Hunter Syndrome Case Studies
Can (John) Ficicioglu, MD, PhD, Assistant Professor of Pediatrics at the University of Pennsylvania, and Children’s Hospital of Philadelphia, has presented four real cases of Hunter syndrome, and shares many of the common signs and symptoms to recognize a patient with Hunter syndrome.
Case 1, William
Meet William. He is an adorable 4 year old with dark brown eyes and chubby cheeks. He suffers from chronic respiratory problems and has two other distinguishing characteristics: a head slightly larger than normal and Mongolian spots. Could these symptoms be related?
Case 2, Ryan
Ryan is a handsome 8 year old with beautiful eyes. Only his physician knows he has a heart murmur, but everyone can see that he is short for his age, has stiff joints, and walks on his toes. Isn’t Ryan a little young for cardiac problems and stiff joints?
Case 3, Ethan
Ethan’s curly hair gives him a sweet look that belies his overly aggressive behavior. At 6 years of age, Ethan is significantly overweight and has a pebble-like skin condition. Could Ethan’s disparate symptoms all be related somehow?
Case 4, Jim
29-year-old Jim suffers from the same condition as eight of his male relatives. He uses a BiPAP respirator, has thick skin, and has seizures and tachycardia. What’s going on with the males in Jim’s family?