What's in the Differential Diagnosis of Fever?

Patient Presentation
A 5-year-old male came to clinic for a second opinion of fever referred by his local physician.
Eight weeks previous he had a fever to 40° C and exudative pharyngitis treated with penicillin which was stopped after 2 days because the culture was negative.
The fever continued off and on for the next two weeks up to 39.5° C. Laboratory testing at that time was negative including a complete blood count, differential and monospot.
He was then improved until about 4 weeks previous when he had flu-like symptoms, sore throat, lethargy, and fever to 39° C for 24 hours. He was diagnosed with sinusits and was placed on amoxicillin for 10 days.
He was again improved until 3 weeks ago when he complained of mild right leg pain. Three days later he became febrile and he had a mild limp. He was seen by his local physician again who was concerned about septic arthritis.
Erythrocyte sedimentation rate was 75 mm/hour and the hip ultrasound found a small effusion but no aspiration was done or antibiotics given. A bone scan the following day was negative.
Since that time the leg pain had ceased and he had two fevers to 38.1° C.
The past medical history revealed a healthy child.
The family history was positive for heart disease, thyroid disease, and pyloric stenosis.
The social history revealed traveling to Florida before the first fever. The patient is in childcare where there is a rabbit. Ther is no water exposure.
The review of systems was negative including no joint pain, muscle pain, rashes, weight changes, gastrointestinal or genitourinary complaints.
The pertinent physical exam showed a smiling boy with growth parameters in the 50%. The examination was negative except for bilaterally small axillary nodes and shoddy groin nodes. He had full range of motion in all joints and no pain.
The diagnosis of fever most likely secondary to multiple viral infections (possibly Epstein-Barr virus) and toxic synovitis was made.
The laboratory evaluation that day included a erythrocyte sedimentation rate, C-reactive protein, immunoglobulins, Complement 3, Complement 4, liver function tests, rheumatoid factor, creatinine kinase, and viral titers including Epstein-Barr virus IgG.
These were to screen for viruses, inflammatory bowel disease, rheumatological disease and possible immunodeficiency. These were all found to be negative.
The consulting physician recommended to the private physician to monitor the patient closely and if the fevers returned to possibly evaluate for thyroid disease and tularemia.

Discussion
Fever is a common concern for parents and for health care providers alike. It is defined as a temperature > 100.5° F or 38.0° C usually determined rectally.
Fever by itself rarely causes a problem for children unless it is extreme, i.e. > 106° F or 41.1° C .
However, fever says that something is not right with the body and that the body is reacting to it, usually as a self-protective mechanism.

The differential diagnosis is extensive but self-limited illnesses predominate. Careful history and physical examination along with judicious use of laboratory testing and careful monitoring of the patient for new or changing symptoms usually elucidates a reason for the fever.

Common definitions:

  • Fever without localizing signs or fever without a source indicate a fever whose cause cannot be found currently after careful history and physical examination and does not meet the criteria for fever of unknown origin. Most occur for < 1 week.
  • Fever of unknown origin is a fever at least twice per week that lasts more than 3 weeks without associated signs of acute toxicity with a basic laboratory evaluation that is negative.
  • Fever in a neonate is a fever without localizing signs in a neonate usually &lt; 28 days but some people extend the timing to < 3 months of age.

Learning Point
The differential diagnosis of fever includes:

