Chapter 10 Flashcards
1
Q
Methods for acquisition of fetal and perinatal infections
A
- transplacental (hematogenous):most parasitic (toxo), viruses and some bacteria (listeria)
- transcervical (ascending): most bacterial and some viral (e.g. HSV); usually from inhaling infected amniotic fluid before birth or during birth through infected canal; results most often pneumonia, sepsis, meningitis
2
Q
Parvovirus B19 effects during gestation
A
- spontaneous abortion (particularly in 2nd trimester), stillbirth, hydrops fetalis, and fetal anemia
- virus has tropism for fetal red cells and inclusions can be seen in these cells
3
Q
Outcomes of TORCH infections
A
- fever, encephalitis, chorioamnionitis, hepatosplenomegaly, hemolytic anemia, hemorrhagic skin lesions
- chronic sequelae may include cataracts, mental retardation, cardiac anomalies, etc
4
Q
Features at autopsy in cases of hydrops
A
- pale fetus and placenta
- hepatosplenomegaly
- compensatory hyperplasia of erythroid precursors in bone marrow
- extramedullary hematopoeisis (liver, spleen)
- kernicterus: edematous and yellow, especially basal ganglia, thalamus, cerebellum, cord
- may see dysmorphic features if chromosomal abnormality
- may see cardiac malformations
5
Q
Phenylketonuria
A
- autosomal recessive
- most caused by biallelic mutation of the gene encoding phenylalanine hydroxylase but many mutations with variable effect
- biochemically, unable to convert phenylalanine into tyrosine
- develop progressive mental retardation due to toxic effects of phenylalanine
- effects can be avoided by limiting phenylalanine intake early in life
- women who fail to adhere to the diet have children with profound retardation and microcephaly due to teratogenic effects of phenylalanine
6
Q
Galactosemia
A
- most cases with severe effects have a lack in galactose-1-phosphate uridyl transferase resulting in galactose-1-phosphate accumulation
- hepatosplenomegaly leading to cirrhosis, cataracts and nonspecific CNS effects but mental retardation not as severe as in PKU
- can be prevented by removed galactose from the diet for the first 2 years of life
7
Q
Pathologic effects of CF
A
- decreased chloride and increased water and sodium reabsorption in the lung and intestine resulting in a low volume surface fluid layer
- dehydration reduces the function of the mucociliary transport system and causes accumulation of hyperconcentrated secretions
- pancreatic insufficiency results from abnormal bicarbonate transport with decreased luminal pH
8
Q
Different classes of mutations in CF
A
- Defective protein synthesis
- Abnormal protein folding (includes most common deltaF508 mutation)
- Defective regulation
- Decreased conductance
- Decreased abundance
- Altered regulation of separate ion channels by CFTR
9
Q
Some clinical scenarios with CFTR mutations without cystic fibrosis
A
- idiopathic chronic pancreatitis
- late onset chronic pulmonary disease
- idiopathic bronchiectasis
- obstructive azoospermia
10
Q
List some special features of tumors in infancy and childhood
A
- may spontaneously regress or differentiate
- frequent association between abnormal development (teratogenesis) and tumor development
- presence of familial or genetic aberrations
- improved survival with new emphasis on late effects of childhood cancers and/or their treatment
- primitive appearance of many childhood tumors
11
Q
What are neuroblastic tumors derived from?
A
-primordial neural crest cells at sites such as sympathetic ganglia and adrenal medulla
12
Q
Special features of neuroblastic tumors
A
- most common extracranial solid tumor of childhood
- spontaneous or therapy-induced regression or differentiation into more mature counterpart
13
Q
Name a gene implicated in familial neuroblastoma?
A
ALK
14
Q
Distribution of neuroblastomas
A
Adrenal medulla (40%) Paravertebral abdomen (25%) Posterior mediastinum (15%)
15
Q
Histologic features of neuroblastoma
A
- small round blue cells
- eosinophilic fibrillary material (neuropil)
- Homer-Wright pseudorosettes: cells surround neuropil
- ++ mitoses and karryorhexis
- variable numbers of ganglion cells (ganglioneuroblastoma, ganglioneuroma; both of these require Schwannian stroma)
- EM: membrane bound catecholamine secreting granules
- IHC: NSE
