chap 10 sy/sg Flashcards
Increased risk of Ecoli septicemia
galactosemia
triphasic combination:
Wilms tumor
• Blastemal – small blue cells in sheets with few distinctive features.
• Stromal- usually fibrotic or myxoid in nature.
• Epithelial- abortive tubules or glomeruli.
intestinal perforation
NEC
Lg, bad smell stool
CF
ulceration of colon
NEC
Wilms tumor (33% of developing wilms), aniridia, genital anomalies, and mental retardation.
WAGR synd
bloody stools
NEC
vitA deficeincy
CF
abd mass
neuroblastoma
hyperplasia of bone marrow
fetal anemia
flattened facies
potter seq
seizures
PKU
gliosis
galactosemia
learning disability
SGA
pale fetus and placenta
fetal anemia
amnion nodosum
potter seq
cataracts
galactosemia
respiratory symptoms,
neuroblastoma in older pt
eczema
PKU
cardiac injury leading to cardiac decompensation and failure
immune hydrops (w liver injury, leads to generalized edema, anasarca (extreme generalized edema), and ultimately in hydrops fetalis. )
Kernicterus
fetal anemia: Brain is enlarged, edematous, and yellow
attention difficulty
fetal alch synd
poor coord
fetal alch synd
Wilms tumor (90%), gonadal dysgenesis (male pseusohermaphroditism), and early-onset nephropathy leading to renal failure.
Denys-Drash syndrome
o Vomiting and diarrhea within a few days of milk ingestion
galactosemia
hepatic steatosis –> cirrhosis –> nodularity
CF
increased cahtecholamines
neuroblastoma
erythroblastosis fetalis
fetal anemia: increased numbers of immature RBCs including reticulocytes, normoblasts, and erythroblasts. (pic)
abd pain
CF
bowel obstruction
Wilms tumor
abd distension
NEC
pulmonary metastasis.
Wilms tumor
gonadoblastomas
Denys-Drash syndrome
Aminoaciduria
galactosemia
edema, esp in the dentate nuclei of the cerebellum and the olivary nuclei of the medulla.
galactosemia
lungs congested with microscopic vascular engorgement and pulmonary edema.
SIDS
loss of n cells
galactosemia
micro: bac colonization
NEC
intestinal obstruction
CF
minute rests
in situ neuroblastomas: leave behind fibrosis and calcification
deep blu coloration of skin
neuroblastoma: blueberry muffin baby
neutropil appearance of cell
neuroblastoma: eosinophilic fibrillary material that corresp w neuritic processes of the primitive neuroblasts.
Beta catenin gain of function (WNT signaling pathway).
Beckwith-Wiedemann syndrome
B strep causes
early sepsis
Normal at birth, but impair brain development and mental retardation within 6 months.
PKU
decreased pigmentation of skin/hair
PKU: from decreased tyr
mental retardation in 6-12 mos
galactosemia
anemia
immune hydrops