Kartagener’s Syndrome: A Rare Case

Sakshee Madan,Pankaj Abrol,- Richa Richa,Shashi Sharma

doi:10.3126/jnps.v40i2.28845

Sakshee Madan, Pankaj Abrol + Show 2 more

Open Access

https://doi.org/10.3126/jnps.v40i2.28845

Copy DOI

Abstract

Kartagener’s syndrome, an autosomal recessively inherited disorder, is a subgroup of primary ciliary dyskinesias. This genetic disorder manifests from early life which distinguishes it from acquired mucociliary disorders. Kartagener’s syndrome presents as a classical triad of situs inversus, sinusitis and bronchiectasis occurring majorly due to impaired ciliary motility. Here we report a case of a four year old female child who presented to us with repeated episodes of cough and intermittent breathlessness for the past three years. Clinical examination revealed bilateral coarse basal crepitations and apex beat on right fifth intercostal space in the midclavicular line. A thorough investigation revealed situs inversus, chronic sinusitis, and bilateral bronchiectasis. The patient underwent a high-speed video microscopy analysis which was suggestive of primary ciliary dyskinesia. Considering these findings, the patient was diagnosed as a case of Kartagener’s syndrome.

Highlights

Kartagener’s syndrome (KS) is a subtype of ciliary motility disorders called primary ciliary dyskinesia (PCDs) which is characterised by congenital impairment of mucociliary clearance
As the nodal cilia are defective, body asymmetry occurs randomly so that the heart along with the other organs fails to move on the left side which results in situs inversus totalis.[1]
We report a case of a four year old female child who presented with features suggesting Kartagener's syndrome

Summary

INTRODUCTION

Kartagener’s syndrome (KS) is a subtype of ciliary motility disorders called primary ciliary dyskinesia (PCDs) which is characterised by congenital impairment of mucociliary clearance. Kartagener's syndrome is the triad of situs inversus, chronic sinusitis and bronchiectasis. There were bilateral rhonchi with crepitations over both infrascapular regions bilaterally Her apex beat was palpable on the right fifth intercostal space in midclavicular line, otherwise, inspection and percussion findings were normal. High-speed video microscopy (HSVM test) was suggestive of primary ciliary dyskinesia With these findings of situs inversus with bronchiectasis and sinusitis, the patient met the criteria for diagnosis of Kartagener’s syndrome, a subgroup of primary ciliary dyskinesia. Genetic counselling of both parents was done and the risk of recurrence in future pregnancies was explained

DISCUSSION

CONCLUSIONS