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KARTAGENER'S SYNDROME - REVISITED
KARTAGENER’S SYNDROME - REVISITED (A Case Report)
Maj RAJESH CHAUHAN*, Dr VIVEK KAPOOR+, Maj lIP SINGH#, Lt Col ONKAR SINGH** MJAFI 1995j 51 : 58•59
KEY WORDS: Kartagener’s syndrome; Situs inversus; Otitis media.
Introduction artagener’s syndrome belongs to the ’dyskinetic cilia syndrome’ group and is a syndromal association of bron› chiectasis, sinusitis and dextrocardia [1,2]. The dextrocardia in over half the cases is associated with situs inversus, and only about 12 to 25% cases exhibit the complete triad. The other reported associations are oti› tis media with mild conductive deafness [2], infertility in males due to immotile sperma› tozoa, and in females due to tube dysfunction. Theses patients keep frequenting the medi› cal installations in search of the ever evading cure. Our patient, of comparatively younger age, was kept under surveillance for a period of three years for monitoring the progress of the disease after the diagnosis. The same is presented herewith, owing to the rarity of the condition as also the documentation of this syndrome in its pure form association of situs inversus, pan sinusitis with hypoplastic fron› tal sinuses, bronchiectasis and otitis media.
K
Case Report A 29-year-old female reported for recurrent cough which worsened during the monsoons. An ace atheleto in her younger days, she remembers having suffered from bouts of cold which used to clear away in at most a week’s time. However after her last confinement (the third preg› nancy) she realised that it was taking increasingly more time for the cough to subside. General examination was unremarkable with no evi› dence of clubbing. Examination of upper respiratory tract revealed a post nasal drip, pus discharge from the middle turbinates. and tenderness over the maxillary sinuses.
Transillumination of maxillary sinuses was positive for sinusitis. There was bilateral tympanic membrane perfo› ration but the ears were dry. Except for the apex beat location in the 5th intercostal space on the right. the cardiovascular examination was essentially normal. Auscultation oflungs revealed coarse crepitations at both bases. Investigations revealed a normal haemogram. Saccha› rin test result was delayed beyond the stipulated 30 minutes. Radiograph examination of the chest confirmed dextrocardia, a right sided aortic arch and exihibited early features of bronchiectasis in both lower zones (Fig 1). The fundic air bubble was seen on the right. Echo› cardiography further confirmed the complete dextro› cardia. and excluded any other cardiac abnormality. Ultrasonsography revealed visceral transposition, as also the location ofinferior vena cava to the left of the abdomi› nal aorta. A plain film of para nasal sinuses (Water’s view) showed evidence of pan sinusitis and bilateral hypoplastic frontal sinuses. Roentgenograms obtained for the mastoids (Schuller’s viow) exhibited bilateral sclerosing mastoiditis. She was treated with a course of antibiotics and decongestants supplemented by an antral puncture with aspiration of the maxillary sinuses, with gratifying re› sults. She was informed of the benefits of breathing exercises and postural drainage. The patient was coun› selled against future pregnancy. which went unheeded. The confinement remained uneventful though. and an early ambulation was sought. She continues with her daily chores now and comes for regular follow up every month.
Discussion After the original descri ption of the disease in 1903 by Siewert, the syndrome was reclas› sified and named after Kartagener, who in 1933 described 11 cases. With a reported in› cidence of 1 : 40000, this syndrome is inher› ited as an autosomal recessive trait [1].
*RMO,EME School; +Senior Resident, Dept of Radiology, SSGH, Baroda; #Medical Specialist. Air Force Hospital. Kanpur; **Officer Commanding, Military Hospital, Baroda.
MJAFI, 51 : 1, JANUARY 1995
Fig. 1: X-ray chest PA view showing dextrocardia. early bronchiectain in both lower joints and fundic bubble on the right.
