Hematology and Oncology Flashcards
(260 cards)
1
Q
What are the main causes of anemia due to decreased production ?
A
-
Deficiency : ✍️ Iron, Folic acid, Vitamin B12
- Infiltration : ✍️ Leukemia, Lymphoma
- Failure or toxins : ✍️ Bone marrow failure or exposure to toxic substances.
2
Q
What are the main causes of anemia due to increased destruction?
A
💡Defective hemoglobin (✍️Thalassemia).
💡Membrane defect (✍️Spherocytosis).
💡Enzyme deficiency (✍️G6PD).
💡Autoimmune.
3
Q
How do vitamin B12 and folate deficiencies lead to anemia?
A
🔻 Both cause macrocytic anemia , where red blood cells are larger than normal, due to *poor DNA synthesis and ineffective RBC production .
4
Q
How does bone marrow infiltration affect RBC production?
A
🔻Conditions like leukemia and lymphoma infiltrate the bone marrow, disrupting normal RBC production and causing normocytic anemia.
5
Q
How does bone marrow failure contribute to anemia?
A
🔻Bone marrow failure (✍️ aplastic anemia) leads to inadequate production of RBCs, resulting in normocytic anemia .
6
Q
What is the effect of hereditary spherocytosis on RBCs?
A
🔻In hereditary spherocytosis , RBC membranes are defective, making them spherical and more prone to destruction, resulting in hemolytic anemia.
7
Q
How does G6PD deficiency cause hemolytic anemia ?
A
🔻G6PD deficiency makes RBCs more vulnerable to oxidative stress , leading to hemolysis when exposed to certain triggers .
8
Q
What occurs in autoimmune hemolytic anemia?
A
🔻In autoimmune hemolytic anemia, the immune system attacks and destroys RBCs , leading to hemolytic anemia.
9
Q
A child presents with anemia due to decreased RBC production . Which is NOT a likely cause?
a) Iron deficiency
b) Leukemia
c) Hereditary spherocytosis
d) Vitamin B12 deficiency
A
👏
c) Hereditary spherocytosis
## footnote
📍 It’s increased destruction, not decreased production)
10
Q
What are the main causes of microcytic anemia ?
A
✔️ Iron deficiency anemia
✔️ Anemia of chronic disease
✔️ Thalassemia
✔️ Sideroblastic anemia
11
Q
A child presents with anemia. Which pairing is correct?
a) Iron deficiency – macrocytic anemia
b) Thalassemia – microcytic anemia
c) Leukemia – microcytic anemia
d) B12 deficiency – normocytic anemia
A
✅
b) Thalassemia – microcytic anemia
12
Q
How is anemia classified based on MCV ?
A
✔️ Microcytic: MCV < ( 70 + age in years)
✔️ Normocytic: MCV > ( 70 + age) and < 100
✔️ Macrocytic: MCV > 100
## footnote
📍 MCV is estimated by comparing the size of red blood cells to the nucleus of a well-matured lymphocyte; a normal RBC is about the same size as the lymphocyte nucleus.
13
Q
In *microcytic anemia , hemoglobin is deficient in which components?
A
✔️ Heme (iron + protoporphyrin)
✔️ Globin
14
Q
What is the normal MCV in newborns and young children ?
A
➡️ Newborn: 95–121 fL
➡️ 6 months–2 years: 70–86 fL
15
Q
A 4-year-old boy drinks excessive cow’s milk and presents with pallor . Labs show Hb 6.0 g/dL, MCV 59 fL, WBC normal, high platelets, low retic. What’s the most likely diagnosis?
a) Thalassemia
b) Iron deficiency anemia
c) Sideroblastic anemia
d) Anemia of chronic disease
A
👏
b) Iron deficiency anemia
16
Q
What are the main nutritional causes of iron deficiency anemia in children?
A
✔️Exclusive breastfeeding (without iron supplementation )
✔️Low intake of iron-rich foods
✔️ Excessive cow’s milk consumption 🍼 (>32 oz/day).
## footnote
💡 32 oz/day =~ 500ml or 1/2 L.
17
Q
What are causes of impaired iron absorption leading to iron deficiency anemia?
A
Malabsorption syndromes (✍️ celiac disease ).
18
Q
What are causes of iron loss leading to iron deficiency anemia?
A
✔️ GI causes:
• Cow’s milk allergy
• Meckel’s diverticulum
• Vascular malformations
• Hookworm infestation.
✔️ GU causes:
• Menstrual bleeding.
19
Q
What are the classic clinical features of iron deficiency anemia?
A
🔻Pallor 🌝
🔻koilonychia (spoon nails) 👈
🔻pica 🧊
🔻headache 😖
🔻irritability 🫨
🔻anorexia 😐
🔻tachycardia 🫀
🔻systolic murmur 🫀
20
Q
What are the typical lab findings in iron deficiency anemia?
A
•⬇️ serum iron
• ⬇️ ferritin
• ⬇️ reticulocyte count
• ⬆️ TIBC
• Mentzer index > 13
## footnote
💡 TIBC : Total iron binding capacity, and it is inversely proportionate to ferritin levels.
21
Q
How is Mentzer index calculated and interpreted?
A
💡 MCV ÷ RBC count ; >13 suggests iron deficiency anemia , <13 suggests thalassemia .
22
Q
Why can ferritin be normal in iron deficiency anemia ?
A
📍 Inflammatory conditions (✍️hepatitis, anemia of chronic disease) can elevate ferritin despite iron deficiency.
## footnote
💡 Ferritin is an acute phase reactant, and its levels increase during inflammation or infection, can mask iron deficiency.
23
Q
What is the treatment dose for oral iron in children?
A
✅ 3–6 mg/kg/day of elemental iron.
24
Q
How can iron absorption be enhanced?
A
Take iron on an empty stomach with vitamin C (✍️ orange juice 🍊 or lemonade).
25
How is **response** to iron therapy monitored?
📋 Check **CBC** in 2–4 weeks; expect **Hgb ⬆️ by ≥1 g/dL** in **14 days** .
26
What is the **timeline of hematologic response** to iron therapy?
✔️ **12–24 hrs** : **Symptom improvement**
✔️ **36–48 hrs** : **Bone marrow erythroid hyperplasia**
✔️ **48–72 hrs** : **Reticulocytosis** (peaks at 5–7 days)
✔️ **4–30 days** : **Hemoglobin increase**
✔️ **1–3 months** : **Repletion of iron stores**
27
How does **RDW** help differentiate between types of **microcytic anemia** ?
## footnote
✏️ RDW : Red Cell Distribution Width
📍 **Increased RDW** : Suggests **Iron deficiency anemia** , where there’s variation in RBC size.
📍 **Normal or mildly increased RDW** : **Suggests Thalassemia** , where RBCs are uniformly small.
## footnote
💡 **RDW** measures the variation in the **size of red blood cells** .
💡 Normal range is 11.5% to 14.5%.
28
A child with **juvenile arthritis** has anemia ( **Hb 8** g/dL, low serum iron, **high ferritin** , **low MCV** ). What is the most likely diagnosis?
a) Iron deficiency anemia
b) Thalassemia minor
c) Anemia of chronic disease
d) Sideroblastic anemia
👏
c) Anemia of chronic disease
## footnote
💡 Serum ferritin is high in anemia of chronic disease because it acts as an acute phase reactant, even though iron stores are not deficient.
29
What are the common causes of **anemia of chronic disease** ?
✔️Chronic infections.
✔️ Malignancy.
✔️ Autoimmune diseases.
30
What is the main **pathophysiologic mechanism** of **anemia of chronic disease** ?
**⬆️ inflammatory cytokines** → **⬆️ hepcidin** → **⬇️ iron absorption and trapping of iron in macrophages** .
## footnote
💡 Hepcidin blocks iron release from macrophages and decreases intestinal iron absorption.
31
What are the typical lab findings in anemia of chronic disease?
📋
• ⬇️ hemoglobin (6–9 g/dL)
• ⬇️ or normal MCV (can be normocytic early)
• ⬇️ serum iron
• Elevated serum ferritin
32
What is the genetic defect in **alpha vs beta thalassemia** ?
