Kartagener's syndrome in 9 year old- A Case Report

Saurabh Kansal2, Gopal Chawla1, A.P. Kansal1, Amitesh Gupta1 1. Chest and Tuberculosis, Govt. Medical College, Patiala, Punjab, India. 2. ENT, Dayanand Medical College, Ludhiana, Punjab, India.

Abstract : Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis usually caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. We present a case of a 9-yearold boy with chronic recurrent upper respiratory infections. He was diagnosed with Kartagener syndrome based on his clinical presentation and radioimaging Keywords: bronchiectasis, immotile cilia syndrome, situs inversus

Introduction : Kartagener Syndromes (KS) is an autosomal recessive disorder1 characterized by dextrocardia, bronchiectasis and sinusitis2. The condition was described for the first time by Siewert in 19043, therefore some people call it Siewert syndrome but the details of the condition were given by Manes Kartagener in 1933 and it is commonly known as Kartageners syndrome2. Basic problem is defective movement of the cilia leading to group of symptoms.
CASE PRESENTATION: A 9 year old male child admitted in our hospital, presenting with recurrent nasal blockade, cough with expectoration and intermittent fever since early infancy. His

previous records showed a lot of investigations for tuberculosis and examinations of the sputum. On examination he was febrile with wheezy chest and bilateral coarse crackles. Initial suspicion was that of bronchial asthma with recurrent chest infections or pneumonia but the possibility of other causes were also kept in mind. His heart sounds were heard best on the right side of the chest. On further work up, basic investigations were under normal limits and in ECG and radiological imaging following were observed, Chest X Ray showed dextrocardia with gastric bubble on right side (Fig1) and liver dullness on left side.ECG showed tall R waves in lead V1 and absent R waves in V4,V5 and V6 (Fig2), Chest Tomography showed Total Situs Inversus with Liver on left side and spleen and stomach on right side. Lung parenchyma showed bronchiectatic changes mainly in posterior basal segments of left lower lobes while CT PNS showed B/L maxillary Sinusitis, mucosal thickening in both maxillary sinuses with opacified frontal sinusitis while ECHO showed trivial MR withTR

Chest radiograph showing dextrocardia (yellow arrow) with gastric bubble under right diaphragm(green arrow)

Electrocardiogram showing dextrocardia with tall R waves in lead V1 and absent R in V4 V5 V6.

CT of sinuses showed mucosal thickening in maxillary sinuses and aplastic frontal sinuses

Major part of liver and gall bladder lie on left to midlinein upper abdomen, multiple enhancing round to ovoid structures suggestive of multiple spleen are seen adjacent stomach on right side .
Figure 6

Bronchiectasis is seen manly in posterior basal segments of lower lobes on right side and mid and lower regions of the lung parenchyma on left side.

The diagnosis of Kartageners syndrome in this case was clinical, supported by imaging studies. The condition should be kept in mind in a patient presenting with; 1. Recurrent sinusitis and bronchiectasis. 2. Asthma like symptoms and signs responding poorly to conventional treatment. 3. Recurrent lower respiratory tract infections causing fever, sweating and weight loss, tempting the physician to give a trial of antituberculous drugs
.

Early recognition of the disease and prompt antibiotic treatment are the keys to minimize the irreversible lung damage. Physiotherapy with postural drainage and cessation of smoking are also important. Coughing should not be suppressed since it acts as a substitute for mucociliary clearance. Huffing from mid to low lung volume with forced expiratory manoeuvre helps to improve clearance13 Despite this being a chronic respiratory disease, life span seems to be normal.

By early diagnosis of this rare entity, patient and his family is saved from unnecessary investigations and inappropriate treatment and later in life when child will attain puberty it is advisable to go under semen analysis that may affect his marital life considering social impact of this entity

Review of Literature

1. Kartagener M.. Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus. Beitr Klin Tuberk 1933; 83:489-501. 2. Gorham GW, Merselis JG Jr. Kartageners triad: a family study. Bull Johns Hopkins Hosp; 1959;104: 11-16. 3. Siewert AK. Ueber einen Fall von Bronchiektasie bei einem Patienten mit Situs inversus viscerum. Berl Klin Wochenschr 1904;41:13941.