Is It More Than Just Another Ear Infection?

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Is It More Than Just Another Ear Infection?
Click to Begin
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At 5 Years
PATIENT HISTORY A 5-year-old boy relocates to a
new area. He is shorter (3 2) and lighter (32
lbs) than other boys of the same age. The
patients new pediatrician notes the presence of
ear tubes and, over the next year, treats the
patient for several ear infections. The patient
is referred to a pediatric otolaryngologist for
evaluation. The patients history, combined
with a distinctive cluster of physical features,
suggests a rare disorder (Hunter syndrome)
warranting a referral to a geneticist. Click
the buttons at the top of the screen to learn
about key features of this treatable disorder.
Same boy at 8 Years
Photos (left and right) from the Shire Human
Genetic Therapies library of images.
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• HEENT
• Signs/symptoms are nonspecific, and not all
  patients present with each sign/symptom. Look
  for a cluster of signs/symptoms from the
  following
• Head1 Large
• Prominent forehead
• Flattened bridge of nose
• Coarse facial features
• Thick nostrils, lips, eyebrows
• Large tongue
• Ears Chronic ear infections1
• Eyes Negative2
• Nose Chronic rhinorrhea1
• Throat
• Enlarged tonsils/adenoids1
• Airway obstruction1
• Stridor, wheezing3

1Neufeld Muenzer. In The metabolic and
molecular bases of inherited disease.
McGraw-Hill20013421 2Ashworth J, et al. Surv
Opthalmol 200651(1)1-17. 3Morehead JM, et al.
Int J PedIatri Otorhinolaryngol 199326255-261.
Photos (top left, top right, bottom left) from
the Shire Human Genetic Therapies library of
images. Photo (bottom right) courtesy of Joseph
Muenzer, MD, PhD, Chapel Hill, NC.
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EXTREMITIES Joints of fingers, arms, and legs may
be held in partial flexion,1 resulting in
claw-like hands2
1Finlayson. Pediatr Dermatol. 19907150 2Young
Harper. Arch Dis Child. 198257828. Photo
(left) from the Shire Human Genetic Therapies
library of images. Photo (right) courtesy of
Joseph Muenzer, MD, PhD, Chapel Hill, NC.
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MUSCULOSKELETAL Patients with Hunter syndrome
have short stature, skeletal deformities, joint
stiffness, and limited range of motion.1 As a
result of skeletal deformities and joint
stiffness, the patient may have an altered gait.
1Neufeld Muenzer. In The metabolic and
molecular bases of inherited disease.
McGraw-Hill20013421. Photo (left) from the
Shire Human Genetic Therapies library of images.
Photo (right) courtesy of Joseph Muenzer, MD,
PhD, Chapel Hill, NC.
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ABDOMEN Hunter syndrome patients may have an
enlarged abdomen due to hepatosplenomegaly.1
This can sometimes be seen visually but will be
evident on palpation and percussion. Umbilical
or inguinal hernias are common.1
1Finlayson. Pediatr Dermatol. 19907150. Photo
courtesy of Joseph Muenzer, MD, PhD, Chapel Hill,
NC.
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• CLINICAL EXAMINATION SUMMARY
• In patients with recurrent head and neck
  conditions, think Face-Tongue-Hands.
• Face coarse facial featuresthick lips, thick
  nostrils
• Tongue large
• Hands claw-like joints of fingers (as well as
  arms, legs) in constant state of partial flexion
• If any of these cardinal features is present,
  and in particular if all 3 are present, refer the
  patient urgently to a medical geneticist for a
  definitive diagnosis and appropriate care and
  counseling.
• Also look for
• Frequent ear infections
• Chronic runny nose
• Hepatosplenomegaly
• Limited range of motion/abnormal gait
• Airway obstruction
• Be the first to recognize Hunter syndrome!