✔️ **Alpha thalassemia** : decreased/absent **alpha globin** production
✔️ **Beta thalassemia** : decreased/absent **beta globin** production << Chromosome 11>>.
## footnote
💡 Hemoglobin = oxygen-carrying protein → made of **4 globin chains** :
🔻 **2 alpha chains**
🔻 **2 non-alpha chains** (beta, gamma, delta depending on age)
33
What are the types of **beta thalassemia** ?
✔️ Beta thalassemia **minor** (trait)
✔️ Beta thalassemia **intermedia**
✔️ Beta thalassemia **major**
## footnote
💡 In beta thalassemia → less beta chains → excess alpha chains → form toxic aggregates → destroy RBCs.
💡 Beta chains start after birth → symptoms appear 3-6 months after birth.
34
What are the features of beta thalassemia **minor** ?
📍 Usually **asymptomatic**
✔️ Possible mild anemia, pallor, fatigue
❌ **No treatment required**
35
What are the **key** clinical features of beta thalassemia **major**?
⏲️ Symptoms start at **3–6 months** of age
✔️ **Pallor, jaundice, hepatosplenomegaly, growth retardation**
✔️ **Skeletal deformities** : frontal bossing, maxillary hyperplasia
✔️ **Endocrine dysfunction** : hypothyroidism, diabetes
✔️ **Heart failure** 🫀
36
How is beta thalassemia **diagnosed** ?
✔️ **Hemoglobin electrophoresis** → ⬆️ HbA2 (4-6%), **⬆️ HbF**
✔️ **Blood smear** → microcytosis, hypochromia, target cells
✔️ ⬇️ MCV, **Mentzer index <13**
✔️ ⬆️ serum iron, ⬆️ ferritin, ⬆️ transferrin saturation.
## footnote
💡 ⬆️ serum iron ➡️ increased iron absorption in beta thalassemia ➡️ Ineffective erythropoiesis suppresses hepcidin ➡️ increased iron absorption from the gut.
37
A 5-month-old infant presents with pallor, jaundice, hepatosplenomegaly. Blood smear shows target cells; hemoglobin electrophoresis shows **↑ HbA2 and ↑ HbF** . Likely diagnosis?
A) Iron deficiency anemia
B) Beta thalassemia minor
C) Beta thalassemia major
D) Hereditary spherocytosis
👏
**C) Beta thalassemia major**
38
Which of the following is **FALSE** about beta thalassemia minor?
A) Usually asymptomatic
B) Mentzer index >13
C) ↑ HbA2 on electrophoresis
D) No treatment required
👏
**B) Mentzer index >13** (actually **<13** )
39
What is the **main cause of anemia in beta thalassemia major** ?
A) Iron deficiency
B) Decreased alpha chain production
C) Excess unpaired alpha chains causing RBC destruction
D) Vitamin B12 deficiency
👏
**C) Excess unpaired alpha chains causing RBC destruction**
39
Which lab finding is characteristic of beta thalassemia **trait** ?
A) ↓ HbA2
B) Normal MCV
C) ↑ HbA2 (4-6%)
D) Mentzer index >13
👏
**C) ↑ HbA2 (4-6%)**
40
Why does beta thalassemia **major** not present **at birth**?
A) Because HbA is not required at birth
B) Because HbF is predominant at birth
C) Because HbA2 is protective
D) Because iron stores are normal at birth
👏
**B) Because HbF is predominant at birth**
41
What is the treatment for beta thalassemia **major** ?
✔️ Chronic transfusion therapy
✔️ Iron chelation ( **deferoxamine** )
✔️ **Bone marrow transplant** → curative
## footnote
💡 Iron supplementation is contraindicated unless there is proven iron deficiency (which is rare).
42
Why **can’t** beta thalassemia be diagnosed by hemoglobin electrophoresis in **neonates** ?
🔻Because **HbF (fetal hemoglobin)** is *predominant at birth** , and **HbA & HbA2** are **low/absent** , so abnormalities in beta chain production can’t be detected yet.
43
Why do patients with beta thalassemia **major** develop **skeletal abnormalities** ?
➡️ Expansion of bone marrow due to increased erythropoiesis → leads to **maxillary hyperplasia** , **frontal bossing**
44
Skull X-Ray appearance in beta thalassemia **major** .
**hair-on-end** skull on X-ray.
45
Why does ineffective erythropoiesis occur in beta thalassemia major?
➡️ Due to **accumulation of unpaired alpha chains** → **destroy RBC precursors in the bone marrow** .
46
A child with **beta thalassemia major** is at risk for which of the following due to iron overload?
A) Hyperthyroidism
B) Cardiomyopathy
C) Polycythemia
D) Pulmonary fibrosis
👏
**B) Cardiomyopathy**
47
Why is hemoglobin electrophoresis **not reliable** for diagnosing beta thalassemia **at birth** ?
A) HbA2 is too high
B) HbF masks abnormal HbA2/HbA levels
C) HbA predominates at birth
D) HbB chain is absent in neonates
👏
**B) HbF masks abnormal HbA2/HbA levels**
48
What is **sideroblastic anemia** ?
🔻 A **microcytic anemia caused by **defective protoporphyrin synthesis** in the mitochondria ➡️ leading to iron buildup in erythroblast mitochondria.
49
What happens to **iron** in sideroblastic anemia?
Iron is present but **can’t be incorporated into heme** ➡️ **accumulates in mitochondria** ➡️ **forms ringed sideroblasts**.
50
What are the **causes** of sideroblastic anemia?
✔️ **Congenital** : ALAS mutation (aminolevulinic acid synthase deficiency)
✔️ **Acquired** :
❗️**Lead poisoning**
❗️**Vitamin B6 deficiency** (isoniazid, alcohol)
❗️ **Myelodysplastic syndromes**
❗️ **Copper deficiency**
51
How is sideroblastic anemia diagnosed?
✔️ **Peripheral smear** : microcytic, hypochromic anemia
✔️ **Bone marrow biopsy + Prussian blue stain** → **ringed sideroblasts**
✔️ **Iron studies** : ⬆️ serum iron, ⬆️ ferritin, ⬇️ TIBC.
52
What is the **treatment for sideroblastic anemia** ?
**Depends on cause** :
✔️ Vitamin B6 (pyridoxine) ➡️ if B6 deficiency
✔️ Remove toxins (lead, alcohol)
✔️ Treat underlying disease
53
Which of the following is **NOT** a cause of sideroblastic anemia?
A) Lead poisoning
B) Vitamin B6 deficiency
C) Iron deficiency
D) Alcoholism
👏
**C) Iron deficiency**
54
What are the **two main categories** of **macrocytic anemia** ?
➡️ **Megaloblastic anemia**.
➡️ **non-megaloblastic anemia** .
55
What causes megaloblastic anemia?
**Vitamin B12** or **folate deficiency** ➡️ **impaired DNA synthesis** .
56
What causes non-megaloblastic macrocytic anemia?
✔️ Hypothyroidism
✔️ Liver disease
✔️ Bone marrow failure
✔️ Hemolysis/hemorrhage (reticulocytosis)
57
How do vitamin B12 and folate work together?
💡 Both are required for **homocysteine** ➡️ methionine conversion (DNA synthesis🪄);
vitamin B12 also converts **methylmalonyl-CoA** ➡️ **succinyl-CoA** (myelin synthesis🪄).
58
What happens if **vitamin B12 deficiency** is treated with **folate** only?
🫵 **Anemia improves* , but **neurological symptoms worsen** 👀.
59
What are neurological symptoms of vitamin B12 deficiency in children?
✔️ Poor growth📈
✔️ Developmental delay
✔️ Poor school performance 🧑🏫
✔️ Paresthesia
✔️ Ataxia.
60
What **dietary** habit increases risk for **vitamin B12 deficiency** ?
**Vegan diet** (no animal products).🍀
61
Which lab test helps **distinguish megaloblastic from non-megaloblastic** macrocytic anemia?
A) Serum ferritin
B) Reticulocyte count
C) Serum iron
D) Hemoglobin electrophoresis
👏
**B) Reticulocyte count**
62
Which finding is **most specific for megaloblastic anemia** on peripheral smear?
