Is It More Than Just Another Ear Infection?
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Transcript of Is It More Than Just Another Ear Infection?
Is It More Than Just Another Ear Infection?
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QUIZ STARTOVER
GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
PATIENT HISTORYA 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 patient’s 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 patient’s 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.
At 5 Years
Same boy at 8 Years
Photos (left and right) from the Shire Human Genetic Therapies library of images.
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
HEENTSigns/symptoms are nonspecific, and not all patients present with each sign/symptom. Look for a cluster of signs/symptoms from the following:
Head:1 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-Hill;2001:3421; 2Ashworth J, et al. Surv Opthalmol 2006;51(1):1-17. 3Morehead JM, et al. Int J PedIatri Otorhinolaryngol 1993;26:255-261. 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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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
EXTREMITIESJoints of fingers, arms, and legs may be held in partial flexion,1 resulting in “claw-like” hands2
1Finlayson. Pediatr Dermatol. 1990;7:150; 2Young & Harper. Arch Dis Child. 1982;57:828. 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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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
MUSCULOSKELETALPatients 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-Hill;2001:3421. 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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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
ABDOMENHunter 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. 1990;7:150. Photo courtesy of Joseph Muenzer, MD, PhD, Chapel Hill, NC.
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
CLINICAL EXAMINATION SUMMARYIn patients with recurrent head and neck conditions, think Face-Tongue-Hands.
1. Face: “coarse” facial features—thick lips, thick nostrils
2. Tongue: large
3. 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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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
GENETICISTSA 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.
1. To learn about testing for Hunter syndrome, go to www.genetests.org.
2. 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.
3. For more information on genetic counselor resources, go to the National Society of Genetic Counselors Web site, www.nsgc.org.
4. To learn more about Hunter syndrome, go to HunterPatients.com.
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
TRUE or FALSE
Patients with Hunter syndrome commonly have frequent ear infections?
True
False
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
True
False
Incorrect.
Please try again.
TRUE or FALSE
Patients with Hunter syndrome commonly have frequent ear infections?
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
True
False
Correct.
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TRUE or FALSE
Patients with Hunter syndrome commonly have frequent ear infections?
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
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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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
B. Thick lips
C. Enlarged tongue
D. All of the above
Yes, but that’s not all.
Please try again.
MULTIPLE CHOICE
Facial features of a patient with Hunter syndrome are often described as “coarse” and may include
A. Thick nostrils
QUIZ STARTOVER
GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Thick nostrils
B. Thick lips
C. Enlarged tongue
D. All of the above
Correct.
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MULTIPLE CHOICE
Facial features of a patient with Hunter syndrome are often described as “coarse” and may include
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Atrophied
B. Enlarged
C. Unremarkable
D. Inflamed
MULTIPLE CHOICE
The tongues of patients with Hunter syndrome are typically
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Atrophied
B. Enlarged
C. Unremarkable
D. Inflamed
Incorrect.
Please try again.
MULTIPLE CHOICE
The tongues of patients with Hunter syndrome are typically
QUIZ STARTOVER
GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Atrophied
B. Enlarged
C. Unremarkable
D. Inflamed
Correct. Patients with Hunter syndrome often have an enlarged tongue.
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MULTIPLE CHOICE
The tongues of patients with Hunter syndrome are typically
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Pale, brittle, spoon-shaped nails
B. Clubbed fingernails
C. Claw-like appearance
D. None of the above
MULTIPLE CHOICE
The hands of patients with Hunter syndrome often show
QUIZ STARTOVER
GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Pale, brittle, spoon-shaped nails
B. Clubbed fingernails
C. Claw-like appearance
D. None of the above
Incorrect.
Please try again.
MULTIPLE CHOICE
The hands of patients with Hunter syndrome often show
QUIZ STARTOVER
GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Pale, brittle, spoon-shaped nails
B. Clubbed fingernails
C. Claw-like appearance
D. None of the above
Correct. Hunter syndrome patients often have claw-like hands.
Next >><< Previous
MULTIPLE CHOICE
The hands of patients with Hunter syndrome often show
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
B. Face-eyes-hands
C. Ears-eyes-throat
D. None of the above
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
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GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
C. Ears-eyes-throat
D. None of the above
MULTIPLE CHOICE
In a patient with recurrent ear infections, what quick screen can help identify a potential case of Hunter syndrome?
B. Face-eyes-hands
A. Face-tongue-hands
Incorrect.
Please try again.
QUIZ STARTOVER
GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
A. Face-tongue-hands
B. Face-eyes-hands
C. Ears-eyes-throat
D. None of the above
Correct. Coarse facial features, enlarged tongue, and claw-like hands are key features of Hunter syndrome.
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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?
QUIZ STARTOVER
GENETICISTSCLINICAL EXAMINATION
SUMMARYABDOMENMUSCULOSKELETALEXTREMITIESHEENT
PATIENTHISTORY
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