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Sanfilippo Syndrome Type A

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Anthony Hudson 09/24/02/ 8:00a.m. (MPS3)Sanfilippo Syndrome Type A 11-year-old white male patient brought in by mother and father who confirm with Documentation, he was diagnosed at age five with Sanfilippo Syndrome Type A. PARENTS INFORMED: He requires total assistance with daily living skills...i.e.: bathing, dressing, and hand feed him. Tony only sleeps about 3 hours per night; Tony will sit up and bounce on his bed or wander about in his bedroom at night, and will frequently bang on his bedroom window and does hurt him self. At night his head is not protected from injury because he cannot wear his helmet at night due to the strap could choke him. ...read more.


RECORDS SHOW: Allergy alert to Zithromax. Test results confirm he has low blood sugar reading of 76. She assisted him in drinking orange juice from a sipper cup that a toddler would use. He is also severely deaf in both ears from having lots of ear infections and due to his disease; he was prescribed hearing aids and currently uses them. Deafness is contributed to the impaired sensory signal that goes from the ear to the brain that is reported to be about three second delay. He has slight hip dyplasia, which is progressively getting worse due to degenerativeness of disorder. PHYSICAL EXAM/OBSERVATION: He is currently walking inward and on his toes, which I have seen him, trip over his own two feet in the course of this visit. ...read more.


He wears a hard-shelled helmet with a face guard on it during the day to stop head injuries, and face injuries. I notice an observe while mom changes diaper he also is incontinent and wears special diapers, and needs hypoallergenic wipes and creams to stop major skin rashes from occurring. Mom states, "because of the Stevens Johnson's episode he now has extremely sensitive skin to the sun and soap products, which requires him to use special soap to prevent skin break down. "He drools and chews on his fingers excessively and wears a bib. This child does not talk he vocalizes unrecognizable babbles, whines and utterances but mom seems to communicate with him in there own little way by eye contact and lip reading. This consultation lasted 11/2 hours long. Theresa Hinkelman R.N. ...read more.

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