  • Allergic
    • Drug reaction – malignant hyperthermia
    • Vaccine reaction
    • Serum sickness
  • Dermatologic
    • Ectodermal dysplasia
  • Immunologic
    • Agammaglobulinemia
    • Hypergammaglobulinemia
  • Infection (by location)
    • Cardiac
      • Endocarditis
      • Myocarditis
      • Pericarditis
    • Dermatologic
      • Cellulitis
      • Exanthems (see also Systemic below)
        • Bacterial
          • Meningococcemia
          • Rocky Mountain spotted fever
          • Scarlet fever
          • Syphilis
          • Others
        • Viral
          • Coxsackie
          • Enterovirus
          • Roseola
          • Rubeola
          • Rubella
          • Varicella
          • Many others
    • Gastrointestinal
      • Abscess, intraabdominal
      • Appendicitis
      • Cholangitis
      • Gastroenteritis, acute
      • Hepatitis
      • Mesenteric adenitis, acute
      • Pancreatitis
      • Peritonitis
    • Genitourinary
      • Abscess, perinephric
      • Epididymitis/orchitis
      • Salpingitis/tubo-ovarian abscess
      • Prostatitis, acute
      • Pyelonephritis
    • Musculoskeletal
      • Septic arthritis
      • Myositis
      • Osteomyelitis
    • Neurologic
      • Abscess
      • Encephalitis
      • Meningitis
    • Ophthalmological
      • Orbital cellulitis/abscess
      • Periorbital/preseptal cellulitis
    • Respiratory tract
        • Upper respiratory tract
          • Abscess – alveolar, peritonsillar, retropharyngeal and lateral pharyngeal wall
          • Adenitis
          • Croup
          • Epiglottitis
          • Otitis media
          • Mastoiditis
          • Parotitis – acute suppurative, mumps
          • Pharyngitis
          • Sinusitis
          • Stomatitis – gingivostomatitis, herpangina
          • Tonsillitis
        • Lower respiratory tract
          • Abscess
          • Bronchitis
          • Bronchiolitis
          • Pneumonia
          • Tuberculosis, pulmonary
      • Systemic (see also Exanthems above)
        • AIDS/HIV
        • Bacterial sepsis
        • Bacteremia, occult
        • Bacteria
          • Brucellosis
          • Cat-scratch disease
          • Leptospirosis
          • Salmonellosis
          • Tuberculosis
          • Tularemia
        • Chlamydia
          • Lymphogranuloma venereum
          • Psittacosis
        • Fungal
          • Blastomycosis
          • Histoplasmosis
        • Parasitic
          • Malaria
          • Toxoplasmosis
          • Visceral larval migrans
        • Rickettsial
          • Q fever
          • Rocky Mountain spotted fever
        • Viruses
          • Cytomegalovirus
          • Epstein-Barr
          • Hepatitis viruses
  • Metabolic
    • Acute intermittent porphyria
    • Diabetes insipidus, central and nephrogenic
    • Etiocholanolone fever
    • Thyrotoxicity
  • Neoplasm
    • Ewing’s sarcoma
    • Hodgkin’s lymphoma
    • Leukemia
    • Lymphoma
    • Neuroblastoma
  • Neurologic
    • CNS lesions of the hypothalamus/brainstem
    • Riley-Day syndrome
    • Seizures, prolonged
    • Subdural effusions
  • Poisoning/toxins
    • Atropine
    • Amphetamine
    • Cocaine
    • LSD
    • Salicylates
    • Other drugs with anticholinergic effects, i.e. anti-depressants
  • Vasculitic
    • Acute rheumatic fever
    • Dermatomyositis/polymyositis
    • Henoch-Schonlein purpura
    • Juvenile rheumatoid arthritis
    • Kawasaki Disease
    • Mixed connective tissue disorder
    • Polyarteritis nodosa
    • Stevens Johnson
    • Systemic lupus erythematosus
  • Other
    • Caffey’s disease
    • Dehydration
    • Crush injuries
    • Factitious/malingering
    • Familiar Mediterranean fever
    • Heat illness and heat stroke
    • Hemolysis, intravascular
    • Hemorrhage into enclosed spaces
    • Inflammatory bowel disease
    • PFAFA syndrome – periodic fever, aphthous ulcers, pharyngitis and adenopathy
    • Sarcoid

Questions for Further Discussion
1. What laboratory testing should be included in the outpatient investigation of fever without a source?
2. What laboratory testing should be done for a fever in a neonate?

