Term
| May-Hegglin Anomaly: Etiology |
|
Definition
| Hereditary autosomal dominant trait disorder, patients tend to be asymptomatic but may develop bleeding tendencies. |
|
|
Term
| May-Hegglin Anomaly: Laboratory Features |
|
Definition
| Neutrophils have blue staining May-Hegglin inclusions (resemble Dohle bodies). Inclusions can also be found in monocytes. Thrombocytopenia with giant platelets. Abnormal, bizzarre appearing platelets. |
|
|
Term
| Alder-Reilly Anomaly: Etiology |
|
Definition
Inherited as an autosomal recessive trait.
Associated with disorders of mucopolysaccharides (lipids)
Hurler's syndrome
Hunter's syndrome
These disorders prevent normal breakdown of lipids. |
|
|
Term
| Alder-Reilly Anomaly: Lab Findings |
|
Definition
Granulocytes, lymphocytes, and monocytes have heavy azurophilic granulation.
Characterized by the presence of prominent, dark staining, coarse cytoplasmic granules that are made of mucopolysaccharide deposits, and may totally obscure the nucleus of the cells.
Granules resemble toxic granulation except; granules are larger, granules are permanent feature of the cell, granules present even without infection. |
|
|
Term
| Chediak-Higashi Syndrome: Etiology |
|
Definition
| Autosomal recessive trait caused by lysosome defect. Giant lysosomal granules produced in WBCs, cells cannot release their contents after bacterial digestion. |
|
|
Term
| Chediak-Higashi Syndrome: Symptoms |
|
Definition
| Albinism, Photophobia (sensitivity to light), Poor resistance to infection (death common in early childhood), Mild bleeding tendencies. |
|
|
Term
| Chediak-Higashi Syndrome: Lab Findings |
|
Definition
| Neutrophils show giant grey-green cytoplasmic granules. Lymphocytes and monocytes show single red granule in cytoplasm. |
|
|
Term
| Pelger-Huet Anomaly: Etiology |
|
Definition
Autosomal dominant trait
Results in abnormal maturation in neutrophil's nucleus.
Appears to function normally. |
|
|
Term
| Pelger-Huet Anomaly: Lab findings |
|
Definition
Decreased segmentation of the nucleus.
Nuclear chromatin coarse and condensed.
Majority of the neutrophils have bilobed nucleus that is dumbell shaped. |
|
|
Term
| Chronic Granullomatous Disease: Etiology |
|
Definition
Inherited primarily as a rare sex-linked recessive trait.
Seen primarily in males.
Generally fatal during early childhood due to recurring bacterial infections.
Due to defect in funtion, WBC unable unable to kill catalase-positive organisms. (Catalase neutralizes hydrogen peroxide, hydrogen peroxide assists in oxygen-dependent bacterial mechanisms) |
|
|
Term
| Chronic Granulomatous Disease: Lab findings. |
|
Definition
Normal WBC morphology
Number of WBCs increase during infection
Granulomas (granular tumor or growth) in many organs, sites of chronic infection. |
|
|
Term
| Gaucher's Disease: Etiology |
|
Definition
Results from deficiency of the enzyme beta-glucocerebrosidase.
Deficiency leads to accumlation of glucocerebrosides mostly in monocytes/macrophages (called Gaucher cells) Characterized by severe bone pain if bone is involved. |
|
|
Term
| Gaucher's Disease: Lab features |
|
Definition
CBC: Leukopenia & Thrombocytopenia
Hepatosplenomegaly
Bone marrow shows Gaucher cells, look like unfolded crumpled pieces of paper.
Increased serum acid phosphatase. |
|
|
Term
| Neimann-Pick Syndrome: Etiology |
|
Definition
Result of deficiency of the enzyme sphingomyelinase.
Leads to accumulation of sphingomyelin in histocytes. |
|
|
Term
| Niemann-Pick Syndrome: Symptoms |
|
Definition
Enlargement of liver and spleen
Abnormalities in: eyes, skin, nervous system |
|
|
Term
| Niemann-Pick Syndrome: Lab features |
|
Definition
Thrombocytopenia
Presence of sea-blue histocytes in bone marrow (diagnostic of the syndrome).
Cells stain a striking intense blue using Wright's stain or May-Grunwald stain.
Macrophages have globular cytoplasm (a cytoplasmic inclusion, likely from ingestion) |
|
|
Term
| Tay-Sachs Disease: Etiology |
|
Definition
Result of a deficiency of the enzyme hexaminosidase.
Enzyme deficiency tested prenatally.
Leads to accumulation of sphingolipids in lymphocytes |
|
|
Term
| Tay-Sachs Disease: Symptoms |
|
Definition
Deafness & Blindness
Macular cherry red spots on the eyes
Seizure
Death within a few years |
|
|
Term
| Tay-Sachs Disease: Lab findings |
|
Definition
CNS mostly affected
Vacuolated lymphocytes in peripheral blood
Vacuolated histocytes (foam cells) in bone marrow. |
|
|
Term
| Infectious Mono: Etiology |
|
Definition
| A benign illness caused by Epstein Barr Virus (EBV). The virus enters the body orally through the lymphoid tissues in the pharynx, infects the B-lymphocyte, runs its course and complete recovery usually occurs within 2 months. |
|
|
Term
| What ages are most cases of Infectious Mono seen? |
|
Definition
Children & Young adults.
Also seen in all races and in all parts of the world. |
|
|
Term
| What are the symptoms of Infectious Mono? |
|
Definition
| Fatigue, sore throat, difficulty swallowing (dysphagia), general malaise, enlargement of the lymph nodes, splenomegaly and hepatomegaly. |
|
|
Term
| Infectious Mono: Lab features |
|
Definition
Diagnostic laboratory features include the presence of atypical lymph, and positive monospot tes.
CBC: normal RBC and platelet counts, slightly increased WBC counts
Differential: absolute increase in lymphocytes (20-90% ATL)
Liver enzyme test (LFT) may be abnormal |
|
|
Term
| Leukemoid Reaction: Etiology |
|
Definition
A neutrophilic response to bacterial infection marked by accelerated release of neutrophils, accompanied by shift to the left
Presence of immature cells mimics the early stages of leukemia. |
|
|
Term
| Leukemoid Reaction: Lab findings |
|
Definition
Increased WBC count
Neutrophilia with morphologic signs of infection (shift to the left), presence of metamyelocytes, increased number of bands
WBC anomalies, toxic granulation, dohle bodies, and cytoplasmic vacuolization. |
|
|
Term
| Leukemoid Reaction mimics CML, how can you differentiate Leukemoid Reaction and CML? |
|
Definition
Eosinophilia, Basophilia, and Philadelphia Chromosome are absent in Leukemoid Reaction, but present in CML.
LAP is increased in LR and decreased in CML, and WBC for LR is 10-100, while WBC for CML is 30-500 |
|
|
