Peds hemonc

Question 1

Frequent infections, short, abnormal skin pigmentation,

Answer 1

Fanconi anemia b/c failure

Autosomal recessive

Question 2

Tx of fanconi?

Answer 2

antibiotics for leukepenia
transfusion for anemia

bone marrow transplant or stem cell transplant

Question 3

Thumbs are weird and horseshoe kidney?

Answer 3

Fanconi

Question 4

Diamond-Blackfan anemia

Answer 4

Pure RBC anemia: fatigue, dyspnea

Question 5

Thumb abnormalities with heart murmur and craniofacial abnormalities?

Answer 5

DIAMOND-Blackfan

Question 6

Diamond mnemonic?

Answer 6

Diamond shape of hands in front of you

Fingers point towards face abnormalities and intellectual disability

Thumbs weird and point down at hypogonads

Black heart in the middle with heart defects and RBC anemia

Question 7

Weight loss, bone pain, diarrhea, abdominal mass, HTN in a kid?

Answer 7

Think adrenal neuroblastoma(or wilm’s if hematuria)

Question 8

Adrenal neurblastoma can be in chest as it can be anywhere on chain

Answer 8

Can cause horner

Question 9

Labs of adrenal neuroblastoma?

Answer 9

Labs are like pheo
But no episodes like pheo!

Dx? Tumor on CT showing mass surgically resected

Question 10

Most common soft tissue tumor in children?

Answer 10

Striated muscle tumor: RHABDOMYOSARCOMA