Childhood diseases I Flashcards
Flattened nasal bridge + oral cavity malformations + bowing shins= ?
Congenital syphilis
What are anomalies?
Morphologic defects that are present at birth
What is the cause of most congential abnormalities? Percent?
Unknown (40-60%)
What percent of congenital malformations are multifactorial? Percent?
20-25%
What is the the most common malformation? Percent?
Clubfoot with CNS (25.7%)
What is the second most common malformation? Percent?
PDA (16.9%)
What is the third most common malformation? Percent?
VSD (11%)
What is the fourth most common malformation?Percent?
Cleft lip/palate (9.1%)
What is the clubfoot?
Internal rotation of a foot at the ankle
What is PDA?
Patent ductus arteriosus fails to close after birth.
recall DA shunts pulmonary blood to the aorta
What are VSDs?
Ventricular septum does not come up fully. Thus left ventricle can move to the right.
What is the cause of the cleft lip?
Incomplete closure of the pharynges
What is atresia?
Abnormal closure of a lumen–esophageal or rectal
What are the two major genetic diseases of childhood?
Down syndrome
CF
What is the most common chromosomal disorder?
Trisomy 21
What CA are Down syndrome patients susceptible to?
Leukemia (acute megakaryoblastic leukemia)
What happens to Down syndrome patients after age 40?
Neurodegenerative changes characteristic of Alzheimer’s
Why are Down pts susceptible to thyroid diseases?
Abnormal immune response
At what maternal age does Down syndrome probability increase?
at 35, much more at 40
What is the incidence of Down syndrome?
1 in 700
What is the cause of increased probability of having a Down syndrome child with increasing maternal age?
Meiotic nondisjunction
What is the Robertsonian translocation? What percent of down patients have this?
(14;21q), +21 (translocation produces extra bits of Cr21, but not a full chromosome)
4%
What is the Robersonian translocation? What percent of down patients have this?
(14;21q), +21 (translocation produces extra bits of Cr21, but not a full chromosome)
4%
What is the mosaic type of Down syndrome? What percent of down patients have this?
Mixture of some cells with an extra 21st chromosome, and another without
1%
What are the characteristics of Down syndrome pts? (3)
- Flattened nasal bridge
- Epicanthal folds on inner corner of eyes
- Palpebral fissures slant upward
What is the simian crease?
Single, transverse crease on the palm of the hand–can be seen in downs (or not)
What is the foot characteristic of Down syndrome?
Space between the first and second toes
What is the inheritance pattern of CF?
AR
What is the incidence of CF?
1 in 3200
What is the problem with CF?
Epithelial CFTR transporter, resulting in high salt [c] in exocrine glands
How do you diagnose CF?
Hypertonic sweat
What is the CFTR gene location?
7q 31.2
What is the most common mutation that leads to CF?
deletion of 3 nucleotides coding for F at 508 position
What causes a salty baby?
Cl cannot flow into ducts of sweat glands, thus Na cannot either.
How many different mutations give rise to CF?
over 800
What causes a salty baby?
Cl cannot flow into cells, thus Na cannot either.
What is the effect of CFTR mutation in mucus glands?
Cl cannot escape cells, thus Na and water flow inward at an increased rate.
What are the digestive issues with CF? (4)
Biliary cirrhosis
Malabsorption
Meconium ileus
Chronic pancreatitis
What bacterial infections are CF patients predisposed to?
Pseudomonas Aeruginosa
What is the heart dysfunction seen in CF?
Cor pulmonale
What are the digestive issues with CF? (3)
Biliary cirrhosis
Malabsorption
Meconuim lueus
What is the normal term for babies?
38-42 weeks
What is the male issues of CF?
Vas Deferens is clogged
What are the histological changes seen in CF?
Fibrotic changes in the lung
What are neonates?
0-28 days after birth
What are the five components of the APGAR score?
Color HR Respiration Reflex Muscle tone
What is the cutoff for post-term babies?
> 42 weeks
What is the cutoff for an “infant”?
28 days to 1 year
What is a child?
1-17 years
What are the two other names for fetal growth restrictions?
