an identified genetic mutation OR 5 of the following 8 criteria 1. fever 2. splenomegaly 3. Cytopenia 2/3 blood cell lines 4. Hypertriglyceridemia +/- hypofibrinogenemia 5. Hemophagocytosis in spleen/bone marrow or lymph node without evidence of malignancy 6. low or absent NK cell activity 7. Elevated ferritin level 8. elevated soluble CD25 (IL-2 receptor) level

Heme/Onc Flashcards by Vanessa Soetanto

Common types of soft tissue masses in children

Rhabdomyosarcoma
The botryoid variant (sarcoma botryoides), arising within the wall of the bladder or vagina, is seen almost exclusively in infants.

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By what age do patients with sickle cell disease usually have functional asplenia

5yo

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Who is at risk of acute splenic sequestration crisis and when does it go away

HbSS, HbS beta thal (S Beta-0), HbSC, HbSB+

Goes away when spleen atrophies in HbSS and HbSb0

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how much blood to transfuse in Sickle cell crisis

3-5 ml/kg aliquots

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low platelet, high mean platelet volume indicates

presence of autoantibodies

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risk of administering anti-D immunoglobulin (in the setting of giving in ITP)

worsen anemia

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Differential diagnosis in child with anemia and thrombocytopenia

leukemia

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when to consider steroids in ITP

when leukemia is not on ddx, in older kids not at high risk of bleeding (because it takes a while to start working)

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Causes of isolated neutropenia in infants (before 1yo)

Severe congenital neutropenia
Cyclic neutropenia (every 21d)

both are autosomal dominant

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Treatment for febrile neutropenia other than antibiotics

G-CSF

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most common childhood cancer

ALL/AML

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When should you consider working up a child for leukemia?

unexplained fever, pain, pallor, fatigue, petechiae, bruising, and pathologic fractures

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Specific tests for leukemia aside from CBC/BMP

LP
Flow cytometry
Boys: testicular exam

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Factors for good prognosis in ALL (Age, WBC, CSF)

Children < 10 and >1 yo
WBC: <50,000
CSF not involved

No testicular disease

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ALL treatment

Boys longer tx than girls (risk of testicular mass)

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Syndromes associated with increased risk of ALL

trisomy 21
Klinefelter sd
Fanconi anemia
Bloom sd

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When is prednisone urgently needed in ALL

mediastinal involvement causing respiratory compromised

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Hemophilia A is a deficiency in factor ___

VIII

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Most common congenital coagulation factor deficieny

hemophilia A

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Female carriers of hemophilia A have symptoms of ___

menorrhagia

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Level of factor VIII and risk classification

mild 6-30%
Mod 1-5%
Severe <1%

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Triad of thrombocytopenia, eczema, and infections dx

wiskott-aldrich syndrome
X-linked disorder

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How to diagnose HLH

an identified genetic mutation OR 5 of the following 8 criteria

fever
splenomegaly
Cytopenia 2/3 blood cell lines
Hypertriglyceridemia +/- hypofibrinogenemia
Hemophagocytosis in spleen/bone marrow or lymph node without evidence of malignancy
low or absent NK cell activity
Elevated ferritin level
elevated soluble CD25 (IL-2 receptor) level

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Next steps after diagnosing HLH

genetic testing for primary HLH
Bone marrow aspirate and biopsy r/o malignancy and look for classic hemophagocytsis macrophage
LP (see if intrathecal therapy is indicated(
brain imaging to assess central nervous system disease
eval of infectious cause of secondary HLH

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Autoimmune hemolytic anemia dx

low Hb, nucleated RBC high retic IgG + DAT

Tx of AIHA

steroids

vitamin k is essential for factors ____

II, VII, IX, X

When does vitamin K deficiency bleeding occur

newborn to 6 mo of age

What's the risk of severe VKDH and when does it happen

<1 week of age (early) an can involve intestinal or head bleed

In TLS, what are the levels of potassium, phos, and uric acid?

all high

where are craniopharyngiomas derived from?

pituitary embryonic tissue

Sequelae of tx of craniopharyngiomas

pan hypopituitarism risk of hypothalamic hyperphagia

Tx of cranipharyngioma

Resection and radiation if not fully resected

Risk of untreated brainstem glioma

herniation and resp failure

Child with severe neutropenia comes to the ED, next steps

cultures and IV abx

Neutropenia, is it innate or adaptive? What are you at risk of developing?

