Infant/Child Path 2!!!!!!!!!!! Flashcards
What is fetal hydrops fatalis?
Accumulation of fluid in the fetal body cavities (ascites, pleural effusion, pericardial effusion, skin edema etc).
What is anasarca?
Severe, life threatening edema in the fetus. Basically hydrops fatalis on steroids.
What is the difference between immune and non-immune hydrops?
Immune: this is mediated by Rh antigen exposure to a Rh- mother. in the first pregnancy she is sensitized and makes IgM antibodies to the Rh antigen. Then in the next pregnancy, she makes IgG antibodies that cross the placenta which cause hemolysis of the fetal RBCs.
Non-immune: Causes include cardiovascular, chromosomal (turner’s/trisomies), fetal anemia, infections
Who gets immune hydrops? How would you prevent it from happening
O mothers with A/B infants
Tx: Rhig at 28 weeks and w/in 72 hours of delivery to those Rh- moms
What is cystic hygroma?
Accumulation of fluid around the NECK. Caused by chromosomal anomalies like Turners, viral infections, drugs or alcohol
What is phenylketonuria (PKU) and what is the most common cause?
Can’t convert phenylalanine to tyrosine (wah)
This is mostly (98% of the time) due to your enzyme (PAH), and rarely due to synthesis or recycling problems.
What is the clinical course of PKU?
At birth the little baby will be fiiiiiiine but then as phenylalanine levels accumulate causing problems in brain development. This causes mental retardation, microcephaly and CHD.
To make this problem less severe in the kid, control PKU in the mom so kid doesn’t drown in phenylalanine.
Galactosemia. Vat iz it.
ABSOLUTELY NO galactose-1-phosphate uridyl transferase (GALT) which usually converts galactose-1-phosphase to glucose-1-phosphate. You end up with a shit tone of galactose-1-phosphate which accumulates in the liver, sleep, eyes, kidney, heart, brain, RBC (EVERYWHERE) which causes problems in all of those areas.
The mental retardation is not as bad as in PKU (yay)
How do you treat galactosemia?
STOP EATING SO MUCH GALACTOSE YOU SILLY GOOSE FACE!
Cystic Fibrosis (Mucoviscidosis). Describe the genetics involved here.
This is an AR defect in the CFTR gene (cystic fibrosis transmembrane conductance regulator) which codes for a AMC/ATPase used for mucus, sweat, salvia, tears and digestive enzymes.
Cystic Fibrosis (Mucoviscidosis). Describe the path involved here.
There is a block of the Cl- channel, so there is less Cl- and H2O being secreted into whatever fluid we’re talking about. Na+ gets absorbed more too (Na+ follows its buddy Cl=) making a thick secretion that gets stuck in all the wrong places.
What are the common sx of CF?
Airway obstruction clubbing (mucus plugs) low weight (absorption problems salty tasting skin SALT LOSS SYNDROME metabolic alkalosis
How do you diagnose and treat CF?
Dx: Cl- sweat test
Tx: N-acetylcysteine (breaks disulfide bonds in glycoproteins) and dornase alfa (DNAse)
What is Sudden Infant Death Syndrome (SIDS and what are the risk factors?
You got it, death of a healthy infant (1 mo-1yr) usually during sleep.
Risk factors: 1. Sleeping on belly 2. Cigarette smoke 3. Prematurity Triple-risk model: underlying susceptibility + trigger + vulnerable developmental stage
A bengin tumor of blood vessels is a ___________
HEMAGINOMA.
most common tumor of infancy
Hemangiomas will present with ___________ stains and are associated with ____________________
- Port-wine stains
2. vonhippel-Lindau disease
A thin-walled cyst of the lymphatic system is known as a _____________ and can be either __________ or ___________
Lymphangioma. These increase in size after birth.
Can be either superficial (lymphangioma circumscriptum) OR deep (cavernous lymphangioma)
In fibromatosis there is an benign overgrowth of what kind of tissue? While you’re at it, tell me the translocation associated with this.
Dermal and subcutaneous connective tissue.
t(12;15)(p13;q25)–> ETV6-NTRK3 fusion gene
What’s a teratoma
(Usually) benign tumor of all 3 embryonic germ layers
Most common: sacrococcygeal
Familial Adenomatous Polyposis
FAP
Think: colorectal adenomas
Most common malignant tumors in infants?