The basic pathology is the absence of one or both rows of dynein arms in some cilia and the absence of spoke heads or central sheaths in others. The cilia work in concerted fashion to propel the mucus blanket in a cephalic direction. Coordinated sliding and bending action cannot OCGur in the absence of dynein arms or radial spokes. Such abnormalities prevent normal transport of mucus from the bronchial tree to the mouth and result in a serious impairment of the lung’s normal, de› fence system [2].
Kartagener’sSyndrome 59
The clinical features are a result of defec› tive mucociliary clearance from the respira› tory tracts, the para-nasal sinuses and the middle ear [1-4]. Repeated insults by viruses, bacteria and other microorganisms over a pe› riod of time, with delayed clearance of the mucopurulent material leads to increasing damage of respiratory epithelium, thereby re› sulting in bronchiectasis. With the increasing awareness of the infir› mity that the Kartagener’ssyndrome leads to, it becomes all the more necessary to diagnose the condition early. This mitigates the long term complications. Our patient was diag› nosed at a relatively early stage-and hence the absence of widespread bronchiectasis and clubbing, and remained in a good condition even during the confinement, managed promptly for the respiratory illnesses. Patients with Kartagener’s syndrome do not seem to be overtly susceptible to infec› tions and do not require any chemoprophy› laxis. A full blown picture of this syndrome is not always evident in all close relatives [5], and therefore the antenatal diagnosis and counselling does not seem pertinent. REFERENCES 1. VanPraagh R,Weinberg PM. et al, Malpositions of the heart. In Adams FH, Emmanouilides GC, Rie› menschneider TA. editors. Moss’ Heart Disease in Infants, Children and Adolescents. 4th ed. Baltimore : William & Wilkins. 1989: 546-64. 2. Seaton A. et al. Bronchiectasis. In : Croften and Douglas’ Respiratory Disease. 4th edition. 1989 : 601-3. 3. Child AH. Kartagener’s Syndrome. Clin Genet 1980; 17: 61. 4. Fischer TJ ot al, Middle ear ciliary defect in Kartagener’s Syndrome. Paediatrics 1978; 62 : 443. 5. Goldman AS. The discovery of defects in respiratory cilia syndrome. J Paediatrics 1980: 96 : 244.
Maj RAJESH CHAUHAN*, Dr VIVEK KAPOOR+, Maj lIP SINGH#, Lt Col ONKAR SINGH** MJAFI 1995j 51 : 58•59
KEY WORDS: Kartagener’s syndrome; Situs inversus; Otitis media.
Introduction artagener’s syndrome belongs to the ’dyskinetic cilia syndrome’ group and is a syndromal association of bron› chiectasis, sinusitis and dextrocardia [1,2]. The dextrocardia in over half the cases is associated with situs inversus, and only about 12 to 25% cases exhibit the complete triad. The other reported associations are oti› tis media with mild conductive deafness [2], infertility in males due to immotile sperma› tozoa, and in females due to tube dysfunction. Theses patients keep frequenting the medi› cal installations in search of the ever evading cure. Our patient, of comparatively younger age, was kept under surveillance for a period of three years for monitoring the progress of the disease after the diagnosis. The same is presented herewith, owing to the rarity of the condition as also the documentation of this syndrome in its pure form association of situs inversus, pan sinusitis with hypoplastic fron› tal sinuses, bronchiectasis and otitis media.
K
Case Report A 29-year-old female reported for recurrent cough which worsened during the monsoons. An ace atheleto in her younger days, she remembers having suffered from bouts of cold which used to clear away in at most a week’s time. However after her last confinement (the third preg› nancy) she realised that it was taking increasingly more time for the cough to subside. General examination was unremarkable with no evi› dence of clubbing. Examination of upper respiratory tract revealed a post nasal drip, pus discharge from the middle turbinates. and tenderness over the maxillary sinuses.
