Peds diseases Flashcards
1
Q
Diamond Blackfan Syndrome
A
- macrocytic anemia
- low reticulocyte count
- avg age of dx: 3 months old
- congenital pure red cell aplasia (due to increased apoptosis or erythroid precursors)
2
Q
Fanconi Anemia
A
- macrocytic anemia
- autosomal recessive
- defective dsDNA repair
- pancytopenia
3
Q
Wilms tumor
A
- most common primary renal tumor of childhood
- peaks at 2-5 y/o
- associated with beckwith-wiedemann syndrome
4
Q
Beckwith-Wiedemann Syndrome
A
- macroglossia
- organ enlargement
- hemi-hypertrophy
- omphalocele
- associated with wilms tumor
5
Q
Hyper IgE, Job syndrome
A
TRIAD
- eczema
- recurrent bacterial infxn of skin (Staph)
- recurrent pulmonary infxns
- sporadic/autosomal dominant
6
Q
Neuroblastoma
A
- tumor of sympathetic ganglia or adrenal medulla
- increased urine VMA and urine HVA
- blueberry muffin baby
7
Q
Shwachmann-Diamond Syndrome
A
TRIAD
- neutropenia
- exocrine pancreas insufficiency
- skeletal abnormalities
- autosomal recessive
8
Q
Chediak-Higashi Syndrome
A
- ineffective granulopoiesis
- partial oculocutaneous albinism
- peripheral and cranial neuropathy
- autosomal recessive
9
Q
Hemolytic Uremic Syndrome
A
- microangiopathic hemolytic anemia
- thrombocytopenia
- acute renal damage/failure
10
Q
Acute Idiopathic Thrombocytopenic Purpura
A
- anti-platelet antibodies
- sudden onset of petechiae and bruising
- normal PT/PTT
- platelet count <20k (low)
11
Q
Kostmann syndrome
A
- impaird myeloid differentiation due to maturational arrest of neutrophil precursors
- risk of life-threatening pyogenic infxn in infancy
- autosomal recessive
12
Q
Leukocyte Adhesion deficiency
A
- neutrophils have diminished adhesion to surfaces
- delayed separation of umbilical cord (>3 weeks)
- bacterial and fungal infxns w/o pus
- autosomal recessive
