SNMIH
Department Of Pathology
CASE STUDY
SNMIH
A 5-year old boy presented with
Fever, weakness , bleeding from mouth & nose
Generalized lymphadenopathy
Hepatosplenomegaly
Laboratory Findings
Hemoglobin : 6.5 g/dL
TLC: 54 x 103 /µL
DLC: lymphoblast80 L12M4E4
Platelet Count : 34 x 103/µL
Bone Marrow Aspirate
Hypercellular, full of blast cells.
Sudan Black B & Myeloperoxidase staning: Negative in the blast cells.
Immunophenotyping: Monoclonial mature B-cell markers present.
Bone marrow Aspirate smears
Questions
1. Give your Diagnosis.
2. Give point s in Favour of your diagnosis.
An 8-Year old boy presented with
Severe anemia
Recurrent bouts of severe abdominal pain
Haematuria
Growth retardation
LABORATORY INVESTIGATIONS:
Haemoglobin: 4.0 g/dL
TLC: 11.0 x 103/µL
Platelet count: 212x 103/µL
Reticulocyte count: 12%
GBP
Anisopoikilocytosis of red cells
Elongated sickle like cells
Target cells
Polychromatic cells
Fragmented cells
PERIPHERAL BLOOD SMEAR:
Haemoglobin Electrophoresis: SS pattern
Questions
What is your diagnosis?
What is the genetic defect in this condition?
A 65-year old male presented with
Lethargy, weakness, easy fatigability
Generalized Lymphadenopathy
Hepatosplenomegaly
Laboratory Investigations
Haemoglobin : 10.0 g/dL
TLC: 120 x 103 /µL
Platelet count : 160 X 103 /µL
DLC: L85 N10 E3 M2
Smear cells (basket cells)present.
Immunophenotyping: Markers for CD19, CD20, CD23 & CD5 positive
Peripheral Blood Smear
QUESTIONS
Give your diagnosis ?
Give points in favour of your diagnosis ?
Enumerate three other causes of lymphocytosis ?
A 10-year old girl presented with
Severe anaemia
Koilonychia
Smooth and sore tongue
Laboratory Findings
Haemoglobin: 5.7g/dL
MCV: 65 fL
MCH: 15 pg
RDW: 20.6%
Platelet Count: 530 x 103 /µL
Serum Iron: 30 µg/dL
Serum TIBC : 500 µg/dL
Serum Ferritin: 4.8 µg/dL
Peripheral blood smear and red cell morphology
Questions:
Give your diagnosis ?
Give points in favour of your diagnosis ?
Name few other causes of microcytic hypochromatic anemia?
A 32- year old male presented with
Anemia
Fever
Splenomegly
Laboratory Investigations
Haemoglobin: 4.5 g/dL
TLC: 70 x 103/µL
Platelet Count: 80 x 103/µL
DLC:
Blasts: 25%
Prpmyelocytes: 05%
Myelocyte : 10%
Metamylocytes : 08%
Neutrophils: 32%
Lymphocytes: 20%
Sudan black B & Myeloperoxiase staining of the blat cells: Positive.
Bone marrow Aspirate smear
Questions
Give your diagnosis?
Give points in favour of your diagnosis?
A male child of 5 years age presened with the history of irregular fever,
sore throat, casy fatigulability, weight loss, generalized
lymphadenopathy and bleeding gums.
Blood Findings:
Hb%: 6.0 gms%
T.L.C: 30,000/cmm
DLC:
Lymphoblasts: 45%
Mature Lymphocytes: 45%
Neutrophils: 08%
Monocyte: 02%
R.B.C are normocytic with moderate degree of hypocromatic
,anisocytosis. Poikelocytosis with small number of nucleated cells(1%
of leukocyte)
Reticulocyte: 3%
Platelates: 40,000/cmm
GIVE YOUR DIAGNOSIS ?
A 15-year old boy presented with
Anemia
Recurrent jaundice
Hepatosplenomegaly
Gall stones
Family history confirme similsr disease in his father.
LABORATORY INVESTIGATIONS:
Haemoglobin: 6.0 g/dl
WBC :4.5X10/µL
Platelet count: 200 X 103 /µL
DLC: N40 L57 E1 M9
Reticulocyte count: 28%
GBP:
Densely haemoglobinized red cells (spherocytes)
Polychromatic cells
Basophilic stippling
Osmotic fragility of red cells: Increased
Coomb's test:
PERIPHERAL BLOOD SMEAR:
QUESTIONS:
What is your diagnosis?
