Is It More Than Just Another Ear Infection?

Is It More Than Just Another Ear Infection?

Click to Begin

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.

QUIZ STARTOVER



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.

QUIZ STARTOVER



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.

QUIZ STARTOVER



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.

QUIZ STARTOVER



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.

QUIZ STARTOVER



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!

QUIZ STARTOVER



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.

QUIZ STARTOVER



PATIENTHISTORY

TRUE or FALSE

Patients with Hunter syndrome commonly have frequent ear infections?

True

False

QUIZ STARTOVER



PATIENTHISTORY

True

False

Incorrect.

Please try again.

TRUE or FALSE


QUIZ STARTOVER



PATIENTHISTORY

True

False

Correct.

Next >>

TRUE or FALSE


QUIZ STARTOVER



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

QUIZ STARTOVER



PATIENTHISTORY

B. Thick lips

C. Enlarged tongue

D. All of the above

Yes, but that’s not all.

Please try again.

MULTIPLE CHOICE


A. Thick nostrils

QUIZ STARTOVER



PATIENTHISTORY

A. Thick nostrils

B. Thick lips

C. Enlarged tongue

D. All of the above

Correct.

Next >><< Previous

MULTIPLE CHOICE


QUIZ STARTOVER



PATIENTHISTORY

A. Atrophied

B. Enlarged

C. Unremarkable

D. Inflamed

MULTIPLE CHOICE

The tongues of patients with Hunter syndrome are typically

QUIZ STARTOVER



PATIENTHISTORY

A. Atrophied

B. Enlarged

C. Unremarkable

D. Inflamed

Incorrect.

Please try again.

MULTIPLE CHOICE


QUIZ STARTOVER



PATIENTHISTORY

A. Atrophied

B. Enlarged

C. Unremarkable

D. Inflamed

Correct. Patients with Hunter syndrome often have an enlarged tongue.

Next >><< Previous

MULTIPLE CHOICE


QUIZ STARTOVER



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



PATIENTHISTORY





Incorrect.

Please try again.

MULTIPLE CHOICE


QUIZ STARTOVER



PATIENTHISTORY





Correct. Hunter syndrome patients often have claw-like hands.

Next >><< Previous

MULTIPLE CHOICE


QUIZ STARTOVER



PATIENTHISTORY

B. Face-eyes-hands

C. Ears-eyes-throat


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

QUIZ STARTOVER



PATIENTHISTORY

C. Ears-eyes-throat


MULTIPLE CHOICE


B. Face-eyes-hands


Incorrect.

Please try again.

QUIZ STARTOVER



PATIENTHISTORY


B. Face-eyes-hands

C. Ears-eyes-throat


Correct. Coarse facial features, enlarged tongue, and claw-like hands are key features of Hunter syndrome.

Next >><< Previous

MULTIPLE CHOICE


QUIZ STARTOVER



PATIENTHISTORY

THANK YOU

Thank you for participating in this educational activity.

Documents

Is It More Than Just Another Ear Infection?