Is It More Than Just Another Ear Infection?

1. Is It More Than Just Another Ear Infection? Click to Begin

2. 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 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. Same boy at 8 Years Photos (left and right) from the Shire Human Genetic Therapies library of images.

3. HEENT Signs/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.

4. EXTREMITIES Joints 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.

5. 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-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.

6. 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. 1990;7:150. Photo courtesy of Joseph Muenzer, MD, PhD, Chapel Hill, NC.

7. CLINICAL EXAMINATION SUMMARY In patients with recurrent head and neck conditions, think Face-Tongue-Hands. • Face: “coarse” facial features—thick 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!

8. 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.

9. TRUE or FALSE Patients with Hunter syndrome commonly have frequent ear infections? True False

10. TRUE or FALSE Patients with Hunter syndrome commonly have frequent ear infections? True Incorrect. Please try again. False

11. TRUE or FALSE Patients with Hunter syndrome commonly have frequent ear infections? Correct. True False Next >>

12. 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

13. MULTIPLE CHOICE Facial features of a patient with Hunter syndrome are often described as “coarse” and may include A. Thick nostrils Yes, but that’s not all. Please try again. B. Thick lips C. Enlarged tongue D. All of the above

14. 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 << Previous Next >> D. All of the above

15. MULTIPLE CHOICE The tongues of patients with Hunter syndrome are typically A. Atrophied B. Enlarged C. Unremarkable D. Inflamed

16. MULTIPLE CHOICE The tongues of patients with Hunter syndrome are typically A. Atrophied Incorrect. Please try again. B. Enlarged C. Unremarkable D. Inflamed

17. 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 << Previous Next >> D. Inflamed

18. 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

19. 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

20. 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 << Previous Next >> D. None of the above

21. 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

22. 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

23. 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 << Previous Next >> D. None of the above

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