child with the history of repeated infections, failure to thrive and anemia. His older brother also has same condition. What is the most likely diagnosis?
A. Nutritional anemia
Answer: D ?
Repeated infection, failure to thrive, anemia and family history of same condition make hemoglobinopathy the best answer.
During delivery, when the doctor cut the umbilical cord, bleeding doesn’t stop. Which of the following factors is deficient in this case?
A. Factor x
B. Factor xi
C. Factor xii
D. Factor xiii
The bleeding diathesis in inherited factor xiii deficiency is severe in most patients. Bleeding from the stump of the umbilical cord within the first days to weeks of life is a characteristic sign.
6 year old child with fever, malaise, lymphadenopathy and hepatosplenomegaly. Shown is the cbc and bone marrow aspiration slide. What is the most likely diagnosis?
A. Sickle sequestration.
The diagnosis of acute lymphoblastic leukemia (all) is made when at least 30% lymphoblasts or 20% lymphoblasts are present in the bone marrow and/or peripheral blood.
slides should be stained with myeloperoxidase (MPO) (or Sudan black) and terminal deoxynucleotidyl transferase (TdT), unless another method is used, such as flow cytometry.
Bone marrow samples should also be sent for flow cytometry and cytogenetics
Approximately 15% of patients with ALL have a t(9;22) translocation (i.e, philadelphia [ph] chromosome).
Neonate with physiological jaundice her parent brought the baby because the color changed from yellow to greenish what you suspect disease: (i’m not sure about q) A. Abo
C. Due to oxidation of bilirubin
D. The treatment start to work
Answer : c !
Thalassemia causing stillbirth, which type is it?
A. Two normal beta chains and 2 normal alpha chains
B. Two normal beta chains and 4 abnormal alpha chains
C. 2 abnormal beta chains and 4 normal alpha chains
D. 4 abnormal beta chains and 2 normal alpha chains
This is alpha thalassemia major this will cause loss of all alpha chain and it will lead to hydrop fetalis and consequently cause stillbirth.
Child presented with petechiae and his platelets is 15, otherwise healthy. What will you do for him?
Answer c : observation
in 80% of cases acute , self limiting with spontaneous recovery within 6-8 weeks
Treatment with IVIg or Prednisone if mucosal or internal bleeding, platelets <10, or at risk of significant bleeding .
Life-threatening bleed: additional platelet transfusion ± emergency splenectomy Supportive RX : avoid contact sports and ASA/NSAIDs
Child eating a lot of milk but he does not eat meat, mcv hypochromic microcytic anemia , how will you manage this child?
A. Oral vitamins + iron
B. Trial of iron then then observe
C. Folic acid
16 yr from aferica (ginia) with painless neck mass for 5 weeks developed cough , fever , urs:
A. Burkit lymphoma
B. Infectious mononucleosis
C. Hugging lymphoma
D. Lym dx
Burkitt lymphoma, or small noncleaved cell lymphoma, is a highly aggressive b-cell non-hodgkin lymphoma characterized by the translocation and deregulation of the c-myc gene on chromosome 8.
10 years old girl presented with fatigability, diarrhea and glossitis. What is the diagnosis?
Answer: vitamin B12 defeicncy
All anemia presents with fatigue, including macrocytic anemia,
·Vitamin B12 deficiency presents with neurological findings as well.
-The most common is peripheral neuropathy, but any form of neurological abnormality can develop at any part of the peripheral or central nervous system.
-The least common is dementia.
-Neurological problems resolve with treatment if they have been present for a short period of time.
·B12 deficiency also causes a smooth tongue (glossitis) and diarrhea.
· Folate deficiency: This does not present with neurological problems.
· Best initial test: CBC with peripheral blood smear (look for hyper segmented neutrophils and oval cells). The average number of lobes in the normal white cell is 3.5. If the average is > 4 if more than 5 percent of the cells have > 5 lobes, the patient has megaloblastic anemia as well as macrocytosis.
Oval cells will be visible on the peripheral smear as well.
bilirubin level and LDH, B12 deficiency raises LDH and indirect bilirubin by destroying red cells early, as they come out of the bone marrow. This phenomenon is called “ineffective erythropoiesis,” and it is why the reticulocyte count is low. Although the marrow itself is hypercellular, B12 deficiency creates a molecular defect that breaks down the cells just as they leave the marrow.
