A 30-month-old male toddler was admitted to the university hospital for investig

Question

A 30-month-old male toddler was admitted to the university hospital for investigation of a complex group of symptoms. The child and parents live four hours away from the hospital. The child was admitted so that the majority of the testing could be done at one time without repeated long trips back and forth to the hospital. The mother reported she noticed changes in the child's facial appearance starting about six months ago. She also noted a loss of previously acquired skills, including language, and observed new aggressive behavior. Upon examination, the doctor noted an enlarged liver and spleen with a distended abdomen and suspected there · were cardiovascular complications as well. A series of laboratory tests were performed and an extensive medical history was taken from both parents. The physicians concluded the patient had a type of inherited metabolic disorder called mucopolysaccharidosis (MPS), specifically type MPS IIA, also known as Hunter Syndrome. The patient's problem is his body's inability to produce specific enzymes to carry out essential functions. The parents were told there is no cure for Hunter Syndrome at this time and treatment focuses on managing signs and symptoms of the disease to provide relief to the child as the disease progresses. Known life-threatening complications include cardiovascular, respiratory , brain , and nervous system, in addition to skeletal and connective tissue problems. Because this condition is known to be an X-linked recessive disease, the mother of the child was tested for the mutated gene known to cause Hunter Syndrome. It was determined the mother was a carrier of this disease because she had the X-linked recessive disorder with the mutated gene located on one of her X chromosomes and the normal gene on the other. The mother is unaffected by the disease but can pass it on to children, most often to a son. The parents were told that enzyme replacement therapy and other emerging therapies may offer their son more help in the future. The family was given a follow-up appointment to return in three months for possible hematopoietic stem cell transplant planning. The family was also made aware of the National MPS Society that provides support for families and research support. What is the correct medical code for this problem? A 30-month-old male toddler was admitted to the university hospital for investigation of a complex group of symptoms. The child and parents live four hours away from the hospital. The child was admitted so that the majority of the testing could be done at one time without repeated long trips back and forth to the hospital. The mother reported she noticed changes in the child's facial appearance starting about six months ago. She also noted a loss of previously acquired skills, including language, and observed new aggressive behavior. Upon examination, the doctor noted an enlarged liver and spleen with a distended abdomen and suspected there · were cardiovascular complications as well. A series of laboratory tests were performed and an extensive medical history was taken from both parents. The physicians concluded the patient had a type of inherited metabolic disorder called mucopolysaccharidosis (MPS), specifically type MPS IIA, also known as Hunter Syndrome. The patient's problem is his body's inability to produce specific enzymes to carry out essential functions. The parents were told there is no cure for Hunter Syndrome at this time and treatment focuses on managing signs and symptoms of the disease to provide relief to the child as the disease progresses. Known life-threatening complications include cardiovascular, respiratory , brain , and nervous system, in addition to skeletal and connective tissue problems. Because this condition is known to be an X-linked recessive disease, the mother of the child was tested for the mutated gene known to cause Hunter Syndrome. It was determined the mother was a carrier of this disease because she had the X-linked recessive disorder with the mutated gene located on one of her X chromosomes and the normal gene on the other. The mother is unaffected by the disease but can pass it on to children, most often to a son. The parents were told that enzyme replacement therapy and other emerging therapies may offer their son more help in the future. The family was given a follow-up appointment to return in three months for possible hematopoietic stem cell transplant planning. The family was also made aware of the National MPS Society that provides support for families and research support. What is the correct medical code for this problem?

Explanation / Answer

As told there is no cure fpr these disorders. Although one may look at the systemic conditions, do physical therapy and exercise to improve joint problems. Enzyme replacement therapy (for lysosomal enzymes that can degrade the susbtrate) can reduce pain and improving non neurological symptoms which in near future may or may not work out fine. Hematopoeitic stem cell transplantation can be perfomed although success rate is low. However, parents may be counselled well before performing this kind of tranplantation that may improve physical characterstics but neurological symptoms may not be normal. The decision lies in parents along with few doctors who can counsel and evaluate the parents as to what kind of treatment is suitable for the toddler.

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