Related Cases

    Disease

      Fever
      Fever without localizing signs

To Learn More
To view pediatric review articles on this topic from the past year check PubMed.

Information prescriptions for patients can be found at MedlinePlus for this topic: Fever
and at Pediatric Common Questions, Quick Answers for this topic: http://www.virtualpediatrichospital.org/patients/cqqa/feverlevel.shtml

To view current news articles on this topic check Google News.

To view images related to this topic check Google Images.

Fleisher GR, Ludwig S. Synopsis of Pediatric Emergency Medicine. Williams and Wilkins. Baltimore, MD. 1996:90-95.

Illingworth RS. Common Symptoms of Disease in Children. Blackwell Scientific Publications: Oxford. 1998:31-39.

Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:893-895.

Woodhead JC. Pediatric Clerkship Guide. Mosby. St. Louis MO, 2003:250-256.

Feigin RD, Cherry JD, Demmler GJ, Kaplan SL. Textbook of Pediatric Infectious Diseases. 5th edit. Volume 1. Saunders, Philadelphia, PA. 2004;825,831.

ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Interpersonal and Communication Skills

    19. The health professional works effectively with others as a member or leader of a health care team or other professional group.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, Children’s Hospital of Iowa

    Date
    August 27, 2007

  • How Do You Categorize Bladder Dysfunction?

    Patient Presentation
    A 9-month-old female came to the emergency room with with runny nose and fever to 101° F
    for 2 days. She was found to have a left otitis media and was treated with amoxicillin.
    She did well with resolution of the fever and improvement of the rhinorrhea, but then had a fever to 103° F on day 4. Her parents brought her back to the emergency room. The laboratory evaluation found a white blood cell count of 10.3 x 1000/mm2 with bands of 8%, and a urinalysis that was leukocyte esterase positive with 45 white blood cells/high powered field.
    She was admitted to the floor for presumed pyelonephritis and possible bacteremia.
    The past medical history showed a normal prenatal history and birth. She had no prior urinary tract infections.
    The family history was negative for kidney or otologic disease.
    The review of systems was negative, and she was drinking and urinating well.
    The pertinent physical exam showed a tired-appearing infant with growth parameters in the 25-50%, whose temperature was 38.2° C, pulse of 118, respiratory rate of 42 and blood pressure of 95/60.
    HEENT revealed a mild amount of serous fluid in the left ear with normal mobility and slightly splayed light reflex and mild rhinorrhea. Lungs, heart and abdomen were normal. She had normal genitalia.
    The laboratory evaluation included blood and urine cultures which were negative presumably because she had received the amoxicillin. The C-reactive protein was 3.8 mg/dl, BUN was 10, and creatinine was 0.4 mg/dL.
    The radiologic evaluation included an ultrasound of the kidneys during hospitalization which showed right hydronephrosis.
    The patient’s clinical course showed she was clinically improving over two days and became afebrile. She was discharged on treatment doses of trimethoprim-sulfamethoxazole and then prophylactic doses.
    Two weeks later, she had a voiding cystourethrogram which showed vesiculoureteral reflux and significant chronic changes to the bladder similar to a neurogenic bladder.
    The diagnosis of right hydronephrosis with chronic bladder changes was made. The patient was referred to urology for further evaluation and magnetic resonance imaging study of the spine was also ordered. She is continuing her trimethoprim-sulfamethoxazole while she awaits further evaluation.


    Figure 50 – Sagittal ultrasound image of the right kidney shows a mild to moderate amount of hydronephrosis.


    Figure 51 – Supine spot film of the abdomen taken during a voiding cystourethrogram demonstrates right grade 2 vesicoureteral reflux. Note the bumpy, trabeculated contour of the bladder, signifying the presence of a neurogenic bladder. The right ureter was felt to insert into one of these bladder trabeculations / diverticuli.

