Given these changes from the original case, what is your diagnosis?
What is your diagnostic explanation?
As compared to the long case, this patient is a 9 year old African American male presents to the ER reporting chest pain. He is accompanied by his mother. The patient is in severe pain and unable to communicate effectively. The history is obtained from his mother. The patient began experiencing chest pain 2 hours prior to presentation. He reported the pain as centrally located and 10/10 on a pain scale. The pain was described as sharp and stabbing. The pain becomes worse if the patient moves or if he is touched. The patient also reported pain in his extremities. The mother reports that her son has never experienced symptoms similar to this previously. She reports that her son was born healthy at 38 weeks gestation. There were no complications during pregnancy or birth. The mother does not have any medical conditions. The mother reports that she has a brother that was diagnosed with a “blood condition,” but she is unsure of the exact diagnosis. The mother is unsure of the father’s medical history.
Maternal uncle with unknown blood condition.
Social HX –
No environmental exposure to tobacco smoke or environmental hazards.
Physical Exam –
General: Male patient appearance consistent with age. Patient is in moderate distress due to shortness of breath and chest pain. Patient is restless and unable to become comfortable during interview and exam.
Vital Signs: BP:120/80, P:110, RR:24, BMI:22, T:99
Respiratory: Patient takes rapid breaths. Vesicular breath sounds present bilaterally. No wheezes, rales, or rhonchi present.
Cardiovascular: Tachycardia. Regular rhythm. S1 and S2 of normal intensity. No murmurs, rubs, or gallops.
Extremities/Musculoskeletal: Chest pain reproducible on exam. Patient reports pain upon palpation and movement of extremities. Full ROM. No weakness noted.
CBC: microcytic anemia
Blood smear: sickled cells with Howell-Jolly bodies
Hemoglobin electrophoresis: mother with sickle cell trait (AS); patient with homozygous sickle cell disease (SS)