics cystic fibrosis.

Sick building syndrome

Persons working in modern offices often complain of symptoms such as headache, nasal stuffiness, and general malaise. Such manifestations are referred to as sick building syndrome.³⁴ The manifestations may be related to the design of a building without natural ventilation and a greater amount of recirculation of air.

Sleep apnoea/ hypopnoea syndrome

Sleep apnoea/hypopnoea syndrome refers to disturbed sleep and respiration. It is associated with repetitive episodes of apnoea which permeate sleep and its structure. There is an absence of airflow in the nose and mouth for at least 10 seconds during sleep. In hypopnoea, there are periods of a significant decrease of airflow for at least 10 seconds but not an absence of it.

Slipping rib syndrome

Slipping rib syndrome is also referred to as rib tip or clicking rib. The patients exhibit intercostal radicular pain. Pain may be episodic or continuous, mild or severe. Pain may get aggravated by movement. Pain is due to irritation of the intercostal nerve anteriorly by an adjacent rib or costal cartilage. Often it involves the eighth, ninth, and tenth rib. The involvement is more frequent on the right than the left. The movement of the affected rib produces a clicking or grating sound. The affected rib is unduly mobile and slips under the superior adjacent rib.

Spanish toxic oil syndrome

There was an occurrence of a previously unrecognized pneumonia-paralytic-eosinophilic syndrome in 1981 in the form of an epidemic in Spain. The condition was due to rapeseed oil that was denatured by the addition of 2% aniline and marketed as cooking oil. The condition was referred to as spanish toxic oil syndrome.³⁵Patients presented with pulmonary edema with degenerative changes in both types i and ii pneumocytes.

Superior vena cava obstruction syndrome

A condition caused by obstruction of the superior vena cava by either external compression or intraluminal thrombus or neoplastic infiltration, or a combination of all three processes. Most commonly it occurs in association with bronchogenic carcinoma, lymphoma, or metastatic mediastinal glands. Small cell carcinoma is the most frequent lung carcinoma. The patient complains of severe dyspnoea and fullness of the head. There is suffusion and brawny edema of the face, neck, and upper limbs. Often it is associated with prominent, dilated chest wall veins. There is a widening of the mediastinum on the right side.

Swyer-James syndrome

Swyer-James syndrome is a rare abnormality characterized radiologically by a hyperlucent lobe or lung and functionally by normal or decreased volume during inspiration and air-trapping during expiration.³⁶ The condition is also referred to as macleod’s syndrome, unilateral hyperlucent lung, and unilateral or lobar emphysema.

Syndrome Z

Syndrome Z refers to syndrome X in association with obstructive sleep apnoea and the condition increases cardiac risks by many folds.

Tietze syndrome

Tietze’ syndrome refers to a particular type of chest wall pain arising from the costochondral cartilaginous junction. It is named after alexander tietze, a german surgeon. The condition is generally noted in adults, and the patient experiences dull gnawing aches.

Trousseau’s syndrome

An acquired coagulation abnormality may develop as a neoplastic phenomenon in neoplasms of the lung. There is recurrent arterial and venous thrombosis.³⁷ The condition ends fatally if it is not treated with heparin anticoagulation. The condition is named Trousseau’s syndrome, after Armand Trousseau, a French physician. A similar condition may develop in the neoplasm of the pancreas, gastrointestinal tract, and genitourinary tract.

Upper airway resistance syndrome

Upper airway resistance syndrome (uars) is a variant of obstructive sleep apnoea (osa) that is characterized by a partial collapse of the airways that results in increased resistance to airflow³⁸. An increased respiratory effort is required to overcome the resistance and it results in multiple sleep fragmentations. The condition may not result in apnoeic or hypopnoeic events and snoring.

Williams-Campbell syndrome

Williams-Campbell syndrome is a congenital form of bronchiectasis probably due to a deficiency in the amount of airway cartilage in the tracheobronchial tree, especially in the region distal to segmental bronchi.³⁹

Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome is an X-linked recessive condition characterized by thrombocytopenia, purpura, eczema, immune deficiency, and recurrent infections. The condition is associated with an abnormal cell- mediated immunity. The levels of iga and ige are raised and the level of igm is low. The patients die from severe hemorrhage, lymphoreticular malignancy, or infection, especially fulminant pneumonia.

Yellow nail syndrome

Yellow nail syndrome is a triad characterized by yellow nails, lymphoedema, and pleural effusion.⁴⁰ The individual may exhibit two or three characteristics of the syndrome. There is an increased tendency to develop bronchiectasis and sinusitis.

Young’s syndrome

Young’s syndrome is a genetic disorder characterized by infertility, sinusitis, and bronchiectasis. Infertility is due to mechanical obstruction of the genital tract resulting in azoospermia.⁴¹

Zuelzer-Wilson syndrome

Zuelzer-Wilson syndrome is a rare congenital abnormality of gut immobility due to total colonic aganglionosis. It is related to hirschsprung’s disease. The patient may exhibit pulmonary alveolar hypoventilation.⁴²

Conflicts of interest

Nil