Infant with anemia, poor growth and bleeding from nose was brought to emergency. On examination hepatosplenomegaly was noted, and serum chitotriosidase levels are elevated. Bone marrow examination was done. Diagnosis is:

The vacutainer shown below is used for collecting sample for? (AIIMS Nov 2017)

Identify the tissue:

The image shows presence of:

The image shows: (Recent NEET Pattern 2016-17)

The image shows ESR being evaluated. What anticoagulant is typically used for ESR evaluation?

The image provided shows a gel electrophoresis result. What plasma protein component is typically indicated by a broad band in this technique?

The image shows which cells?

A 7-year-old boy presents with swelling of cheek for 2 months. Biopsy from the lesions shows presence of:

The following presentation can be seen in:

Explanation: ***Gaucher disease type 1*** - **Anemia**, **poor growth**, **bleeding from nose** (due to thrombocytopenia), and **hepatosplenomegaly** are classic features of Gaucher disease [1]. - **Elevated serum chitotriosidase** is a highly sensitive and specific biomarker for Gaucher disease, and bone marrow examination would reveal **Gaucher cells** (lipid-laden macrophages) [1]. *Metachromatic leukodystrophy* - This is a **lysosomal storage disorder** primarily affecting the **nervous system**, leading to demyelination. - It typically presents with neurological symptoms like developmental regression, ataxia, and spasticity, not primarily hematological or visceral involvement. *Neuronal ceroid lipofuscinosis* - This is a group of **neurodegenerative disorders** characterized by the accumulation of lipopigments in neurons and other cells. - Clinical features include progressive intellectual decline, seizures, visual impairment, and motor dysfunction, without significant hepatosplenomegaly or bleeding diathesis. *Gaucher disease type 2* - While also a type of Gaucher disease, **Type 2 (neuronopathic)** is characterized by severe, rapidly progressive neurological involvement in infancy. - Although it shares features like hepatosplenomegaly, the prominent neurological symptoms and rapid deterioration are key differentiating factors not explicitly mentioned as primary complaints here. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 162-163.
Explanation: ***Serum electrolytes*** - The image shows a **green-top vacutainer**, which typically contains **lithium heparin** as an anticoagulant. - **Lithium heparin** is the preferred anticoagulant for collecting samples for **serum electrolyte** measurements, as it does not interfere with the analysis of ions like sodium, potassium, and chloride. *Serum lactate* - Serum lactate measurements usually require a **gray-top tube** containing **sodium fluoride** and **potassium oxalate** to inhibit glycolysis and stabilize lactate levels. - A green-top tube with lithium heparin is not ideal for lactate analysis due to continued glycolysis in the absence of a glycolysis inhibitor. *Serum cholesterol* - Serum cholesterol, along with other lipid profiles, is typically collected in a **red-top tube** (no additive) or a **SST (serum separator tube)**, which has a gel barrier. - While cholesterol can be measured from a heparinized plasma sample, a plain red-top or SST is more commonly used for routine lipid panels. *Serum uric acid* - Serum uric acid measurement can be performed on a sample collected in a **red-top tube** (no additive) or a **SST (serum separator tube)**. - Although lithium heparin tubes can sometimes be used, plain serum tubes are generally preferred as they yield serum directly without an anticoagulant. *Coagulation studies* - Coagulation studies (PT, PTT, INR) require a **blue-top tube** containing **sodium citrate** as the anticoagulant. - The citrate-to-blood ratio must be precise (1:9) for accurate coagulation testing, making the blue-top tube specifically designed for this purpose. - A green-top tube with heparin cannot be used for coagulation studies as heparin itself is an anticoagulant that would interfere with the test results.
Explanation: ***Thymus*** - The presence of a **cortex** and **medulla**, along with **Hassall's corpuscles** (epithelial reticular cells arranged concentrically), is characteristic of the thymus [1]. - The thymus is responsible for **T-cell maturation** and selection [1]. *Lymph node* - Lymph nodes typically show a distinct **cortex** with lymphoid follicles (B-cell areas) and a **paracortex** (T-cell area), but lack Hassall's corpuscles. - They function in **filtering lymph** and initiating immune responses. *Tonsil* - Tonsils are characterized by **crypts** lined by stratified squamous epithelium and prominent **lymphoid follicles** beneath the epithelium, which are not the primary features here. - They are part of the **Waldeyer's ring** and serve as a first line of defense against inhaled and ingested pathogens. *Spleen* - The spleen has distinct **red pulp** (involved in filtering blood and removing old red blood cells) and **white pulp** (lymphoid areas with periarteriolar lymphoid sheaths and follicles), but does not contain Hassall's corpuscles. - It is a major site for **immune surveillance** and blood filtration. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 634.