    Discussion
    Normal micturition is a complex process divided into two phases: filling (and storage) and voiding. During normal micturition, the urethra and bladder neck gradually open, the detrusor muscle of the bladder contracts and the urine flows.
    This is coordinated in the pontine micturition center and through nerves in T10-L2 and S2-S4.

    Therefore any abnormalities of the brainstem, and much of the spinal cord may cause bladder dysfunction. An incoordination of the normal micturition process also causes bladder dysfunction.
    Micturition is a normal developmental process which usually concludes in school-age children.

    Learning Point
    The differential diagnosis of bladder dysfunction is first categorized on the presence or absence of identifiable neurological or anatomical abnormalities.
    If no abnormalities are identifiable, then the bladder dysfunction is further categorized based upon which phase of micturition process is abnormal.

    • Normal developmental process
      • Nocturnal enuresis
      • Diurnal enuresis
    • Neurogenic bladder dysfunction
      Definition: neurological, musculoskeletal and/or anatomical abnormalities are identifiable
      Patients are at risk for incontinence, urinary tract infections, vesicoureteral reflux and constipation

      Causes of neurogenic bladder include:

      • Meningomyelocoele
      • Tethered cord
      • Sacral anomalies
      • Spinal cord or brainstem infection, trauma or tumor
      • Muscular dystrophy

    • Non-neurogenic bladder dysfunction or functional incontinence
      Definition: neurological, musculoskeletal and/or anatomical abnormalities are not identifiable but due to functional deficits.
      • Defects during the micturition filling phase
        • Urge syndrome and urge incontinence

          • Clinically: Frequent urgent need to void with voluntary contraction of the pelvic floor muscles
          • Physiologically: Detrusor overactivity during filling phase causes urgent need to void with voluntary contraction of the pelvic floor muscles to counter the voiding
          • Voiding phase is normal
      • Defects during the micturition voiding phase
        • Dysfunctional voiding
          • Clinically: incontinence, urinary tract infections and constipation are common presentations
          • Physiologically: poor coordination or dysfunction of the contraction of the bladder and relation of the pelvic floor muscles. This could be caused by an overactive bladder or learned condition
        • Staccato voiding
          • Clinically: has prolonged urination times and may have residual urine
          • Physiologically: intermittent bursts of pelvic floor activity during voiding
        • Fractionated voiding
          • Clinically/Physiologically: incomplete and infrequent voiding, ie. voiding in different fractions, bladder volumes are large and usually has residual urine
        • Lazy bladder syndrome
          • Clinically: infrequent voiding and urinary tract infections, possibly overflow incontinence
          • Physiologically: increased bladder capacity with no detrusor contraction during voiding. Voiding is accomplished by abdominal pressure.

    Questions for Further Discussion
    1. What are the treatment options for neurogenic bladder?
    2. What are the treatment options for non-neurogenic bladder?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Information prescriptions for patients can be found at MedlinePlus for these topics: Urinary Incontinence and Bladder Diseases.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Nijman RJ. Neurogenic and non-neurogenic bladder dysfunction. Curr Opin Urol. 2001 Nov;11(6):577-83.

    Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:538-539.

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement

    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, Children’s Hospital of Iowa

    Date
    August 20, 2007

  • How Do You Treat An Auricular Hematoma?

