Question

Zool 3303 Pathophysiology

Mystery Disease

Context

John is 14 years old white male. He’s taken to the doctor’s office by his mother. He tried to play baseball at 10 years old but his coordination was not good, he gets tired very quickly, and his leg muscle aches. . He has been growing very fast over the last year or so, and he was wearing size 12 shoe, but without putting on muscle weight like his brother did at that age. Furthermore, his knee joints have been swelling and he has a perpetual sore on his right calf that won’t heal. He has also been complaining that he doesn’t feel good.

Patient responses and pertinent information (DO NOT ADD YOUR OWN)

How you are feeling. I have been feeling really tired and rundown. It has been hard to concentrate on my homework or have the energy to do anything. I feel like, numb, about stuff.

How long have your knees been hurting? 2-3 months on and off

What have you been doing for the pain and swelling? Mom gives me ibuprofen

ASSESSMENT:

VS: BP 130/82, PULSE 76, RR 16, T 98.4F, WEIGHT 145 lb, HEIGHT 5’11”

General: 14 y.o. tall, thin, Caucasian male, alert and oriented x3 (A&O x3), low level distress.

HEENT (head, eyes, ears, nose, throat): Normocephalic without evidence of trauma, PEERL (Pupils equal and reactive to light), mucous membranes pink and moist.

Neck supple w/out lymphadenopathy (swollen lymph nodes), thyromegaly (goiter or enlarged thyroid) or carotid bruits (noisy carotid pulse).

LUNGS: Clear to auscultation bilaterally throughout (CTA)

Heart murmur identified.

Questions

Please take your time answering these 6 questions below by proving as much details as possible!!!!!!!!!

Knowing this information, what 5 other specific questions would you ask? (5 points)

Remember to frame the questions correctly. For example – if it is a minor, many of the questions should be addressed to the parents.

A) Section 2 Labs (2 parts): Part 1 - (10 pts) This explains how you will continue your work-up with other commonly applied tests. You need to describe specifically what the tests will analyze and if there is anything in particular in that test that pertains to the situation.

Here YOU will provide the tests to be done that are routine, describe what they test for and include their normal range. You can use the example as a template. However, do not make up results. Just tell me what you will do, why and how.

Key Lab Results:

Testosterone: 4 ng/dL

Thyroid Hormone (free T3): 1 pg/mL

Growth Hormone: 26 ng/mL

       2.   B) - List your findings so far (10 points): (This is not because I want you to regurgitate what is already written. This is an important exercise because it forces you to go over in DETAIL all information in the case. Therefore, this section needs to be detailed because it is the subtleties between symptoms and the patient history that give you the important clues to correctly diagnose the patient. Also you want to correctly report these to the doctor so she/he has all the information in formulating an appropriate approach to treatment).

Diagnoses: Short list of possible ailments. 15 points.

What is your short list of 3 diagnoses with a rationale why you chose those. The rationale should show a direct relationship to the findings and ROS: (This should be the 3 best possibilities. You need to be in the ballpark. In other words, if it is a fungal infection in the lungs and you put viral or bacterial, then you will points off BECAUSE there will be important information that leads you to that possibility. If you state cancer as a possibility or maybe COPD, then you will NOT get points off even if you do not put the actual case diagnosis.)

Plan: Follow up tests/studies – 15 points

This section is important because you will chose THE MOST LIKELY DIAGNOSIS IN YOUR OPINION and follow up with that one diagnosis only. These tests should be specific in nature and allow you to determine whether or not the patient has that particular problem/disease. You should include information demonstrating you understand how the test is conducted, any principles behind it and predict what it will show. These tests can either be specific for the condition (if commercially available) or exclusive of other conditions (ruling the other stuff out).

Pathophysiology: 25 points. Even if your diagnosis is not the actual one, as long as you have a good explanation for the ONE you chose, you WILL GET FULL CREDIT. There are 4 criteria you should always address in this answer. 1) How does the disease/condition make the person feel sick, 2) what is a treatment for it, 3) how does the treatment work to counter the disease/condition, 4) how does it affect the patient’s symptoms. Remember this section alone is worth 25% of this part of the exam. So be as thorough as possible.

– Follow-up – 5 points

In this section, you describe different things you would look for and ask about in a follow up appointment with the patient. You will be responsible for determining how the patient is responding.

Answer 1

ANSWER 1) a. Do the child have sleep problems?

b. What changes in physical appearance have you noticed within one year?

c. Do you get tired only after activity or even at rest?

d. Do you find any difficulty with your vision ?

e. Does the pain in his leg is limited to any specific time of the day?

Answer 2) The various diagnostic examinations to be conducted are:

• Thyroid hormones : They will help to detect the abnormality with thyroid hormones. The study of thyroid hoermones are important as it helps to maintain the normal secretion of growth hormone in the body. The normal thyroid hormones are Free T3 =2.3-4.2 pg/ml, free T4 = 0.8-1.8 ng/dl, TSH= 0.3-5.0 U/ml. Here the boy have low T3 level of 1pg/ml.
• Testosterone: The testoterone and growth hormone together enhances growth of the body espicaially the bones. The normal testosterone level for children should be less than 7-1200. The blood level of testoterone for John is 4ng/dl which is normal.
• Growth hormone: The growth hormone test helps to detect the growth hormone deficiency or its excess.The normal growth hormone is 0.08-10.8 ng/ml in children. John have growth hormone of 26ng/ml which is relatively very high.
• Insulin like growth factor 1 (IGF-1): this is also called as somatomedin C which is a hormone similar to molecular structure of insulin. The production of this hormone is stimulated by growth hormone. It plays an important role in childhood growth and has an anabolic effects on adults. The normal level of IGF-1 is 374.1 ng/ml by age of 18.
• Xray of bone is mainly done to evaluate the bone age and growth.
• CT scan or MRI may be suggested to rule out any pituitary tumors.
• Oral glucose tolerance test: In normal body the growth hormone levels fall after taking glucose. If the glucose level remain the same in John, then it means his body is producing too much hormones.

ANSWER 3) The assessment reveals the following findings:

• Growth rate is fast within one year.
• No additional weight gain
• Swollen knee joints.
• Non healing sore on right calf
• Coordination problem
• Patient has history of taking ibuprofen as pain medication.
• Vital signs are found normal
• No signs of lumps or nodular enlargement is seen.
• Heart murmer is heard.

ANSWER 4) The three possible ailments that can be related with above clinical findings are:

• Gigantism: which is a disorder due to excessive growth hormones. These children have enlarged hands and feet. Gain height faster, fatigue and muscle weakness,pain and limited joint mobility.
• Thyroid disorder: Especially hypothyroidism in which there is decreased production of thyroid hormone by the thyroid gland. This disease may precipitate fatigue, muscle weakness, growth disturbances, painful joints
• Diabetes: Lack of insulin effect the arrangement of growth hormone which can be evidenced by non healing sore of right calf. The insulin affects the GHR sensitivity and the level of insulin like growth factor -1 thus influences the level of growth hormone.