What is the genetic defect in this condition?
A 22-year old old male presented with
Anaemia, anorexia, weight loss
Gastritis, diarrhea
Skin hyperpigmentation
LABORATORY INVESTIGATIONS:
Haemoglobin: 6.8g/dL
RBC count: 1.5 x 106/µL
MCV : 133 fL
MCHC: 30%
RDW: 18.5%
TLC: 1.8 x 103/µL
Platelet Count: 48 x 103/µL
Serum LDH: 8800 U/L
PERIPHERAL BLOOD & BONE MARROW SMEARS
Questions:
What is your diagnosis?
Give points in favour of your diagnosis?
What are the causes of this abnormality?
A young girls with history of cough and fever for six months. Presented
in the hospital with following complaints.
Severe headache for last 10 days and Boults of vomiting for about a
week.
Her C.S.F Examination revealed following abnormalities:
Appearance: Straw coloured
Sugar: 30mg/100 ml
Protein: 200mg/100 ml
Chloride: Lower side of normal range
Cells: 200 cells/cmm (mostly Lymphocytes)
GIVE YOUR DIAGNOSIS ?
A 35-year-old male presented with
Anaemia
Fever
Bleeding from nose
Petechial hemorrhages
LABORATORY INVESTIGATIONS:
Haemoglobin: 4.5g/dl
TLC: 80 x 103/µL
DLC:
Promyelocytes: 70%
Myelocyes: 10%
Neutrophils:10%
Lymphocytes: 10%
Platelet count:30 x 103/µL
Sudan Black B & Myeloperoxidase staining of the bone marrow blasts & promyelocytes: Strongly
positive.
Cytogenetic study: t(15;17)(q22;q12)
BONE MARROW ASPIRATE SMEARS:
QUESTIONS
What is your diagnosis?
Give points in favour of your diagnosis?
A 33-year-old male presented with insidious onset of
On and off fever, excessive sweating
Weight loss, fatigue, bone pains
Massive splenomegaly
Laboratory investigations
Haemoglobin: 8.0g/dL
TLC: 180 X 103 /µL
DLC:
Myeloblasts: 04%
Promyelocytes: 08%
Eosinophils: 07%
Neutrophils: 36%
Basophils: 08%
Myelocytes: 24%
Lymphocytes: 01%
Metamyelocytes: 12%
Platelet count: 550 x 103 /µL
LAP score: 2( normal: 40-100)
Cytogenetics: Philadelphia chromosome +
Molecular genetics: BCR-ABL fusion gene +
Peripheral blood smears:
Questions
Give your diagnosis?
Give points in favour of your diagnosis?
Name few other chronic myeloproliferative disorders?
A three year old child presenting with sever anaemia failure to
thrive, recurrent fever, jaundice and spelnomegly.
Blood Picture:
Hb% :4.0 gms%
I.R.C : 2.5 million/ cmm
PCV: 15%
MCV: 60fL
MCH: 16Pg
MCHC: 27%
Red cells are microcytic with marked hydrochromia and showing severe degree of
anisocytosis and Poikelycytosis. Besides these there are 30% Target cells and 5%
normoblasts. Red cells also shows Polychromasia and punctate basophili
TLC: 25,000/cmm
DLC:
Neutrophils: 75%
Metamyelocytes: 3%
Myelocytes: 2%
Lymphocytes: 15%
Monocytes : 5%
Platelets: 180,000/cmm
Osmotic fragility curve shows increased resistance to haemolysis
Serum bilirubin : 3mg%
Serum iron : 210 microgram %
GIVE YOUR DIAGNOSIS ?
A 45 years old male presented with anaemia and
massive splenomegly (upto umbillicus).
Blood Pictures:
Hb% : 10gm%
TLC : 150,000/cmm
DLC:
Myeloblast: 3%
Promyelocytes: 3%
Metamyelocytes: 16%
Myelocytes: 30%
Mature Neutrophils: 37%
Basophils: 6%
Lymphocytes: 5%
Red cells are Normocytic , Normochromic with occasional normoblast
Reticulocytes: 4%
Platelets: 4.5 lacks/cmm
GIVE YOUR DIAGNOSIS ?
A 60-year old male presentented with
Aneamia, fever, hepatosplenomegaly.
