Diseases of Infancy and Childhood Flashcards
What is a common cause of Oligohydramnios (Potter) sequence?
Decreased fetal renal blood flow leading to decreased urine production
(Less fluid volume than expected for fetal age)
What is the cause of Polyhydramnios Sequence?
- Decreased fetal swallowing
- Increased fetal urination
- (amniotic fluid volume greater than expected
What is the treatment for polyhydramnios?
- Physical reduction
- Prostaglandin synthetase inhibitors
- indomethacin
What are the long-term effects of congenital rubella syndrome?
- Hearing loss
- Cataract formation
- Retardation (growth and mental)
- Congenital heart disease
Infant presents at birth with jaundice, hepatosplenomegaly, and anemia. What is the disease?
Cytomegalic inclusion disease
CMV
Two month old infant presents with notched central incisors, interstitial keratitis with blindness, and deafness. What is the disease? What is this triad called? What is the cause?
Late congenital syphilis
Hutchinson triad
Treponema pallidum
What can be caused by radiation exposure during organogenesis?
Blindness
Spina bifida
What are some long term effects of maternal hyperglycemia- induced hyperinsulinemia on the infant?
Cardiac anomalies
Neural tube defects
When is a fetus most susceptible to teratogens?
3rd-9th weeks
(organogenesis)
What virus causes fetal hydrops?
Parvovirus B19
What are the defects resulting from retinoic acid embryopathy? What is the cause?
- Defects:
- CNS
- Cardiac
- Craniofacial
- Cause:
- Retinoid acid changes HOX gene expression
What is the function of HOX genes?
Patterning of limbs, vertebrae, and craniofacial structures
What is considered a preterm birth?
before 37 weeks
What is considered a post-term birth?
after 42 weeks
Organisms associated with intrauterine infection are:
- Ureaplasma
- Mycoplasma
- Trichomonas
- Neisseria gonorrhoeae
- Chlamydia trachomatis
Induce labor by:
- Release collagenases/ elastases
- membrane rupture
- Release prostaglandins
- stimulate contractions
What is the cause of proportionate fetal growth restriction (FGR)? Of disproportionate FGR?
- Proportionate:
- fetal factors
- Disproportionate
- Placental factors
- Multiple gestation
What is Caput succedaneum?
accumulation of interstitial fluid in the soft tissues of the scalp
(where head began to enter uterine canal)
What is a cephalhematoma?
Subperiosteal collection of blood
(birth injury)
How is lung maturity assessed in the fetus?
analyzing amniotic fluid phospholipids
What is used to induce surfactant production in the newborn?
corticosterioids
What are the complications of prolonged oxygen therapy on infants (oxygen toxicity)?
- Retrolental fibroplasia (retinopathy)
- neovascularization (increased VEGF) of retina
- detachment and blindness may result
- Bronchopulmonary dysplasia
- decrease in the number of alveoli
Newborn presents with bloody diarrhea and abdominal distention. Abdominal radiographs show gas within the intestinal wall. What is the disease? With what is it associated?
- Disease: Necrotizing enterocolitis
- Low birthweight premature infants
What is hydrops fetalis?
Generalized accumulation of edema fluid
Lethal
What are the causes of nonimmune hydrops?
- CV malformations
- Chromosomal abnormality
- Turner Syndrome
- Trisomies 21 and 18
- Fetal anemia
Erythroblastosis Fetalis can cause what type of hydrops?
Immune hydrops
Which virus can cause nonimmune hydrops? What is the path?
Parvovirus B19
- Path:
- replicates in erythroid precursors
- arrests maturation
- peripheral rim of residual chromatin around nucleus
- aplastic anemia
- replicates in erythroid precursors
Infant presents with a strong musty odor, seizures, decreased pigmentation of hair and skin, and mental retardation. What is the disease?
Phenylketonuria
- Phenylalanine hydroxylase deficiency
Infant presents with hepatomegaly, cataracts, CNS manifestations, and aminoaciduria. What is the disease? What is the cause?
Galactosemia
- Cause: deficiency in gal-1-P uridyl transferase or galactokinase
What is meconium ileus? With what condition is it associated?
- Obstruction of the small intestine from thick plugs of mucus
- Associated with cystic fibrosis in infants
What causes male infertility in CF patients?
Bilateral loss of the vas deferens
What is the pahogenesis of SIDS?
medullary 5-HT dysfunction
Hypoplasia of the arcuate nucleus
What are choristomas?
aggregations of normal cells in an abnormal location
usually no clinical significance
What are hamartomas?
Focal overgrowth of cells and tissues native to the organ in which it occurs
benign
What are teratomas? What is the most common type?
Germ cell tumor
Most common: sacococcygeal
Elevated blood levels of catecholamines signals which type of cancer?
Neuroblastoma
(normally occurs in adrenal glands)
Where does neuroblastoma normally arise?
Adrenal gland
On biopsy of a neoplasm, small blue cells arranged in rosettes (Homer-Wright pseudorosettes) are seen. What is the neoplams?
Neuroblastoma
What is the outcome of neuroblastoma patients associated with the following:
- Hyper-diploidy
- Near-triploidy
- Diploidy or near-diploidy
- near-tetraploidy
- N-myc gene amplification
- Hyper-diploidy (incomplete set)
- good
- Near-triploidy
- good
- Diploidy or near-diploidy
- bad
- near-tetraploidy
- bad
- N-myc gene amplification
- worse with more copies present
Patient presents with poor vision, strabismus, and a whitish hue to the pupil. Biopsy of the neoplasm shows clusters of cells arranged around a central lumen (Flexner-Wintersteiner rosettes). What is the disease?
Retinoblastoma
Patient presents with large abdominal mass, hematuria, abdominal pain, and intestinal obstruction. What type of neoplasm could be the cause?
Wilm’s tumor
- Tumor of the kidney
- Precursor lesions: nephrogenic rests
- Histology:
- combination of blastemal, stromal, and epithelial cell types
Patient presents with a painful, enlarging mass of the leg. The area is warm and swollen. This could be the result of which type of cancer? What is the genetic cause?
Ewing’s sarcoma
- Cause: t (11; 22) of FL-1 near EWS gene
- Bone cancer