    Patient Presentation
    A 15-year-old male came to the emergency department with a large bump on the helix of his right ear pinna.
    He was a wrestler and was not wearing his protective headgear during practice as he usually did and said that he had sustained repeated trauma to the right ear.
    He said that “usually I don’t get hit that much.” He remembered a particular elbow hit to his ear just before the end of practice and that his ear was really sore.
    Over several hours his ear swelled up and became more painful, but he put ice on it and took some acetaminophen.
    The past medical history was non-contributory.
    The review of systems was negative.
    The pertinent physical exam showed a male in no acute distress with growth parameters in the 50-95%.
    His right pinna showed a 2×2 centimeter tumor on the dorsal surface that was reddened, slightly compressible andvery painful. His neurological examination was normal as was the rest of his examination.
    The diagnosis of an auricular hematoma was made. After discussing the need to relieve the pressure on the ear and the cartilaginous structures, and the need to wear his protective head gear for any competition and practice,
    the ear was prepped and draped. A 20-gauge need was inserted and 3 cc of blood were obtained. With compression, additional blood was released through the puncture site.
    A compression bandage was placed onto the ear to prevent re-accumulation of the blood or serous fluid.
    The patient was instructed to return to clinic for re-evaluation with no practice or competition until he was seen. The following day, the bandage was removed and there was no re-accumulation. The cartilaginous structures appeared intact. He was reevaluated on two subsequent days and continued to have no reaccumulation.
    The patient was instructed daily to wear his head gear during all competitions and practices to prevent recurrence.

    Discussion
    Auricular hematomas are common injuries particularly in wrestlers. They can also occur because of other direct trauma to the external ear structures which causes separation of the perichondrium from the underlying cartilage.
    Auricular hematomas are potential problems because the pressure from the hematoma may cause destruction of the underlying avascular cartilagenous structures similar to nasal hematomas on the nasal septum.
    Therefore it is important to relieve the pressure. Repeated trauma to the ear structures with underlying destruction and remolding of the cartilagenous structures is unfortunately common in wrestlers and is termed “cauliflower ear” because of its appearance.
    Protective headgear should be used for all practices and competition and can reduce the chances of injury. The headgear itself should be properly fitted so that it does not cause injury to the ear itself.

    Auricular hematomas may be on the ventral (near the ear canal) or dorsal (near the scalp) location or both. There can also be a single or multiple hematomas.

    Learning Point
    Acute auricular hematomas (&lt; 7 days) should be drained completely. Lidocaine (1% usually without epinephrine, but some people use epinephrine) can be infiltrated into the incision site.

    Needle aspiration can be preformed and often still is but reaccumulation occurs more often. This is accomplished using an 18 or 20-gauge needle punctured into the most fluctuant area and attempting to evacuate all of the accumulated blood.
    If reaccumulation occurs then the incision and drainage technique should be performed.

    Incision and drainage can be performed using a No. 15 scalpel and making a small incision (~5 mm) into the hematoma. The skin and perichondrium are separated from the hematoma and the hematoma is expressed or suctioned taking care not to injure the perichondrium.
    The remaining hematoma pocket can be irrigated with normal saline. The perichondrium is then reapproximated and an optional drain may be left in place (and should be removed in 24 hours if there is no significant drainage or reaccumulation.

    A compression bandage, not a simple bandage should be placed over the ear to prevent reaccumulation. Dry gauze is placed into the external canal. The rest of the external canal and anterior pinna can then be completely filled with petroleum gauze or moist gauze.
    A gauze pack with 3-4 layers of gauze with a V cut out is placed between the head and the pinna with the interior part of the V against the pinna to fit snugly (i.e. the V is on its side with the point of the V directed toward the back of the head).
    Gauze fluffs can be placed over the top of all bandages. The fluffs are then held in place using a gauze or elastic bandage encircling the head and coming under the chin. This is similar to a compression bandage for a head wound.

    Antibiotics to cover for skin flora are recommended for 7-10 days. The patient needs to be seen every 24 hours for several days to check for reaccumulation.
    If multiple lesions are present, then multiple drainages should be carried out.

    Chronic auricular hematomas (> 7 days) should be referred to an otolaryngologist because of increased risk of complications.

    Questions for Further Discussion
    1. What other sports have an increased risk of auricular hematomas?
    2. For various sports, list the proper safety gear a player should use?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Ear Disorders.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Leybell I, Regan L. Auricular Hematoma Drainage. Available from the Internet at http://www.emedicine.com/proc/topic82793.htm (rev. 11/3/2006, cited 6/19/2007).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    7. All medical and invasive procedures considered essential for the area of practice are competently performed.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, Children’s Hospital of Iowa

    Date
    August 13, 2007

  • How Often Do Cervical Spine Radiographs Need to Be Obtained for Down Syndrome Patients?