A) Target cells
B) Hypersegmented neutrophils
C) Basophilic stippling
D) Heinz bodies
👏
**B) Hypersegmented neutrophils**
63
What is **Diamond-Blackfan anemia** ?
📍A **congenital hypoplastic anemia** caused by **a primary defect in erythroid progenitor cells** .
64
At what **age** does Diamond-Blackfan anemia typically present?
👶 **2–6 months of age** with **severe anemia** .
65
What are **key congenital anomalies** seen in **Diamond-Blackfan anemia** ?
✔️ Short stature
✔️ Craniofacial dysmorphism ( **snub nose** , wide-set eyes, thick upper lip)
✔️ Thumb anomalies ( **triphalangeal** , absent, bifid, or extra thumbs)
66
How is **Diamond-Blackfan anemia** treated?
✔️First-line🥇: **corticosteroids**
✔️ If refractory: **chronic transfusions**
✔️ Consider stem cell transplantation in severe cases.
67
What is the **prognosis** of Diamond-Blackfan anemia?
**Median survival is >40 years** .
68
A 4-month-old infant presents with **profound anemia** , **triphalangeal thumbs** , and **wide-set eyes** . Likely diagnosis?
A) Fanconi anemia
B) Diamond-Blackfan anemia
C) Transient erythroblastopenia of childhood
D) Beta-thalassemia major
👏
**B) Diamond-Blackfan anemia**
69
Which of the following is **NOT** a feature of Diamond-Blackfan anemia?
A) Short stature
B) Radial anomalies
C) Pancytopenia
D) Craniofacial dysmorphism
👏
**C) Pancytopenia**
70
Diamond-Blackfan anemia primarily involves a defect in:
A) Megakaryocyte progenitors
B) Myeloid progenitors
C) Erythroid progenitors
D) Lymphoid progenitors
👏
**C) Erythroid progenitors**
71
A **characteristic skeletal anomaly** in Diamond-Blackfan anemia is:
A) Absent radius
B) Triphalangeal thumb
C) Polydactyly of the foot
D) Syndactyly
👏
**B) Triphalangeal thumb**
72
What is **intravascular hemolysis** ?
➡️ Destruction of RBCs **inside blood vessels** ➡️ free hemoglobin released into plasma ➡️ binds to **haptoglobin** ➡️ ⬇️ serum haptoglobin ➡️ **hemoglobinemia, hemoglobinuria** .
73
What is extravascular hemolysis?
➡️Destruction of RBCs **by macrophages*** in **spleen, liver, lymph nodes** ➡️ no free hemoglobin in plasma ➡️ leads to **splenomegaly** .
74
Why does **haptoglobin decrease** in intravascular hemolysis?
➡️ Because it binds to the free hemoglobin released from lysed RBCs, leading to depletion of circulating haptoglobin.
75
Why is there **no hemoglobinuria in extravascular hemolysis** ?
➡️ Because **RBCs are destroyed inside macrophages, not released into the circulation** .
76
A patient with anemia, jaundice, splenomegaly, but **no hemoglobinuria** likely has:
A) Intravascular hemolysis
B) Extravascular hemolysis
👏
**B) Extravascular hemolysis**
77
What is the cause of **hereditary spherocytosis** ?
📍Defect in **RBC membrane proteins** ➡️ spherical RBCs ➡️ extravascular hemolysis.
78
What are the key lab findings?
📋
✅ Normal MCV
✅↑ MCHC
✅↑ reticulocytes
✅↑ indirect bilirubin
✅ Positive osmotic fragility test.
79
Why does **parvovirus B19** cause an **aplastic crisis** ?
It **stops erythropoiesis** ➡️ **sudden severe anemia** .
80
What is the **definitive treatment** ?
❗️Splenectomy
## footnote
🫵 With pre-op vaccines + post-op penicillin prophylaxis.
💡 Vaccination is done **for encapsulated organism** : **H influenza, meningococcus, pneumococcus**.
81
A child with jaundice, splenomegaly, anemia, normal MCV, and **high MCHC** likely has:
A) Beta thalassemia
B) Hereditary spherocytosis
C) G6PD deficiency
D) Sickle cell anemia
👏
**B) Hereditary spherocytosis**
82
Which complication is triggered by parvovirus B19 in hereditary spherocytosis?
A) Splenic sequestration crisis
B) Aplastic crisis
C) Hemolytic crisis
D) Megaloblastic crisis
👏
**B) Aplastic crisis**
83
What **causes sickle cell disease** ?
🔻**Mutation** in **beta-globin gene** ➡️ substitution of **valine for glutamic acid** at position **6** ➡️ **HbS** .
84
What is the **inheritance pattern** ?
**Autosomal recessive** .
85
When do symptoms of sickle cell disease appear?
**After 6 months of age**
## footnote
**due to decline in HbF** .
86
What are the main **clinical manifestations** of sickle cell disease?
✔️Pain crisis
✔️Splenic sequestration
✔️Aplastic crisis (Parvovirus B19)
✔️Dactylitis
✔️Stroke
✔️Acute chest syndrome
87
What will you see on a **peripheral smear** in sickle cell disease?
**Sickle cells, target cells** .
88
What is the **Hb electrophoresis** pattern in **disease vs. trait** ?
✔️ **Disease** ➡️ HbS 90%, HbF 8%, HbA2 2%, **No HbA** .
✔️ **Trait** ➡️ HbA 55%, HbS 43%, HbA2 2%.
89
What organism causes osteomyelitis in SCD?
**Salmonella** (most common),
**Staph aureus** .
90
What organisms cause increased infection risk?
**Encapsulated organisms** ➡️
💡Streptococcus pneumoniae.
💡H. influenzae
💡Neisseria meningitidis.
91
What is the treatment of fever in SCD?
**Medical emergency** ➡️ IV 3rd gen cephalosporin (Cefotaxime), blood culture, CXR.
92
What is the **management of splenic sequestration** ?
✔️**IVF**.
✔️ **blood transfusion**.
✔️ **monitor hemodynamic stability** .
93
What is the **management of pain crisis** ?
✔️ **IV hydration** .
✔️** analgesia**. (opioids if severe).
✔️ **oxygen** .
94
What is the role of hydroxyurea?
⬆️ HbF → ⬇️ pain crises by 50%;
## footnote
💡side effect: **myelosuppression** (reversible).
95
What is the **management of aplastic crisis** ?
**Blood transfusion support** ➡️ **monitor reticulocyte recovery* .
96
How to diagnose stroke?
**MRI with MRA** .
## footnote
💡Not CT scan.
97
How to **prevent recurrent stroke** ?
**Chronic transfusions to keep HbS <30%** .
98
What is **acute chest syndrome** ?
**Fever + respiratory distress 🫁+ new CXR infiltrate**
## footnote
💡 Treat with:
✔️ **Oxygen**.
✔️ **Antibiotics (macrolide + 3rd gen ceph)**.
✔️ **Exchange transfusion if worsening** .
99
A 3-year-old **African American boy** develops **jaundice** and **dark urine** two days after **eating fava beans** . Labs show anemia, **elevated indirect bilirubin** , **increased reticulocyte count** , and **negative Coombs test** . **Peripheral smear shows bite cells** . What is the most likely diagnosis?
A) Autoimmune hemolytic anemia
B) Hereditary spherocytosis
C) G6PD deficiency
D) Sickle cell disease
👏
**C) G6PD deficiency**
100
Which of the following is a **classic trigger for hemolytic crisis** in a child with **G6PD** deficiency?
A) Cold exposure
B) Sulfamethoxazole-trimethoprim
C) Iron supplements
D) High altitude
👏
**B) Sulfamethoxazole-trimethoprim**
101
A child with **G6PD deficiency** is found to have anemia, reticulocytosis, and indirect hyperbilirubinemia. Which of the following findings is most characteristic on **peripheral smear** ?
A) Howell-Jolly bodies
B) Schistocytes
C) Heinz bodies and bite cells
D) Target cells
👏
**C) Heinz bodies and bite cells**
102
What is the inheritance pattern of **G6PD deficiency** ?
👏
**X-linked recessive** .
103
What **triggers** hemolysis in G6PD deficiency?
**Oxidative stress** ➡️
❗️Drugs **(✍️sulfonamides, antimalarials, aspirin)** .
