Vol. 47, No. 1, 2008

 

Kartagener Syndrome

 

Shafiq Anwer, Waqas Ahmad, Liaqat Ali Dogar

 

ABSTRACT

 

A 23 years male presented with history of breathlessness and nasal congestion. On investigations based on clinical, radiological and laboratory findings a diagnosis of Kartagener Syndrome was made which has situs inversus, primary ciliary dyskinesia, bronchiectasis, chronic sinusitis and azospermia. He was married since few years before but had no issue.

 

INTRODUCTION

 

Kartagener Syndrome is due to axonemal dynein intermediate gene DN11 mutation, gene to a 3.5 cM on chromosome 15q 24-25.¹  Kartagener Syndrome is characterized by situs inversus accompanying the typical primary ciliary dyskinesia, symptoms of bronchiectasis and chronic sinusitis. Since this syndrome is associated with bronchiectasis and situs inversus which may often be an indication for lung transplantation.² Primary ciliary dyskinesia is characterized by chronic upper and lower respiratory tract infections which are caused by the grossly impaired ciliary transport. Since the cilia and neutrophils both utilize microtubular system for their movement, it has been speculated that neutrophil motility such as chemotaxis might be impaired in patients with primary ciliary dyskinesia.³ Neutrophils from patients with primary ciliary dyskinesia show a decreased chemotactic response as compared with those from normal subjects suggesting that increased frequency of respiratory tract infection in patient with PCD is possibly due to the defective directional migration of neutrophils as well as to the defective mucociliary clearance of the airways.

 

CASE REPORT

 

A 23 years old male presented with weak health and anaemia, dyspnoea, clubbing but no cyanosis. On examination the pulse was 80/min regular, BP 110/80 mm Hg, respiratory rate 20/min. There was no history of haemoptysis but patient had fever off and on along with  tiredness. He also gave history of childhood pneumonia requiring frequent admissions in the past with cough, sputum, dyspnoea which did not improve with treatment. The sputum sometimes was yellowish and offensive and there was history of nasal discharge and headache off and on. Patient also gave history of bronchial asthma for which he was taking antiasthmatic treatment. There was also family history of bronchial asthma. On examination the nose was congested with secretions seen in the nasal cavities. Chest was bilaterally symmetrical and apex beat was placed on right side with no heave, thrill or murmur. Bilaterally scattered rhonchi were heard in the chest with  basal crepitations. Abdomen was soft, non tender and no viscera were palpable, bowl sounds were audible.

Laboratory reports showed white blood cell count of  5.9x10³/L, with a neutrophil count of 53.9%, lymphocytes 39.4% and mixed cells 6.7%. The platelet count was 226x10³/l and ESR 20 mm in first hour. Hemoglobin was 12.9g/dL, fasting blood sugar was 95mg/dL, blood urea was 37mg/dL and creatinine 0.9mg/dL. Liver function tests showed total bilirubin of 1mg/dL, ALT 24 U/L, AST  30U/L, alkaline phosphatase 160U/L and LDH 573U/L.

X-ray chest showed dextrocardia (Figure 1). X-ray paranasal sinuses showed opaque frontal nasal sinuses (Figure 2) and CT scan showed dextrocardia and bronchiectasis changes (Figure 3)

Abdominal ultrasound showed a situs inversus and dextrocardia with mirror image anatomy seen with liver on the left and spleen on the right side. The liver had  normal ecotexture. The gall bladder was thin walled and had a normal interior with no evidence of biliary obstruction. The spleen, pancreatic head and body and the mid line abdominal vessels were normal. The urinary bladder was thin walled and had a normal interior. A diagnosis of situs inversus totalis was made.⁴

Semen analysis was also done and total sperm count was 0.5 million/ml; 10% being active motile and 90% non motile 90% thus  causing infertility.

 

DISCUSSION

 

Situs inversus along with primary ciliary dyskinesia is called Kartagener Syndrome and this is due to axonemal dynein intermediate gene DN11 mutation, gene to a 3.5 cM on chromosome 15q 24-25. Primary ciliary dyskinesia (PCD) is a genetic disorder caused by ciliary immotility due to ultra structural defects of the cilia. Kartagener Syndrome is a subtype of PCD which is characterized by situs inversus accompanied with typical PCD symptoms of bronchiectasis and chronic sinusitis. In most cases PCD is transmitted as an autosomal recessive trait. A study conducted on 10 patients in Virginia university⁴ showed that all patients with situs inversus had mirror image location of the abdominal viscera, 9 had dextrocardia and 1 had levocardia. All had abdominal heterotaxy including midline liver and gall bladder, right sided spleen and stomach and rotational abnormalities of the small bowl and colon. Recognition of the spectrum of situs anomalies is important because the altered anatomy associated with these anomalies may result in confusing imaging findings. The patient described as a case of Kartagener Syndrome had situs inversus, dextrocardi,⁵ sinusitis, bronchiectasis and bronchial asthma. This man had been regularly attending the chest clinic and had repeated admissions in the chest hospitals with severe dyspnoea, cough, sputum and fever. Patient was temporarily relieved many times but never recovered. Clinically basal crepitations and rhonchi correlated with signs of bronchiectasis.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Figure 1: Dextrocardia                                                                      Figure.2: Sinusitis

 

 

Figure.3: CT scan showing bronchiectatic changes