Explanation: ***Cardiac muscle*** - The image displays **striations** inherent to muscle tissue, characteristic of both skeletal and cardiac muscle. However, the presence of **branched fibers** and **intercalated discs** (visible as darker, irregular lines connecting cells, though sometimes subtle) confirms it as cardiac muscle. - Cardiac muscle cells are typically **uninucleated** or **binucleated** and have centrally located nuclei, which is consistent with the appearance in the micrograph. *Skeletal muscle* - While skeletal muscle also exhibits **striations**, its fibers are **long, unbranched**, and parallel. - Skeletal muscle cells are typically **multinucleated** with peripherally located nuclei. *Smooth muscle* - Smooth muscle lacks **striations** and is characterized by spindle-shaped cells with a single, centrally located nucleus. - Its contractions are involuntary and often slow and sustained. *Dense connective tissue* - Dense connective tissue is composed of **collagen fibers** arranged in parallel bundles with scattered fibroblasts. - It lacks the **striations** and **branching pattern** characteristic of cardiac muscle. *Compact bone* - Compact bone tissue is composed of **osteons** with central Haversian canals surrounded by concentric lamellae. - It would appear as a rigid matrix with lacunae containing osteocytes, which is distinctly different from the muscular tissue shown.
Explanation: ***Pelger-Huet anomaly*** - The image shows a **neutrophil** with a **bilobed nucleus** (pince-nez appearance) and unusually **coarse chromatin**, which is characteristic of the Pelger-Huët anomaly. - This is a harmless inherited condition where neutrophils fail to segment properly, but their function remains normal. *Golgi body* - The Golgi body (or Golgi apparatus) is an **organelle** found in most eukaryotic cells that is involved in packaging proteins and lipids into vesicles. - It is an intracellular structure and not typically visible as a distinct feature like the one pointed to in a peripheral blood smear. *Barr body* - A Barr body is an **inactivated X chromosome** found in the somatic cells of females. - It appears as a small, dense, dark-staining structure in the periphery of the nucleus, and while it can be confused with a drumstick appendage, the shape in the image is not typical for a Barr body. *Davidson body* - A Davidson body (or drumstick) is a small **drumstick-shaped nuclear appendage** found on the neutrophils of some females, representing the inactive X chromosome. - While it is a nuclear appendage, the structure in the image is more consistent with the characteristic bilobed nucleus of Pelger-Huët anomaly rather than a distinct drumstick appendage. *Döhle bodies* - Döhle bodies are **cytoplasmic inclusions** that appear as pale blue-gray patches in the cytoplasm of neutrophils, representing aggregates of rough endoplasmic reticulum. - They are seen in infections, burns, pregnancy, and toxic states, but the finding in the image is a **nuclear abnormality**, not a cytoplasmic inclusion.
Explanation: ***EDTA*** - **EDTA (ethylenediaminetetraacetic acid)** is an acceptable anticoagulant for ESR evaluation using automated methods - It prevents clotting by **chelating calcium ions** required for coagulation - The image lists **EDTA** alongside double oxalate as suitable for anticoagulated blood in ESR evaluation - EDTA tubes are widely available and commonly used in clinical laboratories for multiple hematology tests including ESR *Sodium citrate* - While sodium citrate (3.8% or 3.2%) is the **gold standard for manual Westergren method** ESR - The question specifically asks about the anticoagulant shown in the image, which indicates EDTA - Citrate is preferred for traditional ESR methods but requires specific dilution ratios *Heparin* - **Not recommended** for ESR evaluation - Causes **red blood cell aggregation** which can interfere with accurate ESR measurement - May produce falsely elevated or inconsistent results *Double oxalate* - Historically used for ESR (mentioned in the image) - Contains a mixture of **potassium and ammonium oxalate** in specific proportions - Less commonly used in modern laboratories compared to EDTA or citrate - Can preserve red cell morphology but has largely been replaced by EDTA *Sodium fluoride* - Primarily used as an **antiglycolytic agent** for glucose preservation - **Not suitable for ESR** evaluation - Used mainly for blood glucose specimens, not hematological testing
