PEDIATRIC BONE MARROW FAILURE

BONE MARROW FAILURE:

A.     Tri-lineage failure:

Criteria:

1.       Failure of the 3 cell lines with pancytopenia

2.       No organomegaly or lymphadenopathy.

Causes:

a. Congenital

1. Fanconi anemia

2. Familial aplastic anemia

3. Dyskeratosis congenital; Ectodermal dysplasia with:

Skin pigmentation

Mucous membrane leukoplakia

Nail dystrophy

Others: short stature, cataract, mental retardation

b. Acquired

1. Idiopathic

2. Secondary

B. One cell line failure:

Red Cells (hypoplastic anemia; pure red cell anemia)

a. Congenital

1.       Diamond Blackfan anemia

2.       Congenital dyserythropoietic anemia

3.      Pearson's Syndrome

b. Acquired

1.       Idiopathic: transient erythroblastopenia of childhood

2.       Secondary: to Drugs, Infections, Parvo B19, Malnutrition

White Cells

A.     Schwashman Diamond syndrome: pancreatic insufficiency, metaphyseal dysplasia

B.      Kostmann disease (severe congenital neutropenia)

C.      Reticular dysgenesis

Platelets

A.     Congenital amegakaryocytic thrombocytopenia

B.      TAR syndrome (thrombocytopenia absent radii syndrome)

N.B: Dyserythropoiesis (ineffective erythropoiesis).

A.     Primary (congenital dyserythropoietic anemia).

B.      Secondary dyserythropoiesis:

1.       Megaloblastic anemia (folic acid, or vitamin B12 deficiency).

2.       Thalassemia syndromes.

3.      Sideroblastic anemia.

4.      Paroxysmal nocturnal hemoglobinuria