Case Report:
13 year old male with history of situs inversus
presents with long-standing nasal congestion
Vanessa G. Wittstruck
Lock Haven University
November 25, 2012
Abstract
In pediatric patients, recurrent respiratory infections and otitis media are fairly common, however when
an individual presents with a history of respiratory infections that have been refractory to traditional
treatment regimens, it is important to consider other factors including genetic and structural anomalies.
One such subgroup to consider in pediatric patients with chronic respiratory infections is primary ciliary
dyskinesia (PCD), a genetic disorder that produces variable levels of ciliary dysfunction. Individuals with
PCD often present with a history of chronic respiratory infections, sinusitis and otitis media (Forkol
2011). Interestingly, these individuals often have left-right laterality defects anatomically, such as situs
inversus (Forkol 2011). Therefore, in pediatric patients who present with recurrent respiratory
infections and have an anatomical abnormality such as situs inversus, it is important to add PCD to the
differential diagnosis. A diagnosis of PCD is based on clinical presentation, biopsy and evaluation of
ciliary structure, and possible genetic testing. Identifying PCD early is essential to patient care as PCD is
a progressive disorder that can result in bronchiectasis and respiratory failure if not identified and
treated (Bergstrom 2012). Treatment of PCD consists of early antibiotic treatment of respiratory
infections and symptomatic relief via chest physiotherapy (Bergstrom 2012).
Case Report
CC: Nasal congestion and occasional purulent nasal discharge that has been occurring for “years”
HPI: Patient is a 13 year old male who presents to the office with long-standing nasal congestion and
occasional purulent nasal discharge. When asked by his mother how long the patient has been
experiencing this nasal congestion, she states that he has had it for “years”. He has previously been
prescribed Flonase and Claritin for his nasal congestion; however, patient and his mother state that
these medications have been largely ineffective. Patient also complains of being fatigued most of the
time, even though he averages nine hours of sleep a night. His primary concern is that his congestion
can become so bad he has to breathe through his mouth. He notes that his congestion tends to be
slightly worse in the spring and fall, but that he usually has some amount of congestion year round. He
has also been coughing periodically with some production of white sputum, however he denies
experiencing this recently. Currently, he is not taking any medications for the congestion.
Additionally, patient was diagnosed as situs inversus as an infant. At the time of his diagnosis, his
mother recalls that the patient went through an extensive work-up, including evaluation for heart
defects and respiratory abnormalities. She states that her son was given a clean bill of health. The
patient does have a history of recurrent otitis media and sinusitis, as well as seasonal allergies.
Patient denies fevers, chills, weight loss or gain, changes in appetite, nausea, vomiting or changes in
bowel habits. He believes his congestion has gotten worse over the past month, and states it is
currently close to the worst it has ever been, in his experience.
Medications: Daily OTC Multivitamin with iron supplement
Allergies: NKDA
Past Medical History: Situs Inversus; Recurrent otitis media of right and left ear (last infection
approximately 2 years ago); Recurrent sinusitis (last infection treated in March 2012); Seasonal Allergies
Family History: Mother: 41 years old, secretary at local school; History of hypertension
Father: 42 years old, factory worker; History of asthma (as child)
Sister: 9 years old; Healthy
Maternal Grandmother: 69 years old; History of dyslipidemia and hypertension
Maternal Grandfather: 73 years old; History of CAD, DM
Paternal Grandmother: 75 years old: History of MI at 65, CABG
Paternal Grandfather: 76 years old; History of prostate cancer
Social History: Patient lives at home with his mother, father and younger sister. His parents are both
non-smokers and patient denies any exposure to second-hand smoke; Denies tobacco use, consumption
of alcohol or illicit drugs; Patient is active in school sports including soccer
Surgical History: Myringotomy tubes, bilateral (2004)
Immunizations: Current, including Gardasil vaccine and Flu-mist vaccine
Physical Exam:
Vitals: BP 118/82 (left arm) HR 76 Temperature 99.1F (tympanic) RR 16 SpO2 97% (room air)
Height: 62 inches Weight: 45kg BMI: 18.1
General: Patient is sitting on exam table in no acute distress; He does appear to be breathing through
his mouth and sounds congested; Patient also appears somewhat fatigued and has dark circles under his
eyes
Skin: Warm, dry; No rashes, contusions or lacerations; No pallor, cyanosis, edema noted
Head/Mouth: Normocephalic, atraumatic; No sinus tenderness of maxillary or frontal sinuses
Eyes: PERRLA; Visual acuity 20/25 bilaterally, without correction; EOM and visual fields intact;
Conjunctiva mildly injected bilaterally, no discharge; Sclera clear; No ptosis or nystagmus noted;
Fundoscopic exam shows cup-to-disc ratio of 1:3
Ears: No deformities to external ear; Some scarring of right tympanic membrane noted;where?
