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Year : 2022  |  Volume : 6  |  Issue : 3  |  Page : 288-290

A rare case of kartagener's syndrome with schizophrenia

1 Department of Psychiatry, TNMC and BYL Nair Charitable Hospital, Mumbai, Maharashtra, India
2 Department of Psychiatry, GS Medical College and KEM Hospital, Mumbai, Maharashtra, India
3 Department of Psychiatry, LTMMC and GH, Mumbai, Maharashtra, India
4 Consultant Psychiatrist, Institute of Psychological Health, Thane, Maharashtra, India

Date of Submission28-Jan-2022
Date of Decision02-Feb-2022
Date of Acceptance06-Feb-2022
Date of Web Publication31-Oct-2022

Correspondence Address:
Dr. Nishant Das
502, Gagangarh, IIT Bombay Staff Cooperative Housing Society, Near S. M. Shetty School, Powai, Mumbai - 400 076, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aip.aip_18_22

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Kartagener's syndrome is a rare genetic disorder of primary ciliary dyskinesia characterized by the triad of bronchiectasis, sinusitis, and situs inversus. There is limited data on the role of Kartagener's syndrome leading to psychotic manifestations. We would like to discuss the case of a 26-year-old male, who presented to us with psychotic symptoms of 4-year duration. Upon detailed physical examination and pertinent investigations, he was diagnosed to be having Kartagener's syndrome. He was treated with antipsychotics and benzodiazepines. This case highlights the importance of a thorough physical examination and eliciting medical history, as it may lead to the finding of various syndromes that have been said to be associated with schizophrenia, thereby contributing to its genetic hypothesis. The neurological, biochemical, and structural malformations seen in Kartagener's syndrome may also lead to psychotic manifestations. They could be genetically linked to loci contributing to an increased risk of psychosis.

Keywords: Ciliary motility disorder, genes, Kartagener's syndrome, schizophrenia

How to cite this article:
Khar PB, Das N, Roy P, Bhatankar S. A rare case of kartagener's syndrome with schizophrenia. Ann Indian Psychiatry 2022;6:288-90

How to cite this URL:
Khar PB, Das N, Roy P, Bhatankar S. A rare case of kartagener's syndrome with schizophrenia. Ann Indian Psychiatry [serial online] 2022 [cited 2022 Dec 4];6:288-90. Available from: https://www.anip.co.in/text.asp?2022/6/3/288/360077

  Introduction Top

Kartagener's syndrome is a rare genetic disorder of primary ciliary dyskinesia (PCD), characterized by the triad of bronchiectasis, sinusitis, and situs inversus. The worldwide prevalence is between 1/10,000 and 1/50,000.[1] Only seven cases of Kartagener's syndrome with psychosis have been reported worldwide, of which none have been reported in India.[1],[2],[3] We here present an interesting case report of the same, which we found in our hospital.

  Case Report Top

Mr. XYZ, a 26-year-old unmarried male, was brought by relatives with complaints of abusive and aggressive behavior, irritability, disinhibited and wandering behavior, and decreased sleep of 4 years duration, which had increased in the past 15 days.

The patient was apparently alright 4 years back, when he gradually started remaining withdrawn and had minimal interactions with family members. He was also seen to be muttering to himself and gesticulating. His self-care was significantly impaired and he had to be insisted for the same. Gradually, he was seen to be wandering in the locality without appropriate clothing and stopped going to work. He also started becoming suspicious that people were discussing about him and had self-injurious behavior in the form of head banging and hitting himself. For the above symptoms, psychiatric consultation was sought, but follow-up and adherence to medication were erratic, details of which were not available.

Two years back, the above symptoms were exacerbated after his father's demise. He started becoming irritable over minor provocations. His sleep disturbances worsened and his self-care deteriorated. He started showing disorganized behavior, in the form of disrobing publicly and wandering in the locality in his inner-wear. He started suspecting his relatives of plotting to harm him and would claim that they were trying to poison his food, which is why he would often refuse to eat. He also threatened to kill them on a few occasions.

15 days before admission, his aggression increased and he turned assaultive toward his relatives. On the day of admission, the patient made an unprovoked physical assault on three of his cousin sisters due to which a police complaint was lodged against him, and hence, he was admitted for further evaluation and management.

On further evaluation, a past history of recurrent respiratory tract infections since childhood was elicited. During physical examination, the apex beat was palpated and heard in the right 5th intercostal space, and wheeze was heard bilaterally all over the chest.

On mental status examination, he was an ill-kempt disheveled young male, wearing torn and dirty clothes, oriented to time, place, and person, and having increased psychomotor activity. His speech was nonspontaneous with decreased rate and volume. He had a smiling, inappropriate affect. He reported to be having second-person auditory hallucinations of unknown women with derogatory content. His social judgment was impaired, and he lacked insight into his illness. On admission, his score on the Positive and Negative Syndrome Scale (PANSS) was 84. A provisional diagnosis of schizophrenia was made, and he was started on tablet olanzapine 10 mg in divided doses and tablet lorazepam 1 mg at night.

