Heme/Onc

Question 1

Kostmann Syndrome

Answer 1

Severe congenital neutropenia with almost no myeloid/bone marrow reserve

Question 2

Vaccines after bone marrow transplant

Answer 2

Re-vaccinate (wipes out memory cells)

Question 3

Diseases with small platelets

Answer 3

Wiskott-Aldrich syndrome (newborn with severe thrombocytopenia, later develop eczema and immunodeficiency)

Question 4

Diseases with large platelets

Answer 4

ITP, Bernard-Soulier syndrome (glycoprotein 1b receptor deficiency), May-Hegglin anomaly, Gray platelet syndrome

Question 5

Fanconi anemia

Answer 5

Sxs: 8-9 y.o. with hyperpigmentation and/or cafe au lait spots, short stature, microcephaly, absent/abn thumbs, abn radii, abn kidneys, and pancytopenia. At risk for tumors. Path: AR mutation of DNA repair.

Question 6

Newborn with scatter vesciulopustular lesions and 22% blasts on peripheral smear, peripheral > marrow blasts.

Answer 6

Seen in 10% of trisomy 21 (transient myeloproliferative disorder aka transient leukemia, self limited) => 10-20x risk of AML in future

Question 7

Pt found with DVT, labs show elevated PTT with no correction after a 1:1 mix with normal plasma

Answer 7

Lupus anticoagulant = prothrombotic, antiphospholipid Ab, with prolonged aPTT 2/2 an inhibitory factor of coagulation in lab testing

Question 8

Pancytopenia and hypopigmented spots

Answer 8

Fanconi anemia (also associated with short stature, microcephaly, hypogonadism, hypoplastic radii and thumb)

Question 9

vWD inheritence

Answer 9

Most common VWD type 1 is autosomal dominant. Type 2 and 3 less common and are autosomal recessive

Question 10

Macrocytic anemia, dysmorphic facies, and congenital thumb anomalies

Answer 10

Diamond-Blackfan anemia (megaloblastic but no hypersegmented polymorphonuclear lymphocytes) => with reticulocytopenia and absent red cell precursors

Question 11

Acute chest syndrome causes

Answer 11

FAT embolism, pneumonia, atelectasis, and infarction