    Patient Presentation
    A 17 year-old male came to clinic for a pre-operative physical examination and assessment.
    He needed significant dental work done which required general anesthesia. He had no current complaints.
    He had no recent illnesses. He had received all of his health supervision care including appropriate screenings for Down syndrome patients.
    There was a note on his chart indicating that the anesthesiologist wanted radiographs of his cervical spine prior to surgery.
    He had previous radiographs of his cervical spine which were negative 3 years ago, because he swims, runs track and high jumps in Special Olympics.
    The past medical history revealed duodenal atresia repair as an infant without subsequent complications.
    He also had one other surgery for dental repair at age 8. He had no problems with anesthesia with either surgery.
    He had no cardiac defects.
    The review of systems was negative.
    The pertinent physical exam revealed a happy male with facial characteristics consistent with Down syndrome. His growth parameters were 75-90% when using Down syndrome growth charts.
    HEENT was negative except for rampant dental caries. Lung, heart, abdomen examinations were negative. He was hypotonic and had full range of motion in his neck without eliciting any pain, numbness or tingling.
    The diagnosis of rampant dental caries requiring general anesthesia for repair, and no obvious contraindications to general anesthesia at that time was made.
    The pediatrician reviewed the guidelines from the American Academy of Pediatrics using the Internet which showed that one set of normal radiographs of the cervical spine was adequate and that another set was unnecessary.
    He also reviewed the requirements for Special Olympics participation. The pediatrician contacted the anesthesiologist who agreed that additional radiographs were unnecessary.
    Three days later the patient had successful dental surgery and tolerated the anesthesia without problems.

    Discussion
    Down syndrome is the most common autosomal chromosome abnormality and is caused by Trisomy 21.
    Problems that are particularly common in patients with Down syndrome include:

    • Cardiac – congenital heart disease (~40%)
      • Atrioventricular canal
      • Ventricular septal defects
    • Endocrine
      • Diabetes
      • Hypothyroidism
      • Hyperthroidism
    • Gastrointestinal
      • Duodenal atresia
      • Gastroesophageal reflux
      • Hirschsprung disease
    • Growth problems
    • Ophthalmologic
      • Congenital cataracts
      • Refractive errors
      • Strabismus
    • Infectious
      • Otitis media
      • Pneumonia
    • Oncologic
      • Leukemia
    • Orthopaedic
      • Atlantoaxial instability or subluxation
    • Pulmonary
      • Primary pulmonary hypertension
      • Obstructive sleep apnea
    • Neurological
      • Developmental delay
      • Hearing impairment
      • Hypotonia
      • Memory disfunction
      • Mental retardation
      • Seizures

    The atlantooccipital joint is formed by the occiput, C1 (atlas) and C2 (axis) and the strong ligaments surrounding them which allows movement of the head. The normal spacing between C1 and C2 is 3 millimeters in adults and 5 millimeters in children.
    In atlantoaxial instability, the spacing increases causing pressure from the bones onto the spinal cord which produces clinical symptoms of spinal cord compression. The most common abnormality in Down syndrome patients is to have excess laxity of the posterior transverse ligament (attaches the odontoid bone to C1) which increases the spacing.
    Atlantoaxial instability has been reported in 10-30% of patients with Down syndrome.

    Learning Point
    Longitudinal studies of patients with Down syndrome show a high degree of stability both radiographically and clinically. Therefore, serial radiographs are not recommended unless there is another clinical indication to perform the radiographs.

