Published September 1, 2021 | Version v1

Kartagener's Syndrome With Infantile Spasms

Description

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 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.

Files

Kartagener’s Syndrome With Infantile Spasms.pdf

Files (708.2 kB)

Name Size
md5:077b4ad6cb9dad8793bb3dae770b9018
708.2 kB Preview Download