❗️fava beans.
❗️infections.
104
What is the **classic presentation** of acute hemolytic anemia in **G6PD deficiency** ?
✔️Sudden pallor.
✔️ Jaundice.
✔️ Dark urine.
✔️ Fatigue after exposure to oxidative stress.
105
What **laboratory findings** are expected in acute hemolytic anemia from **G6PD deficiency** ?
📋
✔️ **Normocytic anemia**
✔️ **Increased reticulocytes**
✔️ **Increased indirect bilirubin**
✔️ **Decreased haptoglobin**
✔️ **Negative Coombs test**
106
A 2-year-old boy presents with fatigue and pallor after **taking an unknown medication** . He has jaundice and dark urine. **Coombs test is negative** . What is the next best step in management?
A) High-dose steroids
B) Splenectomy
C) Avoid oxidative agents and provide supportive care
D) Chelation therapy
👏
**C) Avoid oxidative agents and provide supportive care** .
107
How is the **diagnosis** of G6PD deficiency **confirmed** ?
📍Decreased G6PD **enzyme** activity measured **weeks after hemolytic episode** .
108
What is the **management of acute hemolytic crisis in G6PD deficiency** ?
❌ **Avoid oxidant agents**
✔️ **Supportive care** (hydration, transfusion if needed).
✔️ Folic acid.
109
What is the **mechanism of autoimmune hemolytic anemia (AIHA)** ?
🔻**Autoantibodies target antigens on the red blood cell (RBC) surface** , leading to **RBC destruction** .
110
What is the **most common antibody in pediatric AIHA** ?
**IgG** against Rh complex .
## footnote
💡 It called warm autoantibody
111
What **infections** are associated with cold agglutinin **AIHA (IgM)** ?
✔️ **Mycoplasma pneumoniae**.
✔️ **Epstein-Barr virus (EBV)** .
112
A 6-year-old child presents with fatigue, jaundice, and dark urine. Labs show **anemia** , **elevated reticulocyte count** , and **a positive direct Coombs test** . What is the most likely diagnosis?
A) Hereditary spherocytosis
B) Autoimmune hemolytic anemia
C) G6PD deficiency
D) Sickle cell anemia
👏
**B) Autoimmune hemolytic anemia**
113
Which of the following is the mechanism of hemolysis in **cold agglutinin disease** ?
A) IgG-mediated destruction in the spleen
B) IgM-mediated complement activation at low temperatures
C) Hemoglobin polymerization
D) Enzyme deficiency in RBC metabolism
👏
**B) IgM-mediated complement activation at low temperatures**.
114
A 7-year-old child with **warm autoimmune hemolytic anemia** has **worsening anemia despite supportive care**. What is the next best treatment?
A) High-dose corticosteroids
B) Iron chelation therapy
C) Antibiotic therapy
D) Exchange transfusion
👏
** A) High-dose corticosteroids**
115
How do you differentiate warm from cold AIHA?
🔻 Warm AIHA ➡️ **IgG** , **active at 37°C**
🔻 Cold AIHA ➡️ **IgM** , **active at 3-4°C**
116
What **treatment** is indicated in **severe or refractory AIHA**?
✔️ IVIG.
✔️ Transfusion.
✔️ Splenectomy.
117
118
What is the **inheritance pattern of Fanconi anemia** ?
📍**Autosomal recessive** 👦.
119
What are the key **mutated genes** in **Fanconi anemia** ?
FANCA, FANCC.
120
A child presents with **café-au-lait spots** , **absent thumbs** , **short stature** , and **macrocytic anemia** . What is the most likely diagnosis?
A) Diamond-Blackfan anemia
B) Fanconi anemia
C) G6PD deficiency
D) Sickle cell disease
👏
**B) Fanconi anemia**.
121
Which **test confirms the diagnosis of Fanconi anemia** ?
A) Hemoglobin electrophoresis
B) Direct Coombs test
C) Chromosomal breakage study (DEB test)
D) G6PD enzyme assay
👏
**C) Chromosomal breakage study (DEB test)**
122
Which of the following is **NOT** a typical finding in **Fanconi anemia** ?
A) Macrocytic anemia
B) Pancytopenia
C) Triphalangeal thumb
D) Increased hemoglobin A2
👏
**D) Increased hemoglobin A2**
123
Which **malignancy** is **Fanconi anemia** associated with?
A) Hodgkin lymphoma
B) Acute myeloid leukemia
C) Medulloblastoma
D) Retinoblastoma
👏
**B) Acute myeloid leukemia**
124
A child with **Fanconi anemia** develops **worsening pancytopenia** . What is the definitive treatment?
A) Steroids
B) Erythropoietin
C) Bone marrow transplant
D) Iron supplementation
👏
**C) Bone marrow transplant**.
125
What other congenital anomalies are associated?
✔️ Short stature.
✔️ Renal anomalies (horseshoe kidney, absent/duplicated kidney).
✔️Microcephaly
✔️ Intellectual disability.
126
What **hematologic findings** are expected in **Fanconi anemia** ?
**Pancytopenia** (thrombocytopenia, neutropenia, anemia).
127
What are **major complications** of **Fanconi anemia** ?
✔️ Acute leukemia.
✔️ Head & neck squamous cell carcinoma.
✔️ Esophageal carcinoma.
128
What is the **inheritance pattern** of **Shwachman-Diamond syndrome** ?
📍**Autosomal recessive**👦 .
129
Which **gene is mutated** in **Shwachman-Diamond syndrome** ?
🔻**SBDS gene** .
130
What are the key clinical features of Shwachman-Diamond syndrome?
✔️ **Failure to thrive (FTT)**.
✔️ **Steatorrhea**.
✔️ **Short stature**.
✔️ **Recurrent infections**.
✔️ **Metaphyseal dysostosis**.
131
Which of the following is **a typical lab finding** in **Shwachman-Diamond syndrome** ?
A) High fecal elastase
B) High pancreatic trypsinogen
C) Low fecal elastase
D) Elevated sweat chloride
👏
**C) Low fecal elastase**
132
Which **malignancy** is **Shwachman-Diamond syndrome** associated with?
A) Medulloblastoma
B) Acute lymphoblastic leukemia
C) Acute myeloid leukemia
D) Retinoblastoma
👏
**C) Acute myeloid leukemia**
133
What is the **main treatment** for **neutropenia** in **Shwachman-Diamond syndrome** ?
A) Iron supplements
B) Erythropoietin
C) Granulocyte colony-stimulating factor (G-CSF)
D) Bone marrow transplant
👏
**C) Granulocyte colony-stimulating factor (G-CSF)**
134
What is the **key radiological finding** in the **pancreas** of a child with **Shwachman-Diamond syndrome** ?
A) Enlarged pancreas with cysts
B) Small fibrotic pancreas
C) Fatty infiltration of the pancreas
D) Calcifications in the pancreas
**C) Fatty infiltration of the pancreas**.
135
136
What is the **cause of ITP** ?
📍**Autoantibodies against platelets** (antiplatelet antibodies).
137
What usually **precedes ITP** in children?
**A viral infection 1-4 weeks earlier** 🦠.
138
What are the **typical clinical features** of ITP?
✔️Petechiae
✔️purpura
✔️ecchymoses
✔️epistaxis
❗️otherwise healthy-looking child.
139
What does the CBC show in ITP?
✔️Isolated thrombocytopenia.
✔️normal WBCs and RBCs.
140
What is seen on peripheral smear in ITP?
✔️Large (giant) platelets.
✔️normal morphology of other cells.
141
What is the **major complication** feared in **ITP** ?
❗️**Intracranial hemorrhage** 🧠.
142
When is **observation** alone appropriate in **ITP** ?
🔻**If platelets > 20,000 and no significant bleeding** .
143
What are **treatment** options for a symptomatic child with **platelets < 20,000** ?
✔️ **IVIG**.
✔️ **Anti-D immunoglobulin (if Rh+)** .
✔️ **Corticosteroids** .