Tympanic membranes are intact and grey in color bilaterally, no erythema, bulging or loss of mobility
Nose: Nostrils patent bilaterally with no obstructions; Erythema and small amount of purulent discharge
bilaterally; No septal deviation or polyps
Throat: Trachea midline; Oral mucosa moist; Minimal pharyngeal erythema; No tonsillar hypertrophy;
No lesions, ulcers or masses in the oral cavity; Uvula midline
Lymphatics: No lymphadenopathy of anterior/posterior cervical, axillary, or supraclavicular regions.
Rest of nodes?
Respiratory: Non-labored respirations; No use of accessory muscles or intercostal retractions; No
audible wheezing; No chest wall tenderness or dullness to percussion; Expiratory wheezing bilaterally
upon auscultation;where? Throughout or just at bases, apices? No rales/rhonchi/stridor noted
Cardiovascular: Dextrocardia noted via heart sounds more prominent on right; R/R/R; S1 and S2
appreciated; No peripheral edema; No murmurs/gallops/rubs; Radial and dorsalis pedis pulses equal
bilaterally, +2/4
Abdominal: Non-distended; No bruits noted; No scars, masses visualized; Bowel sounds present and
equal x4; Soft, non-tender with no organomegaly; Liver percussed on patient’s left side
Genitourinary: Circumcised genitalia, Tanner Stage 2 development; Testicles distended bilaterally; No
CVA tenderness
Musculoskeletal: Full active ROM of all extremities noted; Motor and sensory function intact
Differential Diagnosis:
Infectious Sinusitis
Allergic Sinusitis
Primary Ciliary Dyskinesia
Reactive airway disease
Kartagener Syndrome
Plan:
1.) Infectious Sinusitis: Due to the extended course of the patient’s nasal congestion and
purulent discharge, began Amoxicillin 400/5mL, 7.5 mL PO BID x 10 days.
2.) Reactive airway disease: Prescribed albuterol inhaler for control of his wheezing
3.) Due to refractory nature of patient’s congestion and his situs inversus, referred patient to
pediatric pulmonologist and allergist for further evaluation, including evaluation for possible
primary ciliary dyskinesia
4.) Chest x-ray
5.) Schedule spirometry to evaluate patient’s lung function after his congestion and wheezing
improve
Results:
Following patient’s initial evaluation, the pediatric pulmonologist felt as though the patient’s
clinical phenotype was consistent with primary ciliary dyskinesia. However, to confirm the
diagnosis he also obtained nasal and bronchial brushings/biopsy which revealed ciliary
dyskinesia. Notably, the pediatric pulmonologist did not believe that the patient had
bronchiectasis, which ruled out Kartagener’s syndrome at this time. Additionally, the chest x-ray
was read as normal and the patient’s spirometry revealed a mild obstructive pattern with
reversibility.
Diagnosis:
Primary Ciliary Dyskinesia
Treatment:
1.) Aggressive antibiotic treatment of future respiratory infections
2.) Daily chest physiotherapy
3.) Regular monitoring of lung function via spirometry
Discussion:
Primary ciliary dyskinesia (PCD) is an inherited disorder in which ciliary function is adversely affected
throughout the body. Most cases of PCD are inherited in an autosomal recessive fashion, with an
incidence between 1:15,000 to 1:60,000 live births (Gudis & Cohen 2010). There are also rare X-linked
and autosomal dominant varieties of PCD (Fenkol 2011). Depending on the genotype involved, there is
some variability in the amount of ciliary dysfunction, ranging from an inability of the cilia to beat
normally all the way to a complete lack of cilia altogether (Bergstrom 2012). Therefore, there can be
some variability in the clinical manifestation of individuals with PCD.
Most often, patients with PCD are diagnosed during childhood after presenting with chronic recurrent
upper and lower respiratory infections, sinusitis and otitis media (Gudis & Cohen 2010). In fact, the
prevalence of PCD in children with recurrent respiratory infections is estimated to be as high as high as
5% (Forkel 2011). However, it is important to note that the effects of PCD are not limited to the upper
and lower respiratory tracts, as it is also linked with left-right laterality defects, most notably situs
inversus, and even infertility, due to immotile sperm or ciliary dysfunction in the fallopian tubes (Ferkol
2011). Interestingly, approximately 50% of patients with PCD are situs inversus and this is largely
attributed to the fact that in embryonic development “embryonic nodal cilia are integral in the leftright orientation of visceral development” (Gudis & Cohen 2010). Situs inversus is the complete reversal
of an individual’s circulatory system and viscera (Bergstrom 2012). It is important to note that only 20 to
25% of individuals with situs inversus have chronic bronchitis or sinusitis, therefore, situs inversus can be
a benign anomaly and does not automatically lead to a diagnosis of PCD (Bergstrom 2012).
