KARTAGENER SYNDROME

Introduction

In 1933 Kartagener described a group of children and adults with situs inversus, chronic sinusitis and airways disease leading to bronchiectasis. This triad of findings with a familial occurrence as well as a disorder with similar respiratory tract findings and infertility, but no situs inversus, is the result of absent or disorganised ciliary or sperm tail motility - primary ciliary dyskinesia. We report a rare case of Kartagener syndrome.

Case Report

A 9 year old male child reported with complaints of recurrent cough and low grade intermittent fever of three years duration. Cough was with yellowish grey expectoration more in the mornings on waking up. Fever was essentially low to moderate grade, off and on and responded to symptomatic therapy. Patient also gave a positive history of poor weight gain and a weight loss of 2 kg over the last one year with a constantly running nose and frontal headache. Breathlessness was progressively increasing and was presently evident on routine play activity. There was history of respiratory distress at birth in the form of tachypnoea, requiring the patient to be nil orally and on IV fluids for a period of seven days.

Examination revealed a frail looking boy weighing 22Kg (5^th centile) with a standing height of 121 ems (5^thcemile). The patient was having pallor and grade II clubbing. Heart sounds were best audible on the right side with the apex beat in the 5^th intercostal space on the right side of chest. The trachea was centrally placed, movements of the chest were equal bilaterally. Auscultation revealed bilateral coarse crepitations audible over the lung bases. The frontal and maxillary sinuses were mildly tender and the nasal mucosa inflamed. However, the examination of the ears was within normal limits. Abdominal examination showed the liver to be palpable I cm below the left costal margin, nontender with a smooth rounded edge.

Investigations revealed a Hb of 7 gm%, leucocyte count of 11,200/cu mm. Chest X-ray showed dextrocardia, gastric air bubble on the right side and bronchiectatic changes in the form of honeycomb lesions over both lower zones of lungs (Fig-1). ECG was suggestive of dextrocardia with situs inversus, P wave inversion in lead 1 and aVL with falling QRS amplitude from VI-V6 (Fig-2) and this was confirmed on echocardiography which also did not reveal any other cardiac abnormality. USS of the abdomen confirmed the liver to be on the left side and a solitary spleen on the right side. X-ray film of the paranasal sinuses was hazy suggestive of maxillary and frontal sinusitis (Fig-3). Nasal scrapings were not taken as the mucosa was inflamed and hence would not have provided a satisfactory sample tissue. Tuberculosis was excluded in this patient based upon chest X-ray and Mantoux test. Bronchoscopy and pulmonary function tests could not be carried out because of their non availability.

Fig. 1.

Chest X-ray depicts right sided cardiac apex substantiated by the gastric bubble on the right side. Added features are the bronchiectatic changes over the RMZ, RLZ and LMZ

Fig. 2.

12 lead ECG. Lead 1 shows T wave inversion and falling amplitude of QRS complex from V1 to V6

Fig. 3.

X-ray PNS shows hazy maxillary sinuses confirming clinical evidence of sinusitis

The patient was initiated on broad spectrum antibiotics, chest physiotherapy and a balanced diet and responded to the above measures and is on regular follow up.

Disussion

Kartagener syndrome - situs inversus, bronchiectasis and sinusitis forms almost 50% of cases of primary ciliary dyskinesia (PCD). The reported incidence of Kartagener syndrome is 1:32000 and of PCD 1:16000 [2]. In the mammalian respiratory tract there may be 200 cilia/cell with a density of 8 cilia per square micron at the apex of the cell.

The functional abnormality results from the absence of the arms on the nine peripheral microtubule doublets of the axonemes [3]. The inheritance pattern appears to be autosomal recessive. Individuals with PCD may have respiratory distress during neonatal period [4]. This history was available in our case. The hallmark of PCD is a chronic often loose cough - mucoid to purulent and associated with chronic sinustitus and middle ear disease. If such a patient has situs inversus it is diagnostic of PCD. However, this configuration of Kartagener syndrome occurs in only 50% of cases of PCD such as the case being reported. Lower respiratory tract symptoms can progress to weight loss and reduced exercise tolerance, however, respiratory failure is an uncommon feature [1].

An international consensus on the diagnostic criteria of PCD has not been reached. However, Kartagener syndrome is one of the additional diagnostic criteria for PCD [5]. Management of such cases is essentially symptomatic and consists of regular physiotherapy of chest, antibiotics after culture and sensitivity testing of the pathogenic organisms, bronchodilators for wheeze and early management of sinusitis and otitis media. Vaccination for measles, pertussis, influenza and pneumococcal infections is provided. This disease can be temporarily benign when treated with antibiotics and physiotherapy. Associated cardiac anomalies if present can be safely treated by surgical intervention which produces good results [6].