144
A 5-year-old child presents with **petechiae** , **bruising** , and **isolated thrombocytopenia** after **a viral infection** . The most likely diagnosis is:
A) Acute leukemia
B) Hemophilia A
C) Idiopathic thrombocytopenic purpura
D) Von Willebrand disease
👏
**C) Idiopathic thrombocytopenic purpura**.
145
A child with ITP and platelets of **10,000/uL** , **no active bleeding** , should initially be managed with:
A) Immediate platelet transfusion
B) Observation only
C) High-dose corticosteroids
D) IVIG
👏
**B) Observation only**
146
When is **splenectomy** considered in ITP?
📍**Severe ITP > 1 year in a child > 4 years old** .
147
Which of the following is **true** regarding **ITP** ?
A) Always requires splenectomy within 6 months
B) Platelet transfusion is contraindicated unless severe bleeding
C) Associated with low WBCs and anemia
D) Peripheral smear shows schistocytes
👏
**B) Platelet transfusion is contraindicated unless severe bleeding**.
148
Which laboratory finding is **most characteristic of ITP** ?
A) Thrombocytopenia with giant platelets
B) Pancytopenia with blasts
C) Microcytic anemia
D) Neutropenia with hypersegmented neutrophils
👏
**A) Thrombocytopenia with giant platelets**
149
A 6-year-old child with **ITP** has had **severe thrombocytopenia** for 14 months **despite treatment** . The next best step is:
A) Increase steroid dose
B) Platelet transfusion
C) Splenectomy
D) Bone marrow transplant
👏
**C) Splenectomy**
150
What is the **classic triad** of **Hemolytic Uremic Syndrome** ?
1️⃣ **Microangiopathic hemolytic anemia** .
2️⃣ **Thrombocytopenia**.
3️⃣ **Acute kidney injury** .
151
What is the **most common cause** of **HUS** in children?
📍 **Shiga toxin-producing E. coli O157:H7 infection** .
## footnote
💡 It **damages endothelial cells** → **microthrombi formation** → **mechanical hemolysis** + **ischemic renal injury** .
152
Why is **platelet count low in HUS** ?
💡 **Platelets are consumed in forming microthrombi** .
153
Why are **schistocytes** seen on peripheral smear in **HUS** ?
💡 **RBCs are fragmented while passing through fibrin strands in small vessels** .
154
Why should **antibiotics** be **avoided in HUS** ?
💡 **Antibiotics increase toxin release** ➡️ **worsening endothelial damage** .
155
Why is **dialysis sometimes required in HUS** ?
💡 **To manage acute renal failure and fluid/electrolyte imbalances** .
156
A 2-year-old develops **fatigue** and **decreased urine output** after **bloody diarrhea** . Labs show **anemia** , **thrombocytopenia** , elevated creatinine, and **schistocytes** . Diagnosis?
A) ITP
B) Hemolytic uremic syndrome
C) DIC
D) Thrombotic thrombocytopenic purpura
👏
**B) Hemolytic uremic syndrome**
157
Which of the following is **contraindicated** in managing **HUS** ?
A) Supportive care
B) Dialysis
C) Platelet transfusion for minor bleeding
D) Careful blood pressure control
👏
**C) Platelet transfusion for minor bleeding**
158
A child with HUS is noted to have **schistocytes** on smear and **elevated BUN**. Which **complication** is most likely?
A) Liver failure
B) Acute kidney injury
C) Pancreatitis
D) Stroke
👏
**B) Acute kidney injury**
159
The most important **initial treatment step** in **HUS** is:
A) Immediate antibiotics
B) Plasma exchange
C) Supportive care with fluids and electrolytes
D) High-dose corticosteroids
👏
**C) Supportive care with fluids and electrolytes**
160
Which **symptom** most likely **precedes HUS** ?
A) Jaundice
B) Bloody diarrhea
C) Respiratory distress
D) Purpuric rash
👏
**B) Bloody diarrhea**
161
What is the **inheritance** pattern of **hemophilia**?
🔻 X-linked recessive; primarily affects boys👦.
162
What is the deficient factor in Hemophilia A and Hemophilia B?
💡 Hemophilia **A** : Factor **VIII** deficiency.
💡 Hemophilia **B** : Factor **IX** deficiency.
163
What is the hallmark **clinical feature of hemophilia** ?
Hemarthrosis (spontaneous bleeding into joints, especially ankles, knees, elbows).
164
How is the severity of hemophilia classified?
✔️ Severe: <1% factor level
✔️ Moderate: 1-5%
✔️ Mild: >5%
165
What lab findings are characteristic of hemophilia?
🔻Prolonged aPTT
🔻Normal PT, bleeding time, and platelet count
.
166
When should prophylactic factor replacement be started?
📍 **Usually after the first joint bleed to prevent arthropathy** .
167
What **medication** can be used in mild **hemophilia A** ?
✅ **Desmopressin (DDAVP)** to increase factor VIII levels.
168
**What is the most common inherited bleeding disorder** ⁉️
✅ **Von Willebrand Disease (vWD)**
## footnote
🧠 It’s the most frequent genetic bleeding condition.
169
**What is the function of von Willebrand factor (vWF)** ⁉️
➡️ **Acts as a carrier protein for factor VIII in plasma**
➡️ **Mediates platelet aggregation and adhesion to damaged endothelium**
## footnote
✅ Dual role in coagulation and primary hemostasis
🧠 Helps stabilize factor VIII and supports platelet plug formation.
170
**What are the typical clinical features of vWD** ⁉️
🔷 Mucocutaneous bleeding:
➡️ **Epistaxis**
➡️ **Easy bruising**
➡️ **Menorrhagia**
➡️ **Gastrointestinal bleeding**
➡️ **Post-operative bleeding** (e.g., tonsillectomy, wisdom teeth)
## footnote
📈 Stress increases vWF levels 2–3×
⚠️ Iron deficiency in menstruating females warrants a bleeding history
171
**What are the 3 types of vWD and their key differences** ⁉️
🔻 **Type 1** : Partial deficiency of vWF (most common)
➡️ Treatment: Desmopressin (DDAVP) or cryoprecipitate
🔻 **Type 2** : Abnormal/dysfunctional vWF
➡️ Treatment: FVIII:vWF concentrate
🔻 **Type 3** : Complete absence of vWF
➡️ Treatment: FVIII:vWF concentrate or cryoprecipitate
172
**How is vWD diagnosed** ⁉️
🧪 **Clinical + Laboratory** :
🔹 Clinical:
➡️ Personal or family **history of mucocutaneous bleeding**
➡️ **Physical evidence of bleeding**
🔹 Laboratory:
➡️ **Normal platelet count**
➡️ **Prolonged aPTT** (may be normal in Type 1)
➡️ vWF antigen
➡️ Ristocetin cofactor activity
➡️ Plasma factor VIII activity
## footnote
⚠️ No criteria exclude vWD diagnosis
💡 vWF activity <30 IU/dL confirms diagnosis
✅ 30–50 IU/dL with strong family history also suggests vWD
173
**What is the treatment algorithm for vWD based on subtype** ⁉️
➡️ **Type 1** : **Desmopressin** (DDAVP) trial first-line
▪️ Dose: 0.3 mcg/kg → ⬆️ vWF & factor VIII by 3–5×
➡️ **Type 2 or 3** : **FVIII:vWF concentrates or cryoprecipitate**
## footnote
⚠️ Treatment depends on severity and subtype response
174
**Which of the following statements about Von Willebrand Disease is TRUE** ⁉️
A. PT is typically prolonged in vWD
B. Men are more frequently diagnosed than women
C. vWF stabilizes factor IX in circulation
D. Type 1 vWD is usually treated with Desmopressin (DDAVP)
**D. Type 1 vWD is usually treated with Desmopressin (DDAVP)**
## footnote
🧠 PT is usually normal; women diagnosed more due to menorrhagia; vWF stabilizes factor VIII.