Small for gestational age (SGA)
Intrauterine growth restriction (IUGR)
What are the fetal causes of fetal growth restrictions?
Chromosomal/genetic or congential malformations
What is the placental cause of fetal growth restrictions?
Placental abnormalities, infx,
What is the maternal cause of fetal growth restrictions?
Preeclampsia, renal disease, drugs
What are the ranges of APGAR score?
0-10
The APGAR score is taken when? What percent chance of death with what scores?
5 minutes
0-1 = 50%
4 = 20%
>7 = 0%
What percent of births are premature?
12%
What is the definition of fetal growth restriction?
Fetal weight that is below 10th percentile for gestational age as determined by ultrasound
What is a subgaleal hematoma?
Bleeding in the potential space between the skull periosteum and the scalp galea aponeurosis. Can happen during birth.
What are the three main causes of fetal growth restrictions?
Fetal
Placental
Maternal
What are the transplacental infections?
Toxoplasmosis Other **Rubella** Cytomegalovirus Herpes
What are the “other” causes of transplancental infectinos?
Listeriosis **Syphilis** HIV HBV Parvovirus B19
What are the characteristics of the rash with congential syphillus?
vesiculobullous–highly infectious
What is the cause of syphilis? When can this cross the placenta?
Treponema pallidum
5th month
When are the two characteristics of the teeth in congential syphillis?
Mulberry molars
Hutchinson incisors
Saber shin = what disease
Sharp anterior bowing of the tibia caused by congential syphilis
What are the fire major symptoms of congenital rubella syndrome?
Low weight Purpuric rash Microcephaly Heart defects Cataracts
What is the fetal cause of fetal growth restrictions?
Chromosomal or congential malformations
What is the placental cause of fetal growth restrictions?
Placental abnormalities, infx,
What is the maternal cause of fetal growth restrictions?
Preeclampsia, renal disease, drugs
What does it mean that fetal restrictions are symmetric?
all systems are similarly affected
What type of fetal growth restrictions is asymmetric?
Placental and maternal
What are the two consequences of smoking while prego?
- Premature
2. Asymmetric FGR
What is caput succedaneum?
Benign Scalp swelling caused by the pressure of the presents part of the scalp
What are the three types of perinatal infections?
- Transplacental
- Ascending
- Combo
What are the transplacental infections?
Toxoplasmosis Other Rubella Cytomegalovirus Herpes
What is the cause of syphillus?
Treponema pallidum
When does Treponema pallidum cross the placenta?
5th month
Hutchinson incisors = what disease?
Congenital syphilis
Saber shin = what disease
Sharp anterior bowing of the tibia
What are the symptoms of congenital rubella syndrome?
Low weight Purpuric rash Small head Heart defects Visual problems
When in the pregnancy does congential rubella syndrome develop?
1st trimester
What are the intestinal problems with Downs?
Intestinal stenosis
What are the muscular characteristics of down syndrome?
Hypotonia
What are the gradings for color in the APGAR scoring?
Entirely blue = 0
Blue extremities = 1
No cyanosis = 2
What are the gradings for heart rate in the APGAR scoring?
Absent = 0 100 = 2
What are the gradings for respirations in the APGAR scoring?
ABsent = 0 Weak/irregular = 1 Strong = 2
What are the gradings for reflexes in the APGAR scoring?
Absent = 0
Grimace or feeble cry = 1
Sneeze/cough or pulls away = 2
What are the gradings for muscle tone in the APGAR scoring?
None = 0
Some flexion = 1
Active movement = 2
What is the second most common cause of neonatal mortality?
Prematurity
What are the risks factors for premature birth?
PPROM
Smoking
Previous preterm
Vaginal bleeding
What is Cephalhematoma?
Hemorrhage under the periosteum
True or false: subgaleal hemorrhage extends over the entire scalp
True
What are the symptoms of a subarachnoid hemorrhage at birth?
Apnea
SZs
hydrocephaly
What is Germinal Matrix Hemorrhage ?
a bleeding into the subependymal germinal matrix with or without subsequent rupture into the lateral ventricle
