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
Infants fail to thrive from birth.
galactosemia
lungs solid and reddish-purp
RDS (hyaline mem dis)
hepatosplenomegaly
fetal anemia
-hepatomegaly in galactosemia and CF
fatty change of liker
early galactosemia
male infertility
CF: bilateral absence of the vas deferens
hypertension
Wilms tumor
pnemumatosis intestinalis
NEC: gas in intestine
Poor wt gain
CF
bone pain
neuroblastoma in older pt
rales heard
RDS (hyaline mem dis)
large abdominal mass that may extend across midline or into pelvis
Wilms tumor
wt loss
neuroblastoma
hemolysis and coag
galactosemia
fever
neuroblastoma
dislocated hips
potter seq
Proptosis (exophthalmos)
neuroblastoma if metastasizing to the periorbital region
pancreatic insufficiency
CF
extramedullary hematopoesis in liver, spleen, LNs
fetal anemia
fibrosis/granulation tissue of colon
NEC
fetal macrosomia
DM mom…organomegaly and increased body fat and m mass
gonadal failure
older pt w galactosemia
scarring of liver similar to alch
later galactosemia
liver injury resulting in plasma proteins synth
immune hydrops (w cardiac injury, leads to generalized edema, anasarca (extreme generalized edema), and ultimately in hydrops fetalis. )
GI complaints
neuroblastoma in older pt
neural tube defects
DM mom
multiple petechiae on the thymus, visceral and parietal pleura, and epicardium.
SIDS
viral inclusions in erythroid progenitors
parvovirus B19
speech probs
older pt w galactosemia
cystic and cavernous spaces on neck, axilla, mediastinum, retroperitoneal tissue
lymphangioma
increased mucus and defective mucociliary action
CF
jaundice
- (non)immune hydrops –> cross BBB = kernicterus
- galactosemia
- CF
ground-glass appearance on x ray
RDS (hyaline mem dis)
necrotic cells and fibrin deposition with a hyaline membrane in lungs
RDS (hyaline mem dis)
Musty or mousy odor
PKU
maxillary hypoplasia
fetal alch synd
circulator collapse
NEC
psychomotor disturbances
fetal alch synd
increased risk of hepatoblastoma, pancreatoblastoma, adrenocortical tumors, and rhabdomyosarcomas.
Beckwith-Wiedemann syndrome : have CDKN1C (p57 or KIP2) mutation
Hematuria
Wilms tumor
obstruction of the airways
CF
Organomegaly, wilms tumor (5%), macroglossia, hemihypertrophy, omphalocele, and abnormal large cells in the adrenal cortex (adrenal cytomegaly).
Beckwith-Wiedemann syndrome
microcephaly
fetal alch synd
Major handicaps
SGA
malnutrition
CF
steatorrhea
CF
cerebral dysfunction
SGA
ataxia
older pt w galactosemia
accumulations of mucus in the small ducts and dilation of the exocrine glands.
mild CF
listeria and canadida cause
late sepsis
hyperactive behavior
fetal alch synd
cyanotic
RDS (hyaline mem dis)
be unable to walk/talk
PKU
pseudorosettes
neuroblastoma: tumor cells are concentrically arranged about a central space filled with neuropil.
pre and post natal grth retard (ht and wt)
fetal alch synd
short palpebral fissures
fetal alch synd
hearing/visual impairment
SGA
micro: coag necrosis
NEC
positional abnormalities of the hands and feet
potter seq
ducts are completely plugged, causing atrophy of the glands and progressive fibrosis.
severe CF
RDS (hyaline mem dis) can cause…
Patent ductus arteriosus, intraventricular hemorrhage, and necrotizing enterocolitis.
CNS malformations
DM mom
peritonitis
NEC
ecchymosis in orbital region
neuroblastoma if metastasizing to the periorbital region
diffuse swelling of part or all of the extremity that can cause considerable distortion and deformation
lymphangiectasis
Meconium ileus
CF: thick viscid plugs of mucus in the intestine of infants → bowel obstruction
red-blue on skin (face and scalp)
hemangioma
bronchioles underbo hyperplasia and hypertrophy
CF
<3 anomalies
DM mom
Chronic lung dz from recurring infections
CF: usu from staph a., Haemophilus influenza, and pseudomonas aeruginosa
nephrogenic rests
precursor lesion to wilms tumor
Abd distention
CF
hypoplastic lungs.
potter seq
smooth philthrum
fetal alch synd