175
**What is the standard pediatric dose and rate for packed red blood cell (PRBC) transfusion** ⁉️
🔷 **Dose** : 10–20 mL/kg
🔷 **Rate** : 5 mL/kg/hr (in healthy children)
## footnote
🧠 Individualized based on clinical status
176
**What type of PRBC filtration is recommended for all patients and why** ⁉️
✅ **Leukocyte (WBC) filtered**
➡️ Decreases risk of **cytomegalovirus (CMV) transmission** and febrile non-hemolytic transfusion reactions
## footnote
💡 Universal practice
177
**When should irradiated PRBCs be used** ⁉️
🚨 **For immunocompromised patients**
➡️ To **prevent graft-versus-host disease**
## footnote
🧠 Includes oncology, transplant, and congenital immunodeficiency patients
178
**What are the main complications of PRBC transfusion** ⁉️
⚠️ **Fever** (most common)
⚠️ **Allergic reactions** :
▪️ Urticaria
▪️ Anaphylaxis
## footnote
🚨 Monitor during and after transfusion
179
**What are the two main indications for fresh frozen plasma (FFP) transfusion** ⁉️
🔻 **Volume replacement**
🔻 **Coagulation factor deficiency**
## footnote
🧠 Use FFP cautiously—especially in non-bleeding patients
180
**What is the origin of all blood cells, including leukemic blasts, in acute leukemia** ⁉️
✅ **Hematopoietic stem cell**
➡️ Gives rise to both **myeloid** and **lymphoid** lineages
🧠 Basis for normal and malignant hematopoiesis
181
**Which two major blast lineages arise from hematopoietic stem cells** ⁉️
🔷 **Myeloid blast** ➡️ Megakaryocytes, RBCs, granulocytes
🔷 **Lymphoid blast** ➡️ Pre-T cells, Pre-B cells → T cells, B cells
##Footnote
🧠 Determines leukemia subtype: **AML** vs **ALL**
182
**What happens to normal hematopoiesis in acute leukemia** ⁉️
🚨 **Blasts replace normal hematopoiesis**
➡️ Bone marrow failure: anemia, thrombocytopenia, neutropenia
##Footnote
🧠 Blast % ≥20% defines **acute leukemia**
183
184
**What percentage of blast cells in the bone marrow is required to diagnose acute leukemia** ⁉️
📈 **≥20% blast cells**
✅ WHO criteria for **acute leukemia**
##Footnote
🧠 Seen in both **acute lymphoblastic leukemia (ALL)** and **acute myeloid leukemia (AML)**
185
**What are the consequences of leukemic blasts replacing normal marrow in acute leukemia** ⁉️
🔻 Decreased RBCs ➡️ **Anemia**
🔻 Decreased platelets ➡️ **Bleeding/bruising**
🔻 Decreased WBCs ➡️ **Infections**
## footnote
🚨 Bone pain and hepatosplenomegaly may also occur
186
**What is the most common childhood cancer, and at what age does it peak** ⁉️
✅ **Acute Lymphoblastic Leukemia (ALL)**
📈 Represents 25–30% of all childhood cancers
🔷 **Peak age** : **2–5 years**
187
**What genetic syndromes are associated with increased risk of ALL** ⁉️
⚠️ **Down syndrome**
⚠️ **Fanconi anemia**
⚠️ **Diamond-Blackfan anemia**
⚠️ **Shwachman-Diamond syndrome**
⚠️ **Ataxia-telangiectasia**
188
**What are the clinical features of B-precursor ALL** ⁉️
🔻 Bone pain, arthritis, limping
🔻 Fever (low or high)
🔻 Neutropenia
🔻 Fatigue, pallor
🔻 Petechiae, bleeding
🔻 Lymphadenopathy, hepatosplenomegaly
189
**What are the clinical features of mature B-cell ALL** ⁉️
🚨 **Extramedullary masses** (abdomen or head/neck)
🚨 **CNS involvement** : headache, vomiting, lethargy, nuchal rigidity
##Footnote
💡 Often aggressive presentation
190
**What are the clinical features of T-lineage ALL** ⁉️
🚨 **Mediastinal mass** ➡️ respiratory distress, stridor
➡️ Cough, orthopnea
➡️ Lymphadenopathy, hepatosplenomegaly
➡️ CNS cranial nerve palsies
➡️ **Testicular enlargement** (20% of cases)
191
**What are the common laboratory abnormalities in ALL** ⁉️
📉 **Thrombocytopenia** : 90%
📉 **Anemia** : 80%
📉 **Neutropenia** : 95%
##Footnote
🧠 Often presents with pancytopenia
192
**What surface markers help differentiate B-ALL vs T-ALL** ⁉️
🔷 **B-ALL** : CD10, CD19, CD20 (most common)
🔷 **T-ALL** : CD2–CD8
✅ Both express nuclear **TdT** (terminal deoxynucleotidyl transferase)
##Footnote
🧠 T-ALL: Think **teenager with thymic mass**
193
**What are the key findings on peripheral smear in ALL** ⁉️
🔬 Large mononuclear cells (lymphoblasts) with:
➡️ High nuclear-to-cytoplasmic ratio
➡️ Scant blue cytoplasm
➡️ Fine chromatin with nucleoli
## footnote
🧠 Smudge cells may be present
194
**What are the favorable and poor prognostic features in ALL** ⁉️
✅ **Good prognosis** :
▪️ Age 1–9.9 years
▪️ WBC <50,000
▪️ Pre-B cell type
▪️ Trisomy 4, 10, 17
▪️ t(12;21)
▪️ Rapid response to therapy
▪️ Low minimal residual disease (MRD)
🚨 **Poor prognosis** :
▪️ Age <1 or >10 years
▪️ WBC >50,000
▪️ T-cell or mature B-cell type
▪️ t(9;22) (Philadelphia chromosome), t(4;11)
▪️ Slow therapy response
▪️ High MRD
195
**Which of the following findings suggests poor prognosis in ALL** ⁉️
A. Age 3 years
B. WBC count 42,000
C. Pre-B cell markers
D. Philadelphia chromosome t(9;22)
👏
**D. Philadelphia chromosome t(9;22)**
##Footnote
💡 This cytogenetic abnormality is associated with poor prognosis in ALL.
