pancytopenia among pediatric pateint

Abbas Wael Abbas Supervisor: Dr. Sultan Musleh

Pancytopenia is a reduction in the number of 2 or more ▪ RBCs, ▪ WBCs and,▪ platelets

in the peripheral blood below the lower limits of the age-

adjusted normal range for healthy people.

Therefore it is the combination of anemia, leukopenia, and thrombocytopenia :-

It may result from decreased production of blood cells or

bone marrow failure, immune-mediated destruction non-immune-mediated sequestration in

the periphery, Deficiency of factors stimulating

haematopoiesis

• The diagnosis is made from the results of CBC,

Congenital

Fanconi’s Anemia

Shwachman-Diamond syndrome

Congenital aplastic anemia Etiology. autosomal recessive, defect in

proteins involved in DNA repair Clinical features▪ bone marrow failure occurs at a mean age of

7 years. Typical presentation is with ecchymosis and petechiae.▪ Skeletal abnormalities; short stature in almost

all patients, and absence or hypoplasia of the thumb and radius, microcephaly

▪ Skin hyperpigmentation, café au lait spots

▪ Renal abnormalities; horseshoe or absent kidney

▪ 10% of cases transform to luekemia

pancytopenia, RBC macrocytosis, low reticulocyte count, elevated Hgb F, and bone marrow hypocellularity

The diagnosis is based on demonstration of increased chromosomal breakage after exposure to agents that damage DNA

transfusions of RBCs and platelets as needed

bone marrow transplant from an HLA-compatible donor

Corticosteroids

Androgenic therapy; 20% of cases

Autosomal recessive

clinical feature: malabsorption, short stature caused by

metaphyseal chondrodysplasia, marrow failure and neutropenia. recurrent infections

▫Mechanism : Decreased Marrow Production• Conditions ▫Cytotoxic Chemotherapy▫Radiation Therapy▫Megaloblastic anemia▫Bone Marrow Infiltration▫Viral Infections like CMV, EBV, HIV▫Hypersplenism▫ Idiopathic Aplastic Anemia▫SLE, RA

أول العلم الصمت والثاني حسن اإلستماعوالثالث حفظه والرابع العمل به والخامس نشره

مصطفى لطفي المنفلوطي

History Clinical ExaminationCBCPeripheral smear examinationBone Marrow AspirationBone Marrow BiopsyOther specific investigations

Duration of symptoms H/o Transfusions H/o Haemoglobinuria Dietary history Family history Exposure to –

Drugs ( sulfonamide, anticonvulsant, chloramphenicole) Chemicals Radiation Infections

Weight loss, fever – malignancy & inflammatory Jaundice – Hep B & C Joint Pain – SLE Blood Loss

• A thorough physical exam is required, preferably by a haematologist.

• Skin; petechiae, and purpura, hyperpigmintation

• Lymphadenopathy

• splenomegaly.

The following reference points to specific organ systems and associated conditions and is helpful to guide the examination.

• Eye examination▫ Jaundiced sclera (paroxysmal nocturnal hemoglobinuria,

hepatitis, cirrhosis)▫ Epiphora (dyskeratosis congenita)

• Oral examination▫ Stomatitis or cheilitis (neutropenia, vitamin B12 deficiency)▫ Gingival hyperplasia (leukemia)▫ Oral candidiasis or pharyngeal exudate (neutropenia, herpes

family virus infections)

• Cardiovascular examination▫ Tachycardia, edema, congestive cardiac failure▫ Exercise intolerance ▫ Systolic flow murmur ▫ Tachypnea (sign of symptomatic anemia)

• Abdominal examination▫ Right upper quadrant tenderness (hepatitis)

• Musculoskeletal examination▫ Short stature (Fanconi anemia, other congenital syndromes)▫ Swelling/synovitis (SLE)▫ Abnormal thumbs (e.g., Fanconi anemia)

• A CBC and examination of peripheral blood film by a hematologist are essential. A standard battery of evaluative tests may include:▫ Serum reticulocyte count▫ Serum LFTs ▫ Hepatic serology▫ Serum coagulation profile, bleeding time, fibrinogen, and D-

dimer▫ Coombs test ▫ Serum B12 and folate▫ Serum HIV and nucleic acid testing.

Red Cell Morphology Normocytic normochromic with no anisopoikilocytosis, – Aplastic anemia Macro ovalocytes with Howell Jolly Bodies – Megaloblastic anemias Macrocytic – Fanconi anemia WBCs Leucopenia (mostly mature ~80%) – Aplastic anemia Neutrophils present in increased number with toxic granules, shift to left –

Infections hypersegmented neutrophils – Megaloblastic anemia Blasts –leukemiaPlatelets Giant platelets – MDS/ Hypersplenism

Aspiration and biopsy Hypocellular

Cellular

Bone marrow filtration

thank you