In view of the clinical findings pointing toward dextrocardia, opinions from general medicine and pulmonary medicine departments were taken. Ultrasonography of the abdomen and high-resolution computerized tomography of the thorax and abdomen were advised, which revealed situs inversus totalis and bronchiectasis. Two-dimensional echocardiography also revealed dextrocardia. A semen analysis was later advised, which was indicative of azoospermia. In view of the above findings, the patient was diagnosed with Kartagener's syndrome by the pulmonologist and general physician.

The diagnosis was, hence, revised to schizophrenia with Kartagener's syndrome. During his stay in the ward, tablet olanzapine was gradually increased to 20 mg in divided doses over a period of 15 days and tablet lorazepam was omitted after sleep had stabilized. Antibiotics and bronchodilators were prescribed by the pulmonologist in view of the bronchiectasis. There was a significant reduction in his psychotic symptoms over 20 days (PANSS score 40 on day 20), and he was discharged after psychosocial rehabilitation and prevocational training, given to him at the department's rehabilitation center.

Currently, the patient continues to follow-up on outpatient basis, is well maintained, and works as a salesman in a garment shop.

  Discussion Top

In situs inversus totalis, structural malformations and ciliary dyskinesia may lead to loss of the physiological cerebral asymmetry. The failure of normal brain ciliary function or failure of embryonic nodal ciliary function may lead to impairment of the circulation of cerebrospinal fluid or prevent development of the normal asymmetry of the brain, respectively.[1] There are also defects in multiple signaling pathways.[4] The proposed hypothesis is that the above changes in the ciliary function and genetic mutations which are responsible for causing Kartagener's syndrome could also lead to the emergence of psychosis.[1],[5] Neuroimaging studies of patients with schizophrenia and Kartagener's syndrome have shown that many have a loss of cerebral asymmetry.[1] A case of Kartagener's syndrome with schizophrenia reported by Quast et al.[1] had a positive family history of Kartagener's syndrome with psychosis in the maternal uncle as well, suggesting that either the biochemical lesion responsible for Kartagener's syndrome also facilitates the precipitation of psychosis or the genes likely responsible for the syndrome are possibly linked to loci contributing to an increased risk for psychosis. A genome-wide linkage analysis in 52 families with Kartagener's syndrome by Geremek et al.[6] reported a region on chromosome 15q24–25, between D15S973 and D15S1037, linked to Kartagener's syndrome, while identification of microdeletions of the proximal region of chromosome 15q encompassing CHRNA7, the gene encoding the α7-nicotinic acetylcholine receptor (α7nAChR) subunit, is associated with several neuropsychiatric disorders, including schizophrenia.[7] Similarly, mutant CCDC39 gene located at chromosome 3q26 is a major cause of PCD,[8] while deletion at 3q29 confers above 40-fold increase in the risk of schizophrenia.[9]

The young age of presentation of psychotic symptoms in our patient similar to that reported by Ermiş et al.[3] and Finkelstein.[10] A good therapeutic response to antipsychotics was seen in our patient, similar to that reported in other case reports.[1],[3],[10]

To conclude, a thorough physical examination is essential as it may lead to the finding of various syndromes that have been said to be associated with schizophrenia, thereby contributing to its genetic hypothesis.


The authors would like to thank Dr Ajit Naik for his inputs and having proof read the paper.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Quast TM, Sippert JD, Sauvé WM, Deutsch SI. Comorbid presentation of Kartagener's syndrome and schizophrenia: Support of an etiologic hypothesis of anomalous development of cerebral asymmetry? Schizophr Res 2005;74:283-5.  Back to cited text no. 1
Glick ID, Graubert DN. Kartagener's syndrome and schizophrenia: A report of a case with chromosomal studies. Am J Psychiatry 1964;121:603-5.  Back to cited text no. 2
Ermiş A, Türkcan A, Ceylan ME, Maner AF. Kartagener Syndrome and Psychotic Disorder: A Case report. J Psychiatry Neurol Sci 2009;22:32-5.  Back to cited text no. 3
Sutherland MJ, Ware SM. Disorders of left-right asymmetry: Heterotaxy and situs inversus. In: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. Vol. 151. Hoboken: Wiley Subscription Services, Inc., A Wiley Company; 2009. p. 307-17.  Back to cited text no. 4
Mohan I, Lowe M, Sundram S. Comorbid situs inversus totalis and schizophrenia in a young male. Aust N Z J Psychiatry 2013;47:966-7.  Back to cited text no. 5
Geremek M, Zietkiewicz E, Diehl SR, Alizadeh BZ, Wijmenga C, Witt M. Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25. J Med Genet 2006;43:e1.  Back to cited text no. 6
Deutsch SI, Burket JA, Benson AD, Urbano MR. The 15q13. 3 deletion syndrome: Deficient α7-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders. Prog Neuropsychopharmacol Biol Psychiatry 2016;64:109-17.  Back to cited text no. 7
Antony D, Becker-Heck A, Forouhan M, Schmidts M, Onoufriadis A, Shoemark A, et al. Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation. Cilia 2012;1:1.  Back to cited text no. 8
Mulle JG. The 3q29 deletion confers >40-fold increase in risk for schizophrenia. Mol Psychiatry 2015;20:1028-9.  Back to cited text no. 9
Finkelstein BA. Mental symptoms occurring in Kartagener's syndrome. Am J Psychiatry 1962;118:745-6.  Back to cited text no. 10


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