Pediatric Pathology Flashcards
What are the time spans associated with Ped’s pathology?
- Neonates - 0-4 weeks
- Infants - first year of life
- Children - 1-4 and 5-14
What are the differences in causes of death for neonates compared to other Pediatrics?
- neonatal deaths are due to congenital anomalies or unknown reasons
- older child deaths are due to preventable diseases
What are the types of congenital anomalies?
- Intrinsic - due to maternal or baby problem
- Extrinsic - due to mechanical factors or compression of growing fetus
What is the difference between deformations and malformations?
- Malformations - inappropriate development
- Deformations - abnormality after complete formation
What is the difference between a sequence and a syndrome?
- Syndrome - a constellation of multiple anomalies
- Sequence - anomalies triggered by one aberration
What are the characteristics of Trisomy 21?
- single palmar crease, broad hands
- large tongue and wide spaced eyes
- widely separated first and second toes
- most common chromosomal abnormalities
- may accompany other malformations
What are the characteristics of Trisomy 18?
- Micrognathia, low set ears, short neck
- rocker bottom feet, short great toe
- Horseshoe kidney
- Severe congenital heart defect
- not compatible with life
What is Gastroschisis?
- malformation of the intestines not being replaced into the abdomen
- normal umbilical cord
- no association with other congenital anomalies
- can be repaired
What is an Omphalocele?
- outpocketing of the abdominal cavity including membrane
- many have other major congenital anomalies
- defect occurs at the insertion of the umbilical cord
LGA
- Large for Gestational Age
SGA
- Small for Gestational Age
What are the concerns with a LGA newborn?
- hypoglycemia and hyperinsulinemia
- birth injuries due to large size
- 3 fold risk for congenital anomalies
Pre-term
- born before 38 weeks
SUID
- sudden unexplained infant death
- includes - SIDS, sleep related infants, accidental suffocations
What are some methods that reduce the risk of SIDS?
- Sleeping on back
- Breast feeding
- Immunizations
- Cribs be empty
IUGR
- Intrauterine growth retardation
What are general characteristics of IUGR?
- fetal etiologies (congenital anomalies)
- placental etiologies (infection)
- maternal etiologies (drugs, diabetes, HTN)
What are placental signs of an active baby?
- long umbilical chord
- many twists in the umbilical chord
What is defined by TORCH infections?
- T - toxoplasmosis
- O - other vacteria and viruses
- R - rubella
- C - cytomegalovirus
- H - herpesvirus
What are the fetal results of a CMV infection?
- Stillbirth, IUGR, Cardiac anomalies, Deafness
- if they survive they will be very sick and short life span
What are some indications for an examination of the placenta?
- Maternal conditions - diabetes, HTN, fever, TORCH infection
- Newborn conditions - stillborn, congenital anomalies, poor APGAR score, multiple pregnancy
- Placental conditions - abruption, infarction, masses, cacificaitons
What does the APGAR score access?
- Heart rate
- Respiratory rate
- Muscle tone
- Nasal stimulus
- Color
Uses a 0-2 scale for each of these areas - 0-1 = 50% mortality
- 4 = 20% mortality
- 7 or more = 0% mortality
What are screening tests that are required by state law?
- hypothyroidism and PKU deficiency
What is the criteria for a screening test?
- the disorder can be identified at this phase
- a screening test is available
- there are demonstrated benefits of early detection
What are the required screening tests in for a Nebraska newborn?
- Severe combined immune deficiency
- cystic fibrosis
- Congenital primary hypothyroidism
- Congenital adrenal hyperplasia
- Sickle cell disease
- Galactosemia
- Fatty acid disorders
- Amino acid disorders
- Organic acid disorders
Why do we screen for metabolic disorders?
- these disorders usually present with no-specific symptoms
- early diagnosis, early intervention, better prognosis
How is a cystic fibrosis screening done?
- sweat chloride test
- high chloride levels are indicative of cystic fibrosis
- needs to be coupled with a symptom, sibling with CF or another test to be confirmative
What is the most common genotype identified in CF patients?
- Delta F508
What are the characteristics of Hirschsprung’s disease?
- a lack of ganglion cells in portion of intestine which leads to stopping of stool movement
- distended bowel and a transition zone in a barum enema study
- can be associated with Down’s syndrome
What is an immature teratoma?
- germ cell neoplasm containing all three embryonic cell types
What are the characteristics of infintile germ cell neoplasms?
- no malignant elements
- extragonadal tumors are common
What are the most common categories of pediatric cancers?
- hemetologic and brain neoplasms
Wilm’s Tumor
- kidney malignancy in pediatric pts
How are pediatric tumors handled after removal?
- histology
- snap freeze for biologic studies
- touch preps (cytology and FISH)
- Cytogenetic chromosome testing
