Hematology
This disease presents as follows
A 4 year old presents with severe pain in both legs. No history of trauma. CBC shows hemoglobin of 8 and elevated reticulocytes. His mother often presents to the hospital with similar symptoms.
What is sickle cell disease.
This disease presents as follows:
A newborn with no prenatal care has upslanted palpebral fissures and epicanthal folds. You hear a systolic murmur. He has not passed meconium.
What is Trisomy 21 (Down Syndrome)?
This disease presents as follows:
A 10 year old presents with severe abdominal pain and vomiting. Pain started generalized and has since radiated to the right lower quatrant. Abdomen is tender and rigid.
What is acute appendicitis?
A teenage girl comes in after intentional ingestion of many pills. She is vomiting. Parents report that they keep no prescription medications in the house.
After labs, she is started on N-Acetyl Cysteine to treat overdose of this medication.
What is Acetaminophen
This disease presents as follows:
A 5 year old presents with vomiting and difficulty breathing. He was at a birthday party when symptoms started. Blood pressure is 70/40. He has stridor.
What is anaphylactic shock?
This disease presents as follows:
A 4 year old girl, no medical history, presents with bruising and petechiae all over her body. No history of trauma. CBC shows platelets of 15.
What is Immune Thrombocytopenia Purpura?
This disease presents as follows:
An infant is noted to have macrocephaly, frontal bossing, and midface hypoplasia. His father has dwarfism.
What is achondroplasia?
This disease presents as follows:
A 14 year old girl presents with abdominal pain and fever. She ate a burger before her pain started. She has pain in her right upper quadrant. Labs show elevated bilirubin.
What is acute cholecystitis?
A 3 year old presents with lethargy. He is very tired and cannot be awoken. No head trauma. He is mildly tachycardic. Parents report they keep no meds in the house. He may have found some candy that the parents keep in the house, which contains this substance.
What is cannabis?
This disease presents as follows:
A 4 month old presents with failure to thrive and fever. You note he has had multiple infections since birth. Labs show low B and T cells.
What is severe combined immunodeficiency?
This disease presents as follows:
An 8 day old male presents due to continued bleeding following a circumcision. Family history includes an uncle with a bleeding disorder.
Labs show normal platelets, elevated PTT, normal PT.
What is Hemophilia?
A 3 year old has autism and developmental delay. You note failure to thrive. He has downward slanting palpebral fissures and epicanthal folds. Echocardiogram shows pulmonic stenosis.
What is Noonan Syndrome?
This disease presents as follows:
A 17 year old girl presents with a lesion on her gluteal cleft. It is red, swollen, and painful. Ultrasound shows drainable fluid.
What is a pilonidal abscess?
A 16 year old presents unresponsive. He has shallow respirations at a rate of 5 per minute. Pupils are pinpoint. You suspect that he overdosed on this class of drugs.
What are opiates?
This disease presents as follows:
A 15 year old girl presents with fever and pain in multiple joints. She has lost weight over the past few months. You note a facial rash. Labs show elevated ANA and DsDNA.
What is systemic lupus erythematosus?
This disease presents as follows
A 7 year old presents with a fever. Medical records show frequent infections in the past month. He has bruising on his body. CBC shows WBCs of 2, Hb of 7, and Plt of 20. Smear shows elevated blasts.
What is acute lymphoblastic leukemia?
A 6 year old presents with fever. He has had multiple presentations for fever. He also has abdominal pain and joint pain. His mother has had similar symptoms in the past. Parents tell you they are Egyptian American.
What is Familial Mediterranean Fever?
This disease presents as follows
An 8 year old with autism presents with vomiting. has no fever or diarrhea. Abdomen is distended. Her father reports she frequently eats her own hair.
What is a bezoar?
A 13 year old presents with a new onset seizure. He is lethargic and vomiting. He is bradycardic. Fingerstick shows glucose of 40. BMP shows bicarb of 14 and anion gap of 22. Parents keep no prescription medications at home. You suspect he overdosed on this substance:
What is ethanol?
A 4 year old presents with diarrhea. You note that he has multiple presentations for pneumonia. CBC is not remarkable. Further workup shows undetectable IgA.
What is selective IgA deficiency?
This disease presents as follows:
A 3 year old presents with a fever. CBC shows low neutrophils. He has a history of frequent infections, and has had low neutrophils in the past. Between illnesses he is healthy. Hb and platelets are normal.
What is cyclic neutropenia?
This disease presents as follows:
A 4 year old presents with pneumonia. She has had multiple episodes of pneumonia. She has a history of meconium ileus in infancy. You note she has failure to thrive.
What is cystic fibrosis?
This disease presents as follows:
An 11 year old, admitted with pneumonia is getting worse. She is hypoxemic and is not improving on antibiotics. An ultrasound of the chest shows a pleural effusion with loculations and debris.
What is empyema?
A 6 year old presents with altered mental status. He is lethargic. Skin is red and dry. SPO2 is 100%. His parents and siblings have also been brought to the emergency room for similar symptoms. You suspect this has been caused by this substance:
What is carbon monoxide?
What is Acute Hemolytic Transfusion Reaction?