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• GENETICISTS
• A urine test can be used to quickly screen for
  potential Hunter syndrome, and a definitive
  diagnosis can be made by a medical geneticist
  using a simple blood test that identifies the
  enzyme deficiency of Hunter syndrome (lack of
  iduronate-2-sulfatase). Faster diagnosis means
  patients get the care they need faster.
• To learn about testing for Hunter syndrome, go to
  www.genetests.org.
• To find a geneticist in your area, go to the
  American College of Medical Genetics Web site,
  www.acmg.net. This Web site has a searchable
  member database.
• For more information on genetic counselor
  resources, go to the National Society of Genetic
  Counselors Web site, www.nsgc.org.
• To learn more about Hunter syndrome, go to
  HunterPatients.com.

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TRUE or FALSE Patients with Hunter syndrome
commonly have frequent ear infections?
True
False
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TRUE or FALSE Patients with Hunter syndrome
commonly have frequent ear infections?
True
Incorrect. Please try again.
False
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TRUE or FALSE Patients with Hunter syndrome
commonly have frequent ear infections?
Correct.
True
False
Next gtgt
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MULTIPLE CHOICE Facial features of a patient
with Hunter syndrome are often described as
coarse and may include
A. Thick nostrils
B. Thick lips
C. Enlarged tongue
D. All of the above
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MULTIPLE CHOICE Facial features of a patient
with Hunter syndrome are often described as
coarse and may include
A. Thick nostrils
Yes, but thats not all. Please try again.
B. Thick lips
C. Enlarged tongue
D. All of the above
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MULTIPLE CHOICE Facial features of a patient
with Hunter syndrome are often described as
coarse and may include
A. Thick nostrils
B. Thick lips
Correct.
C. Enlarged tongue
Next gtgt
ltlt Previous
D. All of the above
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MULTIPLE CHOICE The tongues of patients with
Hunter syndrome are typically
A. Atrophied
B. Enlarged
C. Unremarkable
D. Inflamed
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MULTIPLE CHOICE The tongues of patients with
Hunter syndrome are typically
A. Atrophied
Incorrect. Please try again.
B. Enlarged
C. Unremarkable
D. Inflamed
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MULTIPLE CHOICE The tongues of patients with
Hunter syndrome are typically
A. Atrophied
Correct. Patients with Hunter syndrome often have
an enlarged tongue.
B. Enlarged
C. Unremarkable
Next gtgt
ltlt Previous
D. Inflamed
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MULTIPLE CHOICE The hands of patients with
Hunter syndrome often show
A. Pale, brittle, spoon-shaped nails
B. Clubbed fingernails
C. Claw-like appearance
D. None of the above
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MULTIPLE CHOICE The hands of patients with
Hunter syndrome often show
A. Pale, brittle, spoon-shaped nails
Incorrect. Please try again.
B. Clubbed fingernails
C. Claw-like appearance
D. None of the above
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MULTIPLE CHOICE The hands of patients with
Hunter syndrome often show
A. Pale, brittle, spoon-shaped nails
Correct. Hunter syndrome patients often have
claw-like hands.
B. Clubbed fingernails
C. Claw-like appearance
Next gtgt
ltlt Previous
D. None of the above
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MULTIPLE CHOICE In a patient with recurrent
ear infections, what quick screen can help
identify a potential case of Hunter syndrome?
A. Face-tongue-hands
B. Face-eyes-hands
C. Ears-eyes-throat
D. None of the above
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MULTIPLE CHOICE In a patient with recurrent
ear infections, what quick screen can help
identify a potential case of Hunter syndrome?
A. Face-tongue-hands
Incorrect. Please try again.
B. Face-eyes-hands
C. Ears-eyes-throat
D. None of the above
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MULTIPLE CHOICE In a patient with recurrent
ear infections, what quick screen can help
identify a potential case of Hunter syndrome?
A. Face-tongue-hands
Correct. Coarse facial features, enlarged tongue,
and claw-like hands are key features of Hunter
syndrome.
B. Face-eyes-hands
C. Ears-eyes-throat
Next gtgt
ltlt Previous
D. None of the above
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THANK YOU Thank you for participating in this
educational activity.