Ch11: Pediatric Pathology Flashcards
What is neonatal?
first 4 weeks of life
What is infancy?
first year of life
What are the five breakdowns of pediatrics?
- Neonatal
- Infancy
- Age 1-4
- Age 5-14
- Age 15-24
During which age group do most pediatric deaths occur?
Under 1 year of age.
What are congenital anomalies?
Morphologic defects that are present at birth
Does congenital mean genetic?
No
What percentage of newborns have a major anomaly?
3%
What does major anomaly mean?
anomaly having either a cosmetic or functional significance
What is an anomaly?
Marked deviation from normal, especially as a result of congenital or hereditary defects
What is a malformation?
Primary errors of morphogenesis - intrinsically abnormal developmental process
Are malformations due to a single gene problem or multifactorial?
Multifactorial usually
What is a disruption?
secondary destruction of an organ or body region that was previously normal in development
A disruption arises from what?
extrinsic disturbance in morphogenesis
What is a deformation?
extrinsic disturbance of development leading to a variety of structural abnormalities
What causes deformation?
Localized or generalized compression of the growing fetus by abnormal biomechanical forces
What is most common factor of deformations?
uterine constraint
What is a sequence?
pattern or cascade of anomalies
Example of a sequence?
Symptoms? (5)
Oligohydramnios –> Potter sequence
Wide set eyes with epicanthal folds Low set ears Broad, flattened nose Receding chin Limb anomalies
What is a syndrome?
constellation of congenital anomalies, believed to be pathologically related
How do sequences and syndromes differ?
syndrome cannot be explained on the basis of a single localized initiating defect in organogenesis
What leads to a syndrome? (2)
- Viral infections and 2. chromosomal abnormalities- can lead to a group of anomalies in multiple organs
What are genetic anomalies?
Anomalies that are genetic in origin
What are the three groups of genetic anomalies?
- Karyotypic aberrations
- Single gene mutations
- Multifactorial inheritance (multiple genes + environment)
What happens to 80-90% of fetuses with aneuploidy or abnormality of chromosome number?
Spontaneous abortion (die in utero)
90% of single gene mutation anomalies are inherited in what pattern?
What are the rest?
- Autosomal dominant
- Autosomal recessive
X-linked or something else
What is the most common chromosomal disorder?
Trisomy 21
What is the most common form of inherited mental retardation?
Trisomy 21
Symptoms of trisomy 21? 6
Mental retardation, flat facial profile, prominent epicanthal folds, simian crease, duodenal atresia, and congenital heart defects
What disease occurs more often in trisomy 21 patients as they age?
Alzheimers
Acute lymphoblastic anemia (ALL)
What increases risk of trisomy 21?
Increasing age of mother
Trisomy 18/Edward’s results in what symptoms? 7
Severe mental retardation Rocker bottom feet Low set ears Micrognathia Congenital heart defects Renal abnormalities Clenched hands with overlapping fingers
Trisomy 13/Patau’s syndrome has what symptoms? (6)
Severe mental retardation Microcephaly Cleft lip/cleft palate Polydactyly Congenital heart defects Renal abnormalities
What causes Cri-du-chat syndrome?
Chromosome 5p deletion (short arm)
Results of cri-du-chat syndrome? (6)
Severe mental retardation High pitched crying/mewing – source of the syndrome name Epicanthal folds Broad nasal bridge Malformed ears Congenital heart defects
What is Klinefelter’s the result of?
XXY sex chromosomes
Klinefelter’s symptoms? (5)
Testicular atrophy Tall stature Long extremities Gynecomastia Female hair and fat distribution
What causes Turner syndrome?
Missing X chromosome in women
Results of turner syndrome? (5)
Short stature Ovarian dysgenesis Webbing of neck/Cystic hygromas Coarctation of aorta Primary amenorrhea/Hypothyroidism/Insulin resistance
What does the quadscreen look for? 4
AFP
hCG
Estriol
Inhibin A
AFP/alpha-fetoprotein is produced by who?
Fetus
hCG is what?
Hormone made in placenta
What is estriol?
Estrogen made by both fetus and placenta
What is inhibin A?
Protein made by placenta and ovaries
After getting the measurements of the four substances in the quad-screen what are they then combined with? (2)
- Age
2. Ethnicity
When is quad screen performed?
16th and 18th week of pregnancy
Who should definitely get a quad screen? (6)
- Family history of defects
- Older than 35
- Used drugs or harmful meds
- Take insulin
- Viral infection
- High radiation levels
High levels of AFP suggest what?
Such as what? (2)
possibility of a neural tube defect
such as spina bifida or anencephaly
What is the most common reason for elevated AFP levels?
inaccurate dating of the pregnancy
Low AFP
Abnormal hCG and estriol
Suggest what?
Chromsomal abnormality such as trisomy
Is the quad screen diagnostic?
NO
What are some environmental causes of injury to fetus? 3
- infections
- drugs
- irradiation
What are the main infections that can cause fetus problem?
Toxoplasmosis Other infections Rubella Cytomegalovirus (CMV, the most common) Herpes simplex virus (HSV) Syphilis
Congenital toxoplasmosis can cause what? 5
- Hepatosplenomegaly
- GI problems: diarrhea, vomiting
- Retinitis, seizures, neurologic problems
- Hearing loss
- Low birth weight, jaundice, petechial rash
Congenital rubella can result in what?
- Cardiac defect: Patent ductus
- Cerebral defect
- Eye defect (cataracts and blindness)
- Deaf
- Prematurity, low birth rate, anemia, hepatitis, thrombocytopenia
Congenital CMV can result in what?
- Prematurity, low birth rate, anemia, hepatitis, thrombocytopenia
- Microcephaly and seizures
- Hearing and vision
- Mental retardation
Congenital herpes simplex infection likes what in the brain?
Temporal lobe
What are the three forms of congenital herpes simplex infection?
- Localized
- Disseminated
- CNS form
Symptoms of localized form of congenital HSV?
Lesions of skin, eyes and mouth (birth canal exposure)
Symptoms of disseminated form of congenital HSV?
internal organs, particularly the liver
Symptoms of CNS form of congenital HSV?
Seizures, tremors irritability, lethargy –> encephalopathy
Congenital syphilis has skeletal and teeth changes such as what? 9
- Blunted upper incisor teeth (Hutchinson’s teeth)
- mulberry molars
- Frontal bossing (prominence of the brow ridge)
- Hard palate defect
- Saddle nose
- Swollen knees
- Saber shins
- Short maxillae
- Protruding mandible
Congenital syphilis other findings include? (8)
Pneumonia Interstitial keratitis Deafness Hepatosplenomegaly with jaundice Petechial and other rashes Rhinitis Lymphadenopathy Rhagades
Most bacterial and some viral such as HSV infections are acquired by what route?
Cervicovaginal route
Transcervical infections are acquired how? (2)
- exposure to infected amniotic fluid before birth
2. by passing through an infected birth canal
Exposure to a transcervical infection is associated with what incident?
Premature Rupture of Membranes and ascending infection
Transplacental infections include what?
- Parasitic: Toxoplasmosis and malaria
2. Bacterial: Listeria and syphilis
How are transplacental infections passed to fetus?
Chorionic villi