Due to the impaired mucociliary clearance in individuals with PCD, one adverse effect that can develop
is bronchiectasis, the irreversible dilation of the bronchi and bronchioles, secondary to prolonged
inflammation (PubMed 2012). If an individual suffers from chronic sinusitis, bronchiectasis and is also
situs inversus, he or she is said to have Kartagener Syndrome, or Kartagener’s triad (Gudis & Cohen
2011).
The gold standard for diagnosis of PCD is a combination of clinical presentation and transmission
electron microscopy, which allows for evaluation of ultrastructural defects of the cilia (Forkel 2011).
Additional methods used to diagnosis PCD include the saccharin test, which evaluates mucociliary
function, analyzing nasal and bronchial brushings, and measuring nasal nitric oxide concentrations,
which are decreased in patients with PCD (Forkel 2011). Furthermore, there are genetic tests available
to test for the most common mutations associated with PCD (Forkel 2011).
Since there are no treatment options that correct ciliary dysfunction, treatment of PCD is designed to
maintain lung function and delay or avoid the progression to bronchiectasis (Forkel 2011). Monitoring
PCD patients is primarily through regular spirometry, chest radiographs, and the use of high-resolution
computed tomography (HRCT), which is more sensitive for detecting the development of bronchiectasis
(Bergstrom 2012). Additionally, daily chest physiotherapy, including postural changes and use of
mucolytic agents, can help provide symptomatic relief of congestion (Bergstrom 2012).
Providers are encouraged to use antibiotics liberally, even with mild respiratory infections, in an effort
to delay progression of bronchiectasis and loss of lung function (Bergstrom 2012). Sputum cultures can
be obtained to tailor antibiotic regimens (Forkel 2011). Patients with PCD are also encouraged to
receive the annual influenza vaccine as well as the pneumococcal vaccine (Bergstrom 2012). Avoiding
the use of tobacco products or exposure to passive smoke can also delay progression of PCD (Bergstrom
2012).
In rare cases, PCD may require surgical intervention, including possible lung transplantation for patients
secondary to respiratory failure (Bergstrom 2012). Counseling PCD patients about potential infertility
issues is also important, and in vitro fertilization can be a viable option for patients (Bergstrom 2012).
In regards to the above mentioned case, the patient’s clinical presentation of chronic respiratory
infections, recurrent otitis media and situs inversus all lead to PCD being an important consideration in
his differential diagnosis. Even though he had a previous work-up as an infant that did not identify PCD,
it is important to remember that many PCD patients are first diagnosed later in childhood. In fact, PCD
is most commonly diagnosed in patients who are 4 years old and above (Forkel 2011). Diagnosing PCD
early is also essential to helping maintain lung function and delaying progression of the disease. As
mentioned, treatment primarily consists of early, aggressive antibiotic treatment of infections and chest
physiotherapy to provide symptomatic relief.
Fortunately, the patient had not yet developed bronchiectasis, so he did not have Kartagener Syndrome.
However, with should his PCD progress to bronchiectasis later in life, he would then meet the criteria for
Kartagener Syndrome. To continue close monitoring of his lung function, the patient was scheduled for
follow up with the pediatric pulmonologist and encouraged to visit his PCP for evaluation of suspected
respiratory infections. Fortunately, with early diagnosis and treatment, providers can help slow the
progression of PCD, allowing individuals with PCD to live a normal to near-normal life expectancy (Forkel
2011).
Summary:
Primary ciliary dyskinesia (PCD) is an inherited disorder that results in variable levels of cilia dysfunction
throughout the body. Clinical manifestations of PCD include chronic respiratory infections, sinusitis and
otitis media as well as left-right laterality defects, like situs inversus, due to errors in embryonic
development (Forkol 2011). Although PCD is relatively rare, it is important to evaluate children with
chronic respiratory infections for the disorder, as it can be present in up to 5 percent of this population
(Forkel 2011). Diagnosis is based on a combination of clinical symptoms, evaluation of ciliary structure
and genetic testing. Early diagnosis is essential to improved outcomes as PCD can lead to bronchiectasis
and even respiratory failure if left untreated (Bergstrom 2012). Treatment is designed to provide
symptomatic relief and delay progression of the disease. This primarily consists of early and aggressive
antibiotic treatment of respiratory infections and chest physiotherapy. Regular monitoring of lung
function, including spirometry and chest radiographs is also encouraged.
References:
Bergstrom, S.E. (2012). Primary Ciliary Dyskinesia (Immotile-Cilia Syndrome). UpToDate.com
Forkol, T. (2011). Primary Ciliary Dyskinesia (Immotile Cilia Syndrome). Kliegman: Nelson Textbook of
Pediatrics (19th edition), 1497-1500.
Gudis, D.A., & Cohen N.A. (2010). Cilia Dysfunction. Otolaryngologic Clinics of North America 43(3): 464465.
Zieve, D. (2012). Bronchiectasis. PubMed Health. Retrieved from:
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001199/
Good case, Vanessa! 29/30