Kartagener's Syndrome With Infantile Spasms

Utkarsh Bansal, Ekansh Rathoria, Aishwarya Bajpai, Venkata Sai Kumar, Satvik Jaiswal
2021 Zenodo  
artagener's syndrome is an autosomal recessive disorder. It is a subset of primary ciliary dyskinesia that is characterized by situs inversus totalis (mirror-image reversal of internal organs) [1]. The signs and symptoms include respiratory distress in neonates, frequent infections of lung, sinus, and middle ear starting in early childhood, chronic nasal congestion, hydrocephalus, and infertility [1]. Its incidence is about 1 in 30,000 live births. Because of immotile spermatozoa, male patients
more » ... with this syndrome are almost always infertile [2]. The diagnosis is quite often delayed until late childhood or adulthood because of the disease's diversity, paucity of physician knowledge of disease characteristics, and the technical expertise required for making a correct diagnosis of primary ciliary dyskinesia. Primary ciliary dyskinesia should be considered in the differential diagnosis of several clinical presentations, like unexplained respiratory distress and/or laterality defect, chronic cough, nasal drainage, and sino-pulmonary disease in infants and children.
doi:10.5281/zenodo.7750306 fatcat:wfmki3wcwbdqnh7yva6zfvbpsi