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CASE OF THE MONTH

Diagnostic challenges from your case files

Erich Fogg, PA-C, MMSc, department editor; Michelle Jacobs, PA-C

CASE

The patient is a 6-month-old boy who was brought to the clinic by his mother because he has had a "very wet cough," a light wheeze, and nonpurulent nasal discharge for 3 days. These signs are accompanied by a low-grade fever, a slight decrease in feedings, and difficulty sleeping. OTC cold medication and antipyretics seem to provide only temporary relief. In addition, the infant has been receiving albuterol nebulizations (prescribed during a previous visit) three times daily, which seem to lessen the wheezing.

History The infant is the product of an uncomplicated full-term pregnancy with adequate prenatal care that culminated in a normal spontaneous vaginal delivery. He was noted to be full of secretions in the neonatal period and has a history of multiple episodes of chronic serous otitis, bronchitis, bronchiolitis, and mild wheezing in the first few months of life. In addition, a diagnosis of asymptomatic situs inversus viscerum was made from a recent chest radiograph. A sweat test performed at age 4 weeks was negative. The family history is significant for a paternal uncle who has asthma. The surgical history is noteworthy for myringotomy performed at age 5 months secondary to chronic middle ear effusion.

Physical exam The physical exam revealed a well-developed, well-nourished infant in no acute distress. Although his breathing was audibly noisy, it was in no way labored. His chest was symmetrical, and he had good excursion with each breath. On auscultation, some upper airway congestion was heard. No crackles, wheezes, or cyanosis was noted. The remainder of the physical exam was significant only for slightly boggy turbinates. The patient was referred to a pediatric pulmonologist, who decided that in addition to a CBC and chest radiograph, a tracheal biopsy was in order because of the chronicity of symptoms (see Figure 1).

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WHAT IS THE MOST LIKELY DIAGNOSIS?

Alpha₁-antitrypsin deficiency
Cystic fibrosis
Kartagener's syndrome
An immunodeficiency state (ie, HIV disease or cancer)

DISCUSSION

The patient has the unique diagnosis of Kartagener's syndrome, with a supplementary upper respiratory tract infection. No leftward shift was noted on CBC, and the chest radiograph was remarkable for dextrocardia with situs inversus but with clear lung fields. The tracheal biopsy was classic for immotile cilia syndrome and showed the sporadic absence of the dynein arms from ciliated cells. Because situs inversus can often be associated with cardiac defects, echocardiography was performed; results appeared to be normal.

Treatment The parents were counseled regarding the implications of their child's condition. Treatment was symptomatic and preventive and included chest physical therapy to help drain bronchial secretions. The patient's recent myringotomy will further serve to keep the middle ear clear of fluid build-up. A mucus-thinning agent was added to the albuterol regimen, and the parents were instructed to bring the child to the clinic at the first sign of respiratory infection.

Comment Kartagener's syndrome, first described in 1933, consists of a combination of situs inversus and immobile or defective cilia. It is an autosomal recessive condition, and the incidence has been estimated at 1 in 32,000 persons; one fourth of those with situs inversus also have defects in the structure of their cilia.¹

The most common cilial abnormality, and the one that affected the patient in this case, is the absence of the dynein arms. These structures are highly responsible for ciliary motion. Since the respiratory passages cannot be properly cleared in patients with this abnormality, stagnant mucus builds up and serves as a breeding ground for the growth of bacteria and chronic infection. Because spermatozoan flagella require intact dynein molecules to be mobile, most males with Kartagener's syndrome are infertile. (Interestingly, although fallopian tubes have a ciliated mucosa and the ciliary beats are believed to transport the ovum, there is no evidence of decreased fertility, increased incidence of ectopic pregnancies, or more frequent spontaneous abortion in females with this syndrome).

Treatment is aimed at controlling symptoms and minimizing complications in the upper and lower respiratory tracts. Chest physical therapy and postural drainage should begin early in life. Myringotomy is recommended as well. Prophylactic antibiotics may be justified in this disease, with the decision based on clinical grounds. While chronic childhood infections may be very debilitating, many patients go on to lead near-normal adult lives.

REFERENCE

1. Freedom R, Shi-Yoon Y, Mikailian H, Williams WG, eds. The Natural and Modified History of Congenital Heart Disease. Malden, Mass: Blackwell Publishing; 2004:31-44.

Ms. Jacobs is an obstetric and gynecologic physician assistant at Coney Island Hospital, Brooklyn, NY. The author has indicated no relationships to disclose relating to the content of this article. Mr. Fogg is Assistant Professor in and Program Director of the Physician Assistant Program at the College of Health Professions, University of New England, Portland, Me.