Leukemia and lymphoma
Retinoblastoma on histology shows you
- SMALL ROUND BLUE CELS
2. Flexner-Wintersteiner rosettets
What’s the mutation situation for retinoblastoma?
Mutation of Rb protein (Chr 13) , which regulates cell cycle and usually prevents E2F from allows the cell to progress at the G1/S phase.
A neuroblastoma is a malignant tumor of __________ cells
Neural crest
What kind of sx do you see in the a neuroblastoma?
- Abdominal distention
- Watery diarrhea
- Blueberry muffin baby (purpura)
- Orbita mets aka raccoon eyes
What are the key things you’ll se on histology for neuroblastoma?
- Small round blue cells
- Primitive cells with dark nuclei and scant cytoplasm
- Mitotic activity
- Karyorrhexis
- Homer-Wright Peudorosettes
What factors bode for a poor prognosis in neuroblastoma? (just 8 things)
- age>18 mo
- N-myc amplification
- 17q gain
- 1p loss
- 11q loss (1’s look like L’s..)
- TRKA absence
- TRKB presence
- telomerase expression
Wilms Tumor
(nephroblastoma) is a tumor was what kind of cells? What mutation is it associated with?
Immature kidney mesenchyme, primitive glomeruli and tubules, & stromal cells
Mutation: WTI
Large, unilateral flank mass, hematuria and HTN (inc renin secretion) makes you think of what?
Wilms Tumor
Wilms tumor is associated with two key syndromes. Name them and their associated sx.
- WAGR syndrome: Wilms tumor PLUS Aniridia, Genital abnormalities, and mental and motor retardation
- Beckwith-Wiedemann syndrome: Wilms tumor PLUS neonatal hypoglycemia, muscular hemihypertrophy, and organomegaly (including tongue)
Wilms tumor on histology shows you what?
“Classic” triphasic tumor: this includes blastema (small round blue cell), epithelial (glands/ tubules) and stromal patterns.
A hepatoblastoma is a tumor of what age group and what kind of tissue?
Age: young kids
Tissue: epithelial and mixed mesenchymal
Rhabdomyosarcoma. What it is and what to you see on hist?
Malignant tumor of skeletal muscle
Histo: Rhabdomyoblast, desmin (+)
The MOST COMMON CNS TUMOR IS A ______________ and can be low grade or high grade.
Astrocytoma
Who gets most affected by low grade astrocytoma and where does it occur?
Kids, in the cerebellum (a cystic lesion with a mural nodule)
On histology you’ll see what in a low grade astrocytoma? What tumor marker should you look for?
Histo: Rosenthal fibers: thick eosinophilic processes of astrocytes, and eosinophilic granular bodies
Marker: GFAP (+)
Who gets affected by high grade astrocytomas (aka glioblastoma multiforme) and where does it occur?
Adults, in the cerebral hemispheres and crosses the corpus callous giving you that beautiful BUTTERFLY LESION.
On histology what will you seen glioblastoma multiforme? What tumor marker should you look for?
Histo: Necrosis, hemorrhage surrounded by tumor proliferation
Marker: GFAP (+)
Ewing sarcoma affects what demographic and what anatomic location?
- Young boys
malignant small, round, blue cell tumor. It is a rare disease in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, the ribs and clavicle (collar bone)
What is the mutation associated with Ewing sarcoma?
t(11,22)
How aggressive is Ewing sarcoma? Will it respond to therapy?
Its aggressive with early mets but is responsive to chemo.
Who gets Medulloblastoma and what is it made of?
Kids
Made of granular cells of the cerebellum
What will you see on histology for medulloblastoma?
- Round blue cells
2. Homer-Wright rosettes
What’s the prognosis for medulloblastoma?
Bad. It rapidly grows and spreads via the CSF with mets to the caudal equine (Drop metastasis)
An ependymoma is most common in the _______ ventricle
4th
What do you see on histology for ependymomas?
- Small round blue cells
- Homer-wright rosettes
just like medulloblastoma!