Explanation: ***Gamma globulin*** - In serum protein electrophoresis, **gamma globulins** typically appear as a **broad, diffuse band** due to the heterogeneity of antibodies present in the plasma. - This region is composed of a wide variety of immunoglobulins (IgG, IgA, IgM, IgD, IgE), each with slightly different charge and size, leading to a spread-out appearance on the gel. - The polyclonal nature of normal antibody production results in this characteristic broad band in the gamma region. *Albumin* - Albumin appears as a **sharp, narrow band** in serum protein electrophoresis, typically the largest single peak. - It is a homogeneous protein with consistent molecular weight and charge, producing a tight, well-defined band. - Located in the fastest-migrating region due to its high negative charge at alkaline pH. *Alpha-1 globulin* - This fraction produces a **relatively narrow band** containing proteins like alpha-1 antitrypsin and alpha-1 acid glycoprotein. - Not characteristically broad because it contains fewer protein species compared to gamma globulins. - Migrates between albumin and alpha-2 globulin regions. *Alpha-2 globulin* - Contains haptoglobin, alpha-2 macroglobulin, and ceruloplasmin, producing a **moderately defined band**. - While it contains multiple proteins, it does not show the broad, diffuse pattern characteristic of gamma globulins. - The protein heterogeneity is much less than in the immunoglobulin region. *Beta globulin* - Contains transferrin, complement components, and beta-lipoproteins, producing a **relatively discrete band**. - May sometimes show slight broadening but not as pronounced as gamma globulins. - Does not exhibit the characteristic broad, polyclonal pattern seen in the gamma region.
Explanation: ***Reticulocytes*** - The image displays red blood cells with a **reticular bluish network** in their cytoplasm, which is characteristic of **reticulocytes** stained with a supra-vital stain like new methylene blue. - This reticular material consists of **ribosomal RNA** and mitochondria, representing immature red blood cells still synthesizing hemoglobin. *Heinz bodies* - Heinz bodies are aggregates of **denatured hemoglobin** that appear as small, round inclusions near the cell membrane, visible with crystal violet stain. - They are typically associated with **oxidative stress** or unstable hemoglobin, and do not show the diffuse reticular pattern seen here. *Plasma cell* - Plasma cells are **B lymphocytes** that differentiate to produce antibodies and are much larger than red blood cells. - They have an **eccentric nucleus**, abundant basophilic cytoplasm, and a **perinuclear halo**, none of which are evident in the image. *Dohle bodies* - Dohle bodies are **pale blue-grey inclusions** in the cytoplasm of neutrophils, composed of rough endoplasmic reticulum. - They are usually associated with **severe infections, burns, or toxic states**, and are not found in red blood cells. *Howell-Jolly bodies* - Howell-Jolly bodies are **small, round, purple-blue nuclear remnants** (DNA fragments) seen in red blood cells, typically appearing as single, discrete inclusions. - They are commonly found in **asplenia or hyposplenia** and appear as distinct dots, not the diffuse reticular network characteristic of reticulocytes.
Explanation: ***Burkitt lymphoma*** - **Endemic Burkitt lymphoma** commonly presents as a **jaw mass** or facial swelling in children, particularly in Africa [1]. - The characteristic histological finding is a **"starry sky" appearance** due to scattered macrophages amidst a uniform population of medium-sized lymphocytes [2]. *Mycosis fungoides* - This is a **cutaneous T-cell lymphoma** primarily affecting the skin, presenting with patches, plaques, or tumors [3]. - It typically occurs in **adults** and rarely presents as a primary cheek swelling in a child [3]. *Hodgkin's lymphoma* - Hodgkin's lymphoma usually presents with **painless lymphadenopathy**, most commonly in the cervical region. - While it can occur in children, **extranodal involvement** like a primary cheek mass is uncommon, and the histology shows **Reed-Sternberg cells**. *Chipmunk facies* - **Chipmunk facies** is a clinical sign characterized by prominent cheekbones and maxilla, often seen in conditions like **thalassemia major** due to marrow expansion. - It is a **clinical description**, not a diagnosis based on biopsy findings of a tumor. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 605-606. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, p. 606. [3] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Diseases Of The Urinary And Male Genital Tracts, pp. 564-565.
Explanation: ***Acute monocytic leukemia*** - This type of leukemia is characterized by the proliferation of **monoblasts** and **promonocytes**. - It often presents with **gingival hypertrophy**, skin infiltration, and extramedullary involvement due to the migratory nature of monocytes. *Acute megakaryocytic leukemia* - This leukemia is associated with the proliferation of **megakaryoblasts**. - It is often seen in children with **Down syndrome** and typically presents with **myelofibrosis** and pancytopenia, not gingival hypertrophy. *B cell, acute lymphoblastic leukemia* - This is a common childhood leukemia characterized by the proliferation of **B-lymphoblasts**. - While it can cause generalized lymphadenopathy and hepatosplenomegaly, **gingival hypertrophy** is not a typical presenting feature. *T cell acute lymphoblastic leukemia* - This leukemia involves the proliferation of **T-lymphoblasts**. - It commonly presents with a **mediastinal mass** (thymic involvement) and can cause superior vena cava syndrome, but not typically gingival hypertrophy [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 599-600.
Red blood cell disorders
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White blood cell disorders
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Acute leukemias
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