Laboratory Investigations
Haemoglobin :4.5 g/dl
TLC : 30 x 103 /µL
RBC count : 2.2 x 106 /µL
MCV : 94 fL
MCH : 31 pg
MCHC : 33g/dl
Platelet count: 20 X 103 /µL
Total nucleated cell count of peripheral blood :
Myeloblast 44 N 26 L20 Nucleated RBC10
Bone Marrow Aspirate
Hypercellular, M:E ratio: 1:2
Eryhropoiesis: Megalolastic ,features of dyserythropoiesis present.
Myelopoiesis: Blasts- 25%. Rest of the cells are normal.
Megakaryocyte seen occasionally.
Peripheral Blood & Bone Marrow Aspirate Smears.
Questions:
Give your diagnosis?
Give points in favour of your diagnosis?
A fourteen years old boy presented with discharge from
right ear for last one year. High grade fever and vomitting
for last two days.
His C.S.F examinations revealed following abnormalities:
1. Colour and transparency : Turbid – dirty white
2. Sugar : 10mg/100 ml
3. Protein: 120 mg/100 ml
4. Chloride : 600mg/ 100 ml
5. Cells : 500 cells/ cmm (mostly polymorphs)
GIVE YOUR DIAGNOSIS ?
A 60 years male preseted with the history of increasing
weakness and fatiguability and generalized Lymphadnopathy.
Blood Pictures:
TLC : 100,000/cmm
HB% : 11%
DLC
Mature lymphocytes – 90% (caintains small and large lymphocyte
with few ‘baket cells’ are seen)
Polymorphs – 10%
Red cells shows slight hypochromia with occasional normoblasts.
Platelets : 1.5 lacs/cmm
GIVE YOUR DIAGNOSIS ?
A 4-year old boy presented with
Anaemia , fever , bony & joint pains
Bleeding from nose & ecchymotic patches on the limbs
Cervical Lymphadenopathy
Hepatospleomegaly
LABORATORY INVESTIGATIONS:
Haemoglobin: 5.2 g/dL
TLC :70 X 103 /µL
Platelet Count : 43 X 103 /µL
DLC : Lymphoblasts 75 L20 N5
Bone marrow: Hypercellular ,full of small homogeneous blasts cells.
Sudan black & Myeloperoxidase staining of the blast cells: Negative
Immunophenotyping: CD10 (CALLA), CD19 , CD20, & CD79a positive
Cytogenetic Study: Hyperdiploidy (>50 chromosomes/cells), t(12:21) positive
BONE MARROW ASPIRATE SMEAR
QUESTIONS:
What is your diagnosis?
Give points in favour of your diagnosis ?
A 22-year old male presented with
Anaemia
Fever
Petechial haemorrhages
Laboratory Investigations
Haemoglobin: 4.5g/dL
TLC : 75 X 103 /µL
Platelet count :185 X 103 /µL
DLC:
Blasts: 42%
Neutrophils: 36%
Lymphocytes: 22%
Sudan Black B & Myeloperoxidase staining of the blast cells: Negative
Immunophenotyping: Blasts cells are CD41 & CD61 positive.
Platelate Peroxidase : positive
Bone Marrow Aspirate Smears
Questions
Give your diagnosis ?
Give points in favour of your diagnosis?
A 30-years male presented with the history of fever
,fatiguability, weight loss haemorhagic manifestation and
splenomegly (4 cms).
Blood Picture:
Hb% - 7.0 gms
T.L.C -40,000/cmm
D.L.C –
Myeloblast-- 45%
Myelocytes – 15%
Metamyelocytes – 5%
Promyelocytes—15%
Neutrophils- 15%
Lymphocytes-5%
Some of the blast cells contain auer Rods in their cytoplasm.
R.B.C are normocytic , hypochromic with anisocytosis.
Poikeiocytsis and occasional neucleated red cells.
Platelets – 50,000/cmm
GIVE YOUR DIAGNOSIS ?
A 44-year old male presented with
Anaemia
Fever
Bleeding gums
Hepatosplenomegly
Laboratory Investigations.
Haemoglobin: 4.5g/ dL
TLC: 60 X 103/µL
DLC:
Monoblasts: 50%
Neutrophils: 28%
Lymphocytes : 22%
Platelet count: 30 X 103 /µL
Sudan Black B & Myeloperoxidase staining of blast cells: Negative
Non specific esterase staining of the blast cells: Positive
Peripheral Blood & Bone Marrow Aspirate Smears
Questions:
Give your diagnosis?
Give points in favour of your diagnosis?