    The American Academy of Pediatrics recommends one set of screening radiographs at ages 3-5 years. The Academy notes that “The need for these studies has been questioned, but they may be required for participation in the Special Olympics. These studies are more important for children who may participate in contact sports and are indicated in those who are symptomatic.”Special Olympics places a restriction on athletes in certain sports at risk for neck injury until one set of cervical radiographs are shown to be negative.

    Lateral radiographs of the cervical spine when performed, are obtained in the flexion, extension and neutral positions.

    Questions for Further Discussion
    1. Describe the phenotypic pattern of Down syndrome?
    2. What is the current guidelines for prenatal evaluation for Down syndrome?
    3. What are the eligibility requirements for Special Olympics participation?

    Related Cases

    To Learn More
    To view pediatric review articles on this topic from the past year check PubMed.

    Information prescriptions for patients can be found at MedlinePlus for this topic: Down syndrome

    and at Pediatric Common Questions, Quick Answers for this topic: Down syndrome.

    To view current news articles on this topic check Google News.

    To view images related to this topic check Google Images.

    Special Olympics. Participation by Individuals with Down syndrome Who Have Atlantoaxial Instability. Available from the Internet at: http://www.specialolympics.org/special+olympics+public+website/english/coach/coaching_guides/basics+of+
    special+olympics/down+syndrome+and+restrictions+based+on+atlantoaxial+instability.htm (cited 6/14/07).

    American Academy of Pediatrics. Health Supervision for Children with Down syndrome. Pediatrics . 2001:107(Feb.) Available from the Internet at: http://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/2/442.pdf (rev. 02/2001, cited 6/14/2007).

    Rudolph CD, et.al. Rudolph’s Pediatrics. 21st edit. McGraw-Hill, New York, NY. 2003:732-734.

    Alvarez, N. Atlantoaxial Instability in Individuals with Down syndrome. eMedicine.
    Available from the Internet at http://www.emedicine.com/neuro/topic554.htm (rev. 10/11/2006, cited 6/14/2007).

    ACGME Competencies Highlighted by Case

  • Patient Care
    1. When interacting with patients and their families, the health care professional communicates effectively and demonstrates caring and respectful behaviors.
    2. Essential and accurate information about the patients’ is gathered.
    3. Informed decisions about diagnostic and therapeutic interventions based on patient information and preferences, up-to-date scientific evidence, and clinical judgment is made.
    4. Patient management plans are developed and carried out.
    5. Patients and their families are counseled and educated.
    6. Information technology to support patient care decisions and patient education is used.
    8. Health care services aimed at preventing health problems or maintaining health are provided.
    9. Patient-focused care is provided by working with health care professionals, including those from other disciplines.

  • Medical Knowledge
    10. An investigatory and analytic thinking approach to the clinical situation is demonstrated.
    11. Basic and clinically supportive sciences appropriate to their discipline are known and applied.

  • Practice Based Learning and Improvement
    12. Evidence from scientific studies related to the patients’ health problems is located, appraised and assimilated.
    13. Information about other populations of patients, especially the larger population from which this patient is drawn, is obtained and used.
    15. Information technology to manage information, access on-line medical information and support the healthcare professional’s own education is used.

  • Professionalism
    20. Respect, compassion, and integrity; a responsiveness to the needs of patients and society that supercedes self-interest; accountability to patients, society, and the profession; and a commitment to excellence and on-going professional development are demonstrated.
    22. Sensitivity and responsiveness to patients’ culture, age, gender, and disabilities are demonstrated.

  • Systems Based Practice
    23. Differing types of medical practice and delivery systems including methods of controlling health care costs and allocating resources are known.
    24. Cost-effective health care and resource allocation that does not compromise quality of care is practiced.
    25. Quality patient care and assisting patients in dealing with system complexities is advocated.
    26. Partnering with health care managers and health care providers to assess, coordinate, and improve health care and how these activities can affect system performance are known.

    Author
    Donna M. D’Alessandro, MD
    Professor of Pediatrics, Children’s Hospital of Iowa

    Date
    August 6, 2007