Transillumination of maxillary sinuses was positive for sinusitis. There was bilateral tympanic membrane perfo› ration but the ears were dry. Except for the apex beat location in the 5th intercostal space on the right. the cardiovascular examination was essentially normal. Auscultation oflungs revealed coarse crepitations at both bases. Investigations revealed a normal haemogram. Saccha› rin test result was delayed beyond the stipulated 30 minutes. Radiograph examination of the chest confirmed dextrocardia, a right sided aortic arch and exihibited early features of bronchiectasis in both lower zones (Fig 1). The fundic air bubble was seen on the right. Echo› cardiography further confirmed the complete dextro› cardia. and excluded any other cardiac abnormality. Ultrasonsography revealed visceral transposition, as also the location ofinferior vena cava to the left of the abdomi› nal aorta. A plain film of para nasal sinuses (Water’s view) showed evidence of pan sinusitis and bilateral hypoplastic frontal sinuses. Roentgenograms obtained for the mastoids (Schuller’s viow) exhibited bilateral sclerosing mastoiditis. She was treated with a course of antibiotics and decongestants supplemented by an antral puncture with aspiration of the maxillary sinuses, with gratifying re› sults. She was informed of the benefits of breathing exercises and postural drainage. The patient was coun› selled against future pregnancy. which went unheeded. The confinement remained uneventful though. and an early ambulation was sought. She continues with her daily chores now and comes for regular follow up every month.
Discussion After the original descri ption of the disease in 1903 by Siewert, the syndrome was reclas› sified and named after Kartagener, who in 1933 described 11 cases. With a reported in› cidence of 1 : 40000, this syndrome is inher› ited as an autosomal recessive trait [1].
*RMO,EME School; +Senior Resident, Dept of Radiology, SSGH, Baroda; #Medical Specialist. Air Force Hospital. Kanpur; **Officer Commanding, Military Hospital, Baroda.
MJAFI, 51 : 1, JANUARY 1995
Fig. 1: X-ray chest PA view showing dextrocardia. early bronchiectain in both lower joints and fundic bubble on the right.
The basic pathology is the absence of one or both rows of dynein arms in some cilia and the absence of spoke heads or central sheaths in others. The cilia work in concerted fashion to propel the mucus blanket in a cephalic direction. Coordinated sliding and bending action cannot OCGur in the absence of dynein arms or radial spokes. Such abnormalities prevent normal transport of mucus from the bronchial tree to the mouth and result in a serious impairment of the lung’s normal, de› fence system [2].
Kartagener’sSyndrome 59
The clinical features are a result of defec› tive mucociliary clearance from the respira› tory tracts, the para-nasal sinuses and the middle ear [1-4]. Repeated insults by viruses, bacteria and other microorganisms over a pe› riod of time, with delayed clearance of the mucopurulent material leads to increasing damage of respiratory epithelium, thereby re› sulting in bronchiectasis. With the increasing awareness of the infir› mity that the Kartagener’ssyndrome leads to, it becomes all the more necessary to diagnose the condition early. This mitigates the long term complications. Our patient was diag› nosed at a relatively early stage-and hence the absence of widespread bronchiectasis and clubbing, and remained in a good condition even during the confinement, managed promptly for the respiratory illnesses. Patients with Kartagener’s syndrome do not seem to be overtly susceptible to infec› tions and do not require any chemoprophy› laxis. A full blown picture of this syndrome is not always evident in all close relatives [5], and therefore the antenatal diagnosis and counselling does not seem pertinent. REFERENCES 1. VanPraagh R,Weinberg PM. et al, Malpositions of the heart. In Adams FH, Emmanouilides GC, Rie› menschneider TA. editors. Moss’ Heart Disease in Infants, Children and Adolescents. 4th ed. Baltimore : William & Wilkins. 1989: 546-64. 2. Seaton A. et al. Bronchiectasis. In : Croften and Douglas’ Respiratory Disease. 4th edition. 1989 : 601-3. 3. Child AH. Kartagener’s Syndrome. Clin Genet 1980; 17: 61. 4. Fischer TJ ot al, Middle ear ciliary defect in Kartagener’s Syndrome. Paediatrics 1978; 62 : 443. 5. Goldman AS. The discovery of defects in respiratory cilia syndrome. J Paediatrics 1980: 96 : 244.