Innate fungal and bacterial

When to evaluate for immunodeficiencies (7)

1. >2 SYSTEMIC bacterial infections (sepsis, meningitis, osteomyelitis) 2. >2 serious respiratory infections (PNA) 3. Multiple bacterial infections (cellulitis, draining otitis media, lynphadenitis) 4. Unusual infections involving the liver or a brain abscess 5. Infections by unusual pathogens (aspergillus, disseminated candidiasis, serratia, nocardia, bukholderia) 6. Infections of unusual severity 7. Chronic gingivitis or recurrent aphthous ulcers

Hb electrophoresis for B thalassemia major

HbA 0* HbA2 elevated HbF +/-

How to treat/cure beta thal major Hb B-0

blood transfusions HSCT

How to differentiate between iron deficiency and beta thal on mentzer index (MCV/RBC)

Iron deficiency >13 Beta thal <13

Macrocytic anemia ddx

nutritional (B12/Folate) Diamond Blackfan anemia

Anemia due to destruction ddx

Intrinsic to RBC: hereditary spherocytosis, G6PD deficiency, sickle cell anemia, pyruvate kinase deficiency Extrinsic to the RBC: antibody-mediated destruction (e.g. autoimmune hemolytic anemia), Hemolytic uremic syndrome (mechanical)

Transfusion reactions (acute) and how to minimize

Febrile transfusion reaction (cytokine in donor plasma react to antigen on donor leukocyte) -- leukoreduction Allergic Hemolytic Bacterial contamination -- should send blood product back to culture Transfusion-associated graft vs host disease (donor lymphocutes recognize host as foreign) -- irradiation

When to refer bone pain to Oncology

lytic lesion Periosteal reaction: Osteosarcoma, Ewing, Osteomyelitis NO Periosteal reaction: Histiocytic disorder, neuroblastoma

When to NOT refer patient to oncology for bone pain

solitary lesion eccentric lytic destructive lesion and metaphyseal expansion (non-neoplastic) DO get CT if it is a sharply marginated radiolucent lesion. May be osteochondroma, osteoid osteoma, osteoblastoma, fibroma

How to treat pain from osteoid osteoma

NSAID Worsens at end of day, not related to activity Resect lesion

Boils, recurrent pneumonia, recurrent bacterial infections/abscesses. What do you suspect is the issue? What if there are family members who have it?

Innate immune system - CHRONIC GRANULOMATOUS DISEASE (CGD) - issue with oxidative radicals Neutrophils, monocytes, NK cells X-linked (all males) Mutation CYBB

How do you test for CBD/ oxidative burst?

Flow cytometric assessment of oxidative burst - dihydroxy-rhodamine123 reduction

Mutations in ELANE causes ___

severe congenital neutropenia

What causes HbSS mutation

Replacement of glutamic acid with valine at position 6 of B-globulin

How to diagnose adrenal mass in neonates/prenatally identified adrenal mass

urine vanillymandelic acid (VMA) homovanillic acid (HVA) or positive metaiodobenzylguanidine (MIBG) scan likely neuroblastoma

most common extracranial solid tumor in children

neuroblastoma

Factors that are favorable for neuroblastoma

< 18mo Lower stage NO MYCN amplification DNA index that is not diploid Heterozygosity at 1p and 11q

Management of neonatal neuroblastoma

reassurance and periodic US should self-resolve

Serum marker for hepatoblastoma

alpha fetoprotein

Serum marker for germ cell tumor

HCG

Where can neuroblastoma show up

Adrenals Paraspinal ganglia (near the spine)

Triad of botulinum Toxin

bulbar palsy Descending paralysis Clear sensorium

If you see pancytopenia, next step?

Bone marrow biopsy

Differential for pancytopenia -- hypoproliferation (6)

Leukemia Aplastic anemia Nutritional deficiency Metastatic cancer infiltrating bone marrow (neuroblastoma/rhabdomyosarcoma) Fulminant sepsis MDS

Differential for pancytopenia -- increased destruction (3)

Splenomegaly Paroxysmal Nocturnal Hemoglobinuria (complement mediated) Acquired hemophagocytic lymphohistiocytosis

Normal MVCs by age (roughly)

Higher than adult range as newborns - 3d >95 2wk >86 2mo >77 3-6 mo >74 NADIR 2-6 yo >70

Side effect of etoposide

AML MDS

Side effect of daunorubicin (anthracycline)

cardiomyopathy

Side effects of cytarabene and cyclophosphamide

gonadal failure, bladder cancer

Side effects of cytarabene and cyclophosphamide

gonadal failure, bladder cancer

At what serum lead level should a child be started on iron supplementation

Anticholinergic toxidrome

mad as a hatter dry as a bone hot as a hare red as a beet blind as a bat (pupillary dilation)

Anticholinergic toxidrome

mad as a hatter dry as a bone hot as a hare red as a beet blind as a bat (pupillary dilation)

Tx for acute methanol toxicity

fomepizole