A 3-year-old child was rushed into the emergency room wearing very thick eyeglasses that looked like sunglasses. The child was crying and screaming. His skin looked extremely pale, and his pants were full of blood, especially on his right leg. The mother complained that when she gave her son baby aspirin to reduce the pain, the bleeding would not stop and got worse. When the physician took off the child’s pants, he saw that both legs had ecchymoses and the right leg had a large cut in the back of his leg. The mother told the doctor that her son was running around in the garage and accidentally hit the wall where a nail was sticking out. The physician saw the cut and it was not too deep, it missed the vein and arteries. After the physical examination, he saw a few bruises in the child’s back. The child had a history of bleeding problems such as nose bleeds and getting bruised easily. The boy also had a family history of albinism. When the child took off his glasses, the physician noticed that the boy was cross-eyed, had nystagmus (involuntary movement of the eyes), sensitive to light, and had astigmatism. The physician drew the child’s blood and sent it to the lab for testing. Test Result Reference Value WBC 7,000/cmm 5,000-10,000/cmm RBC 4.3 x 103/cmm 4.1-5.5 x106/cmm HGB 13 g/dl 12-16 g/dl HCT 38% 37-47% MCV 95 fl 80-100 fl MCH 29 pg 27-32 pg MCHC 33% 32-36% PLT 325 x 103/cmm 150-400 x 103/cmm Differential: Test Result Reference Value Segs 42% 40-60% Bands 2% 0-5% Lymphs 23% 20-40% Monos 5% 4-8% Eos 1% 1-3% Basos 0% 0-1% Retics 1.5% 0.5-2.0% Peripheral Blood Smear: normocytic, normochromic with slight anisocytosis. There appears to be many platelet aggregates. Test Result Reference value. PT 13.5 sec 12-14 sec INR 1.55 APTT 25 sec 22-32 sec Please answer the questions below: 1. List all the significant findings of this case (both in the clinical presentation and in the laboratory values) and explain why they are significant. There are at least 5 in each category (clinical presentation and laboratory values). 2. Based on the clinical and laboratory presentation of this case, what diseases are you suspecting. Name at least 2 disorders that you suspect. 3. What lab tests would you run to confirm one disorder and rule out the rest of the suspecting disorders? 4. Predict the laboratory values on the confirmatory tests that will support your final diagnosis? 5. What is your final diagnosis? 6. Propose a pathophysiologic mechanism of this disease that produced the provided results.
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[Answered]: A 3-year-old child was rushed into the…