196
**In which age group is AML more frequently seen, and what syndromes is it associated with** ⁉️
🔷 **Increased incidence in infants**
⚠️ Associated syndromes:
➡️ **Down syndrome** ➡️ acute megakaryoblastic leukemia
➡️ Fanconi anemia
➡️ Bloom syndrome
➡️ Kostmann syndrome
➡️ Shwachman-Diamond syndrome
➡️ Neurofibromatosis type I
197
**What exposure is linked to increased risk of AML** ⁉️
🚨 **Ionizing radiation**
##Footnote
🧠 Known environmental trigger
198
**What are the classic clinical signs of AML** ⁉️
📉 **Anemia** : pallor, fatigue, tachycardia, headache
⚠️ **Hemorrhage** : petechiae, epistaxis, gingival bleeding
🚨 **DIC** (Disseminated Intravascular Coagulation): especially in **acute promyelocytic leukemia** t(15;17)
🔥 **Persistent fever**
199
**What are the key laboratory findings in AML** ⁉️
📈 **High WBCs**
📉 **Low hemoglobin and platelet count**
⚠️ **DIC** in acute promyelocytic leukemia (t15;17)
##Footnote
🧠 Monitor coagulation and CBC closely
200
**What morphologic feature on peripheral smear is pathognomonic for AML** ⁉️
🔬 **Auer rods**
➡️ Elongated, needle-like structures in the cytoplasm of blast cells
✅ Diagnostic clue
201
**What metabolic emergency can develop after chemotherapy in AML patients with high WBCs** ⁉️
🚨 **Tumor Lysis Syndrome (TLS)**
➡️ **High uric acid, potassium, phosphate**
➡️ **Low calcium**
➡️ **Renal failure** : elevated BUN & creatinine
##Footnote
🧠 Triggered by rapid tumor breakdown
202
**What is the management of tumor lysis syndrome** ⁉️
🔷 **Hydration**
🔷 **Alkalinization of urine**
🔷 **Allopurinol** (prevents uric acid accumulation)
##Footnote
✅ Goal: prevent renal damage and electrolyte disturbances
203
**A child with AML develops lethargy, flank pain, dysuria, low urine output, and lab signs of electrolyte disturbance 72 hours after chemo. What is the diagnosis** ⁉️
A. Disseminated intravascular coagulation
B. Tumor lysis syndrome
C. Acute renal failure from sepsis
D. Hyperleukocytosis
👏
**B. Tumor lysis syndrome**
##Footnote
🧠 Classic signs: hyperuricemia, hyperkalemia, hypocalcemia, and renal failure
204
**How does Down syndrome affect leukemia risk in children** ⁉️
🚨 **34× increased risk** of acute leukemia
📈 20–30% of children with Down syndrome develop leukemia by age **3 years**
205
**Which type of leukemia is more common in Down syndrome children under and over 5 years of age** ⁉️
🔻 **< 5 years** ➡️ Acute Myeloid Leukemia (AML)
🔻 **> 5 years** ➡️ Acute Lymphoblastic Leukemia (ALL)
##footnote
🧠 Age-based pattern
206
**What is the prognosis of AML in children with Down syndrome** ⁉️
✅ **Better outcomes** compared to non-Down AML
##Footnote
💡 May respond well to less intensive therapy
207
**What is transient leukemia in neonates with Down syndrome** ⁉️
📍Also called **transient myeloproliferative disorder** or **myelodysplastic syndrome**
➡️ Occurs in ~10% of DS neonates
➡️ Features: high leukocytes, blasts, anemia, thrombocytopenia, hepatosplenomegaly
✅ **Resolves spontaneously** within days to weeks
208
**A 2-week-old neonate with Down syndrome presents with high leukocyte count, blasts, anemia, thrombocytopenia, and hepatosplenomegaly. What is the likely diagnosis** ⁉️
A. Acute lymphoblastic leukemia
B. Transient leukemia (myelodysplastic syndrome)
C. Chronic myelogenous leukemia
D. Infectious mononucleosis
👏
**B. Transient leukemia (myelodysplastic syndrome)**
## footnote
🧠 Common in neonates with DS and often resolves spontaneously
209
**What are the biopsy (excisional) criteria for evaluating lymphadenopathy** ⁉️
🔷 **Size** : > 2 cm
🔷 **Duration** : Enlarging over 2 weeks or no decrease after 4 weeks
🔷 **Location** : Supraclavicular
🔷 **Consistency** : **Hard**
##Footnote
⚠️ Associated features:
➡️ Abnormal chest X-ray
➡️ Weight loss
➡️ Hepatosplenomegaly
210
**What are common causes of painless vs painful lymphadenopathy** ⁉️
🔻 **Painless** :
➡️ Lymphoma
➡️ Metastatic carcinoma
🔻 **Painful** :
➡️ Acute infection
##Footenote
💡 Pain can guide differential diagnosis
211
**What is the appropriate management when lymphadenopathy cause remains unexplained but benign features are likely** ⁉️
✅ **Observe and follow-up in 3–4 weeks**
➡️ If **high probability of benign disease**
## Footnote
🧠 Helps avoid unnecessary invasive procedures
212
**Which of the following lymph node features warrants excisional biopsy** ⁉️
A. 1.5 cm in size, soft, and improving in 1 week
B. 2.5 cm, painless, supraclavicular, hard, present for 3 weeks
C. Axillary node 1.8 cm, tender, resolving with antibiotics
D. 1 cm inguinal node, no systemic symptoms
👏
**B. 2.5 cm, painless, supraclavicular, hard, present for 3 weeks**
## footnote
🧠 Meets size, location, consistency, and duration criteria for biopsy
213
**What is the age distribution of Hodgkin Disease** ⁉️
🔷 **Rare in children <10 years**
📈 Represents 15% of cancers in ages **15–19**
📊 **Bimodal peaks** :
➡️ 15–35 years
➡️ >55 years
214
**What infectious agents are associated with Hodgkin Disease** ⁉️
⚠️ **Epstein-Barr Virus (EBV)**
⚠️ Human Herpesvirus 6 (HHV6)
⚠️ Cytomegalovirus (CMV)
## Footnote
🧠 May play a role in pathogenesis
215
**What is the histologic hallmark of Hodgkin Disease** ⁉️
🔬 **Reed-Sternberg cells**
✅ Large, abnormal B cells with “owl eye” nuclei
216
**What are the key clinical features of Hodgkin Disease** ⁉️
🔻 **Painless lymphadenopathy**
🚨 Airway obstruction
🚨 Pericardial dysfunction
🚨 Hepatocellular dysfunction
🚨 Bone marrow infiltration
🔥 **B symptoms** :
▪️ Fever >39°C
▪️ Weight loss >10% body weight
▪️ Night sweats
217
**What are poor prognostic features in Hodgkin Disease**⁉️
🚨 **Bulky tumor**
🚨 **Advanced stage at diagnosis**
🚨 Presence of **B symptoms**
218
**Which of the following is a poor prognostic factor in Hodgkin Disease** ⁉️
A. Fever of 38.2°C
B. Localized lymphadenopathy
C. Absence of systemic symptoms
D. Bulky mediastinal mass
👏
**D. Bulky mediastinal mass**
##footnote
🧠 Bulky tumors and B symptoms indicate worse prognosis
219
**What is the most common type of lymphoma in children** ⁉️
✅ **Non-Hodgkin Lymphoma (NHL)** – accounts for 60% of childhood lymphomas
##Footnote
🧠 Most common subtype: **Burkitt lymphoma**
220
**What genetic abnormality is associated with Burkitt lymphoma**⁉️
🔁 **t(8;14)** translocation
📈 Leads to **overexpression of c-myc oncogene**
##Footnote
🧠 Drives rapid cellular proliferation
221
**What are the key clinical presentations of pediatric NHL** ⁉️
⚠️ Rapidly growing tumors with site-specific symptoms:
➡️ **SVC syndrome** → chest involvement
➡️ **Intestinal obstruction** → abdominal mass
➡️ **Paraplegia** → spinal cord compression
222
**What is tumor lysis syndrome and what are its key lab findings** ⁉️
🚨 Emergency due to rapid tumor breakdown:
📈 **Hyperkalemia, hyperuricemia, hyperphosphatemia**
📉 **Hypocalcemia**
##Footnote
🧠 Can cause renal failure and arrhythmias
223
**What are the essential investigations for diagnosing NHL** ⁉️
📷 Chest X-ray
📷 CT abdomen & pelvis
🧪 CBC, CMP, Mg, PO4, uric acid, LDH
🧪 **EBV testing**
🔬 **Biopsy** ➡️ “Starry sky” appearance in Burkitt lymphoma
224
**What causes the “starry sky” appearance in Burkitt lymphoma biopsy** ⁉️
🔬 **Macrophages phagocytosing apoptotic Burkitt cells**
🌌 Stars = macrophages; Sky = dark lymphoma background
##footnote
💡 Seen in rapidly proliferating tumors
225
**What is the standard treatment and prognosis for pediatric NHL** ⁉️
💊 **Chemotherapy**
✅ **Excellent prognosis** in children with localized disease
📈 Survival rate: **90–100%**
226
**A child presents with abdominal mass, hyperkalemia, hypocalcemia, and biopsy showing starry sky pattern. What is the most likely diagnosis** ⁉️
A. Acute lymphoblastic leukemia
B. Hodgkin lymphoma
C. Burkitt lymphoma
D. Chronic lymphocytic leukemia
👏
**C. Burkitt lymphoma**
##Footnote
