Hem/Onc Flashcards
Hemoglobin SC
C + S
mild hemolytic anemia
Hemoglobin C Heterozygote
Normal
Hemoglobin C Homozygous
mild hemolytic anemia, but no vasoocclusive crises
Diamond Blackfan Anemia
anemia + thumb anomalies
Wiskott-Aldrich Syndrome
x-linked immunodeficiency w/ eczema
thrombocytopenia w/ small platelets
TAR syndrome
thrombocytopenia-absent radii syndrome
autosomal recessive, presents in neonatal period
Schwachman-Diamond Syndrome
AR, SBDS gene
- neutropenia
- metaphyseal dysostoses
- exocrine pancreatic insuffiency, diarrhea, recurrent infections, FTT
Fanconi Anemia
AR, poor DNA repair absent thumbs, absent radii pancytopenia microcephaly, renal anomalies cafe-au-lait spots, dark pigmentation
RDW and anemia
increased in IDA, normal in thalassemias
B thal major
- Cooley anemia, no B-globin production
- only HbF present
- transfusion dependent
- chipmunk facies (expansion of bone marrow in facial bones)
Cyclic Neutropenia
fever, neutropenia (<200), ulcers, cervical lymphadenitis every 21 days
EPO production in utero
liver
Bernard-Soulier Syndrome
AR
mild thrombocytopenia w/ giant, abnormal platelets
severe mucocutaneous bleeding in infancy
Kostmann Syndrome
severe congenital neutropenia
AR, young age w/ severe bacterial infections, ANC <200
Chronic Benign Neutropenia
persistent neutropenia but w/o infections
autoantibodies to granulocytes
Complication of goat milk intake
folate deficiency
Abnormal thumbs, think….
trisomy 18, fanconi anemia
APC resistance
Factor V Leiden
Maternal Autoimmune Neonatal Thrombocytopenia due to
transplacental passage of maternal IgG antiplatelet antibodies
Fanconi Anemia, main complication
AML
Delayed separation of umbilical cord or omphalitis, clinical clue for
leukocyte adhesion deficiency
Job Syndrome
Hyperimmunoglobulin E syndrome
S aureus infections, skin abscesses
Abnormal thumbs, think….
trisomy 18, fanconi anemia
Evans Syndrome
ITP + AIHA
Maternal Autoimmune Neonatal Thrombocytopenia due to
transplacental passage of maternal IgG antiplatelet antibodies
Type 1 vWD
most common, decreased in amount of vWF
Type 2 vWD
2A: decreasing binding
2B: increased binding,but bleeding disorder
Type 3 vWD
severe, undetectable vWF and low factor 8
Kasabach-Merritt Syndrome
hemangioma thrombocytopenia syndrome
Ewing Sarcoma translocation
t11:22
Philadelphia Chromosome
t9:22
associated with CML
Juvenile Monomyelocytic Leukemia
<2 years of age
associated with NF1, monosomy 7
Burkitt Lymphoma, common location
peyer’s patches in GI tract, so ileocecal junction
Parinaud Syndrome
impaired upward gaze
due to pineal tumors
Ewing Sarcoma - features
diaphyseal long bones + flat bones (ribs, pelvis)
onion-skinning
Osteoarscoma - features
sunburst pattern
metaphyseal involvement
LiFraumeni Syndrome
p53
gliomas, ependymomas, choroid plexus carcinomas
Langerhans Cell Histiocytosis staining
CD207/langerin
CD1a
Osteochondroma - features
metaphyses of long bones
broad based projection from surface of the points, cartilage cap
hemangioblastomas in CNS, think
VHL
Most common malignancy in infants
neuroblastoma
Orbital Chloroma, think…
AML
Most common CNS tumor in children
glioma - nonmalignant
medulloblastoma - malignant
Osteoid osteoma - features
benign tumor, lucency with surrounding sclerotic bone
often not on x-ray, but on CT
Given NSAIDs, pain due to prostaglandins
Most common posterior fossa mass
astrocytoma
