Professional Documents
Culture Documents
treatment symptomatic
cirrhosis
basal ganglia (neurologic symptoms)
Kayser-Fleischer green brown ring
Glycogen storage diseases
(glycogenoses)
= defects of glycogen synthesis or
degradation
12 forms
Patau syndrome
= trisomy 13
Klinefelter syndrome
47 XXY
male hypogonadism
elongated body + eunuchoid habitus
reduced body hair
gynecomastia
testis atrophy azoospermia sterility
Turner syndrome
45 X0
female hypogonadism
growth retardation
swelling of nape of neck
ovarian atrophy primary amenorrhea
infantile breast + outer genitalia
Pediatric Diseases
childhood: birth 15 years
perinatal period: 1st week - mortality
neonatal period: 1st month
mortality
700 in 100,000 < 1st year
40 in 100,000 < 5th year
20 in 100,000 < 15th year
Causes of death under 1 year
IU growth retardation / low birth weight
Respiratory distress syndrome (RES)
IU hypoxia / birth asphyxia
Birth trauma
Congenital anomalies
Sudden infant death syndrome (SIDS)
Pneumonia
GIT disorders
Causes of death 1 to 15 year
Injuries
Congenital anomalies
Malignant neoplasms
Homicide
Heart diseases
Congenital anomalies
Malformations = primary morphogenesis
errors
multifactorial
Disruptions = destruction of normally
developted organ
amniotic bands
Deformations = compression of fetus
malformed uterus, leiomyoma, multiple fetuses
Congenital anomalies
Agenesis
= complete absence of organ
Hypoplasia
= incomplete development of organ
Atresia
= absence of opening, e.g. GIT, bile ducts
Etiology of congenital
malformations
Genetic (see previous lecture)
Environmental
infections rubella, toxoplasmosis, syphilis, CMV
maternal diseases - diabetes mellitus
drugs thalidomide, warfarin
alcohol, smoking
irradiation
Perinatal infections
Transplacentally
viruses, parasites, bacteria
TORCH
encephalitis, chorioretinitis, hepatospenomegaly, ..
Transcervically
during pregnancy (infected amniotic fluid) or delivery
Streptococcus agalactiae, HSV
+ chorioamnionitis + funisitis
Prematurity and IU growth
retardation
prematurity = gestational age < 37 weeks
premature rupture of membranes
chorioamnionitis, placental anomalies,
twin pregnancy
Fetal
chromosomal disorders, congenital malformations,
Placental
placenta previa, placental abruption, placental
infarction,
Maternal
preeclampsia, chronic hypertension, drugs, smoking,
Respiratory distress syndrome
= RDS, hyaline membrane disease
inability of immature lungs to synthesize
surfactant
20% children, boys
alveoli collapse greater inspiration effort
to open atelectasis hypoxia
damage of epithelium and endothelium
hyaline membranes
Respiratory distress syndrome
airless, heavy lungs, mottled color
Mi: congestion, atelectasis, hyaline membranes