🧠 Classic features: abdominal mass, tumor lysis, starry sky biopsy
227
**What is the most common malignancy diagnosed in infants under 1 year** ⁉️
✅ **Neuroblastoma**
## footnote
🧠 Originates from neural crest cells; most common solid tumor in infancy
228
**What are the typical clinical features of neuroblastoma** ⁉️
🚨 **Fever, bone pain, cytopenias, failure to thrive**
🚨 **Periorbital ecchymosis** (“raccoon eyes”), **proptosis**
➡️ **Horner’s syndrome** : ptosis, miosis, anhidrosis (from cervical ganglion involvement)
##footnote
💡 May mimic metastatic disease
229
**What paraneoplastic neurologic syndrome is associated with neuroblastoma** ⁉️
⚠️ **Opsoclonus-myoclonus-ataxia syndrome**
➡️ Jerky eye and limb movements
➡️ Cognitive decline
➡️ Impaired coordination
##footnote
🧠 Immune-mediated
230
**What investigations help confirm the diagnosis of neuroblastoma** ⁉️
📷 **CT or MRI** to localize tumor
🔬 **Rosette cells** in bone marrow aspirate
🧪 **Elevated VMA (vanillylmandelic acid)** and **HMA (homovanillic acid)** in urine
231
**What is the treatment approach for neuroblastoma** ⁉️
💊 Depends on stage and spread
➡️ Combination of **surgery** and **chemotherapy**
## footnote
🧠 Multimodal therapy improves survival
232
**A 10-month-old presents with periorbital ecchymosis, fever, and jerky eye movements. Urine shows elevated VMA. What is the diagnosis** ⁉️
A. Wilms tumor
B. Acute lymphoblastic leukemia
C. Neuroblastoma
D. Retinoblastoma
👏
**C. Neuroblastoma**
##Footnote
🧠 Classic signs: raccoon eyes, opsoclonus-myoclonus, elevated catecholamine metabolites
233
**What is the most common presenting feature of Wilms tumor** ⁉️
🔷 **Painless abdominal mass**
## footnote
🧠 Often discovered incidentally during bathing or dressing
234
**What additional clinical signs may accompany Wilms tumor** ⁉️
🔻 **Hematuria**
🔻 **Hypertension** (due to renin secretion)
🔻 **Hemihypertrophy** (asymmetry of body sides)
## footnote
🧠 Monitor blood pressure and renal function
235
**What genetic syndrome is Wilms tumor associated with** ⁉️
⚠️ **Beckwith-Wiedemann syndrome**
##footnote
🧠 Overgrowth syndrome with increased risk of embryonal tumors
236
**A child presents with a large, painless abdominal mass and hematuria. There is a history of hemihypertrophy. What is the likely diagnosis** ⁉️
A. Neuroblastoma
B. Wilms tumor
C. Hepatoblastoma
D. Hydronephrosis
👏
**B. Wilms tumor**
## footnote
🧠 Classic triad: abdominal mass, hematuria, hypertension—with syndromic associations
237
**What is the most common primary malignant bone tumor and what is its age distribution** ⁉️
✅ **Osteosarcoma**
📊 **Bimodal** :
🔹 Children/adolescents → **metaphysis** (growth plates)
🔹 Adults → at **damaged bone** (Paget disease, irradiation, prior tumors)
238
**What is the second most common primary bone cancer in children and where does it typically occur** ⁉️
✅ **Ewing sarcoma**
📍 Affects **diaphysis** (shaft of long bones)
📈 Common in **children and adolescents**
239
**What genetic abnormality is associated with Ewing sarcoma** ⁉️
🔁 **t(11;22)** translocation
##footnote
🧠 Helps confirm diagnosis with molecular studies
240
**What are the clinical features of Ewing sarcoma** ⁉️
🚨 **Tender soft tissue mass**
➡️ Pain, swelling
➡️ Systemic symptoms (fever, weight loss) in 20%
##footnote
🧠 May mimic infection or inflammation
241
**What are the classic radiographic signs seen in osteosarcoma and Ewing sarcoma** ⁉️
🔺 **Codman triangle** (Osteosarcoma): new bone forms as periosteum lifts
➡️ **Onion skin** (Ewing sarcoma): multiple layers of periosteal reaction
🧠 Suggests aggressive periosteal response
242
**What imaging studies are used for staging and metastasis evaluation in bone tumors** ⁉️
📷 **MRI** → best for local staging and biopsy planning
📷 **CT chest** → evaluates lung metastases
📍 Consider **bone scan** or **PET-CT** for systemic staging
243
**What is the standard treatment approach for primary malignant bone tumors** ⁉️
✅ **Biopsy + Chemotherapy ± Radiotherapy**
##footnote
🧠 Surgery planned after staging and histologic confirmation
244
**A 12-year-old presents with bone pain, fever, and a diaphyseal lesion with onion-skin appearance. What is the likely diagnosis** ⁉️
A. Osteosarcoma
B. Ewing sarcoma
C. Osteoid osteoma
D. Multiple myeloma
👏
**B. Ewing sarcoma**
##footnote
🧠 Onion-skin periosteal reaction and t(11;22) support the diagnosis
245
**What are classic symptoms of a posterior fossa brain tumor in children** ⁉️
🚨 **Morning vomiting, occipital headache**
🚨 **Gait disturbance, new head tilt or torticollis**
##footnote
🧠 Suggests raised intracranial pressure and cerebellar involvement
246
**What neurological signs are commonly seen in cerebellar or brainstem tumors** ⁉️
🔻 **Ataxia, dysmetria, nystagmus**
🔻 **Dysconjugate gaze, hemifacial weakness, hemiparesis**
🔻 **Horner syndrome** (ipsilateral ptosis, miosis, anhidrosis)
247
**What percentage of pediatric brain tumors are infratentorial vs supratentorial** ⁉️
📉 **Infratentorial** : 60%
📈 **Supratentorial** : 40%
##Footnote
🧠 Location impacts symptoms and tumor type
248
**What are the most common types of brain tumors by location in children** ⁉️
🔹 **Supratentorial** :
▪️ Astrocytoma
▪️ Medulloblastoma
▪️ Ependymoma
▪️ Brainstem glioma
🔹 **Infratentorial** :
▪️ Astrocytoma
▪️ Ependymoma
▪️ Teratoma
▪️ PNET (Primitive Neuroectodermal Tumor)
249
**What is the most common glioma in children and adults** ⁉️
✅ **Children** : Juvenile **pilocytic astrocytoma**
✅ **Adults** : **Glioblastoma multiforme**
## Footnote
🧠 Age-based glioma prevalence
250
**What are gliomas and which cells give rise to them** ⁉️
🔷 **Gliomas** arise from glial cells:
➡️ **Astrocytes** ➡️ Astrocytoma, Glioblastoma
➡️ **Oligodendrocytes** ➡️ Oligodendroglioma
➡️ **Ependymal cells** ➡️ Ependymoma
##Footnote
🧠 Each glial type gives rise to different gliomas
251
**What are the main non-glioma brain tumors** ⁉️
🔸 **Meningioma**
🔸 **Medulloblastoma**
🔸 **Primary CNS lymphoma**
## footnote
🧠 These originate outside the glial lineage
252
**A child presents with morning vomiting, new head tilt, and ataxia. MRI shows an infratentorial mass. What is the likely diagnosis** ⁉️
A. Meningioma
B. Juvenile pilocytic astrocytoma
C. Glioblastoma multiforme
D. Supratentorial ependymoma
👏
**B. Juvenile pilocytic astrocytoma**
##Footnote
🧠 Most common glioma in children, typically infratentorial
253
**What is the typical location and structure of craniopharyngioma** ⁉️
📍 **Suprasellar region**
🔷 Has **solid and cystic components**
🧠 Compresses the **optic chiasm**
254
**What percentage of childhood brain tumors are craniopharyngiomas** ⁉️
📊 **1–10%** of childhood brain tumors
## footnote
🧠 Rare but important due to location and symptoms
255
**What causes the headaches in craniopharyngioma patients** ⁉️
🚨 **Obstruction of cerebrospinal fluid (CSF)** pathways:
➡️ **3rd ventricle, foramen of Monro**
➡️ Leads to **hydrocephalus** and **increased intracranial pressure (ICP)**
256
**What are the common endocrine dysfunctions seen in craniopharyngioma** ⁉️
⚠️ Occurs in 66–90% of cases
🔻 **Short stature**
🔻 **Hypothyroidism**
##footnote
🧠 Due to pituitary/hypothalamic involvement
257
**What visual disturbance is classically associated with craniopharyngioma** ⁉️
🔍 **Bitemporal hemianopsia**
➡️ Loss of outer half of vision in both eyes
##footnote
🧠 Due to compression of the **optic chiasm**
258
**A child with short stature, hypothyroidism, and bitemporal hemianopsia is found to have a suprasellar mass with cystic and solid parts. What is the most likely diagnosis** ⁉️
A. Pituitary adenoma
B. Ependymoma
C. Craniopharyngioma
D. Optic glioma
👏
**C. Craniopharyngioma**
##footnote
🧠 Classic triad: endocrine dysfunction, visual loss, raised ICP
259
Excellent 👏
Thank you 💡