The reticulocyte count will be decreased.
Most accurate tests: Low B12 level (for B12 deficiency) and folate level (for folate deficiency).
Note: Up to 30 percent of those with B12 deficiency can have a normal B12 level, because transcobalamin is an acute phase reactant and any form of stress can cause its elevation. If you suspect B12 deficiency but the B12 level is normal, order a methylmalonic acid level. Homocysteine levels go up in both vitamin B12 deficiency and folate deficiency.
“What is the next best test to confirm the etiology of the B12 deficiency?” antiparietal cell antibodies and anti-intrinsic factor antibodies. These confirm pernicious anemia as the etiology of the B12 deficiency · Schilling’s test is an older, rarely done method of confirming the etiology and is not necessary if the antibodies are present.
Treatment B12 deficiency and folate deficiency are treated with replacement.
Note : Metformin blocks B12 absorption.
After B12 replacement therapy: Reticulocytes improve first , Neurological abnormalities improve last
8 years old boy with petechiae all over his body. Lab results: low platelets and high creatinine level. what is the diagnosis?
HUS if no fever or altered mental status
HUS = Microangiopathic hemolytic anemia + thrombocytopenia + renal failure
TTP= HUS + fever and/ or altered mental status.
What can increase fetal hemoglobin in sickle cell anemi (no hydroxyurea in the options) :
5-azacytidine, butyric acid, erythropoietin and hydroxyurea
child with normochromic normocytic anemia + splenomegaly. Blood smear was attached showing clear spherocytosis. which of the following will be abnormal?
This condition presents with:
1-Recurrent episodes of hemolysis
3- Bilirubin gallstones
3- Elevated mean corpuscular hemoglobin concentration (MCHC)
The most accurate test for hereditary spherocytosis is an osmotic fragility test.
Splenectomy will prevent hemolysis since the cells are destroyed in the spleen.
Hereditary spherocytosis is the genetic loss of both ankyrin and spectrin in the red cell membrane. Ankyrin and spectrin are the basis of the cytoskeleton that maintains the RBC membrane in its biconcave disc. Without this cytoskeleton, the RBC pops into a sphere.
12 yo , mild jaundice, splenomegaly , echogenic shadow of gall bladder ?
Answer: C. hereditary spherocytosis
Child with URTI is complaining of bleeding from nose, gum and bruising the treatment is: A-Prednisolone
Answer : A
- Common medications used to treat idiopathic thrombocytopenic purpura include:
● Corticosteroids.The first line of therapy for ITP , usually prednisone, which can help raise platelet count by decreasing the activity of immune system. Once the platelet count is back to a safe level, you can gradually discontinue taking the drug..
● Intravenous immune globulin (IVIG) If there is critical bleeding or need to quickly increase of blood count before surgery .
● Thrombopoietin receptor agonists. The newest medications approved to treat ITP are romiplostim (Nplate) and eltrombopag (Promacta). These drugs help bone marrow produce more platelets, which helps prevent bruising and bleeding. Possible side effects include headache, joint or muscle pain, dizziness, nausea or vomiting, and an increased risk of blood clots.
● Biologic therapy. Rituximab (Rituxan) helps reduce the immune system response. It's generally used for people with severe ITP, and in those who corticosteroids don't help. Possible side effects include low blood pressure, fever, sore throat and rash
5 years old girl presenting with hepatospleenomegally, pale, decreased level of conscious, V\S indicating shock labs: Hb: 5 Platlets: 65
what's your important next investigation?
A- Abdomen US
B- Reticulcytes count* (patient has spleenic sequestration)
C- BM biopsy
Answer : B
Acute splenic sequestration crisis ASSC is characterized by sudden drop in hemoglobin concentration, tender splenomegaly, thrombocytopenia, and reticulocytosis . ( suddenly developed tender splenomegaly, high fever, acute anemia, thrombocytopenia, leukocytosis, jaundice, hypoxia, and tachycardia )
Effective circulating blood volume is reduced, sometimes leading to hemodynamic instability. Fever, leukocytosis, splenic rupture, and death may occur.
Sickler PT with recurrent cholecystitis what is management:
Case of SCA . What is the most important on long term ?
Long case about child 2 months with respiratory symptoms his brother dies from pneumonia and her sister doesn’t have any medical hX. Investigations. ShowT cell 0 low all IG
Dx Not clearQQ