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Abnormal cilia motility
24%
22/92
Adenosine deaminase deficiency
1%
1/92
Chloride channel defect
67%
62/92
Decrease in all immunoglobulin levels
2%
2/92
Tyrosine kinase abnormality
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This patient is presenting with repeat pulmonary infections and dextrocardia on chest radiograph suggesting a diagnosis of Kartagener syndrome (primary ciliary diskinesia with abnormal cilia motility). Primary ciliary dyskinesia (PCD) is most commonly caused by a dynein arm defect resulting in disordered cilia movement. It typically presents with infertility (as a result of immotile sperm and reduced fallopian tube motion), bronchiectasis, recurrent pulmonary infections, and recurrent sinusitis. The sinopulmonary issues result from reduced clearance of mucous due to the lack of normal ciliary sweeping action. The classic triad is chronic sinusitis, bronchiectasis, and situs inversus. Laterality defects are common in this condition (such as dextrocardia). Figure A displays a chest radiograph with dextrocardia which can be seen in Kartagener syndrome. Incorrect Answers: Answer 2: Adenosine deaminase deficiency is a defect that can cause severe combined immunodeficiency (SCID) which presents from birth with recurrent fungal, viral, and bacterial infections. These patients are critically ill and have a high morbidity and mortality. Answer 3: Chloride channel defect describes cystic fibrosis which presents with many symptoms from birth including GI symptoms (including weight loss, failure to thrive, and steatorrhea from birth) and pulmonary symptoms (with recurrent pneumonia with Pseudomonas aeruginosa as a common cause). Answer 4: Decrease in all immunoglobulin levels could be seen in common variable immunodeficiency (CVID) which presents in a younger adult with sudden onset repeat bacterial infections with low levels of all Ig subtypes. Treatment usually involves treating the individual infections and IVIG. Answer 5: Tyrosine kinase abnormality describes Bruton tyrosine kinase deficiency which presents around 6 months of age (as this is the age when maternal Ig declines) with repeat bacterial infections and low levels of Ig. Bullet Summary: Kartagener syndrome (primary ciliary dyskinesia) presents with dextrocardia and repeat pulmonary infections.
4.5
(11)
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