childhood disease II Flashcards
describe Ascending (transcervical) infections
- bacterial invasion through the cervix, following or triggering premature rupture of the membranes (PROM)
- causes INFLAMMATION of the placental and extraplacental membranes (chorioamnionitis) and the umbilical cord (funisitis) and VILLITIS (lymphocytic infiltrate of chronionic villi)
- may result in PRETERM BIRTH neonatal sepsis, pneuomonia and meningitis
Describe Neonatal sepsis
- invasive bacterial infection occurring in the first week of life (early onset) or during the next 3 months (late onset)
- More common in PREMATURE NEWBORNS 12-24 h before birth, maternal bleeding or infection
- common cause for early-onset sepsis = Group B streptococcus (GBS)
- complications = pneumonia and meningitis
describe Transplacental infections
- TORCH (Toxoplasma, Other infectious agents, Rubella, Cytomegaloirus, and Herpesvirus) cause villitis and fetal infection
- manifestations = pneumonitis, chorioretinitis, myocarditis, encephalitis, hepatosplenomegaly, anema, and thrombocytopenia
- parvovirus B19 infection causes abortion. stillbirth, nonimmune hydrops fetalis, and anemia in the newborn.
- -> erythroid precursors in the infant bone marrow and spleen develop typical inclusions
Neonatal resiratory distress syndrome causes
- prematurity (60% of infants born less than 28weks)
- lack of surfactant
- fetal head injury
- sedation
- aorta anomalies
- umbilical cord coiling
- amniotic fluid aspiration
describe the pathogenesis of hyaline membrane disease (type of RDS)**
1) prematurity –> reduced sufactant synthesis, storage and release
2) decreased alveolar surfactant –> increased alveolar surface tension –> Atelectasis
3) atelectasis leads to uneven perfusion and hypoventilation –> hypoxemia and CO2 retention
4) leads to Acidosis –> pulmonary vasoconstriction –> pulmonary hypoperfusion
5) pulmonary hypoperfusion causes endothelial damage and epithelial damage
6) eventually leads to fibrin + necrotic cells (hyaline membrane)
describe bronchopulmonary dysplasia (chronic lung disease)
- occurs in preterm neonates treated oxygen therapy >4wks and positive pressure ventilation
- Sponge-like lung radiology*
- interstitial fibrosis*
- epithelial hyperplasia, squamous metaplasia (causes COBBLESTONE EXTERIOR SURFACE)
- reduced total numbers of alveoli
- predisposition to respiratory infection
describe necrotizing enterocolitis*
- complication of prematurity and low birth weight
- pathogenesis = ischemia results in focal to confluent areas of bowel necrosis, most often in the terminal ileum
- abdominal distension, ileum and blood stools
- abdominal radiographs = gas in the bowel wall*
- increased chance perforation
- strictures in intestines
define fetal hydrops
- edema in fetus
hydrops fetalis
- generalized edema
describe the development of immune hydrops fetalis **
1) Mother Rd D-; Father Rh D+
2) maternal immunization to Rh D antigen
3) transplacental passage of maternal anti-D IgG antibodies
4) binding anti-D IgG to fetal Rh+ RBC
5) destruction of anti-D IgG-RBC complex
- -> causes miscarriages etc
- -> first baby causes memory B cells
- -> second baby leads to immune response targeting second baby
describe Sudden Infant death syndrome (SIDS)
- unexplained death under 1 year of age
- 90% of cases infant is less than 6 months
what are the paternal risk factors of SIDS**
- young maternal age
- maternal SMOKING during pregnancy
- drug abuse
- late or no prenatal care
- short intergestational intervals
What are the infant risk factors of SIDS**
- brain stem abnormal
- prematurity/SGA
- MALE (also Hyaline disease risk factor)
- antecedent respiratory infections
- multiple birth pregnancy
what are the environmental risk factors of SIDS**
- PRONE sleep position
- sleeping on SOFT surfaces
- hyperthermia (too hot)
- postnatal passive smoking
cystic hygroma
localized edema
what causes immune hydrops
- blood group incompatibility
what causes nonimmune hydrops
- infections
- chromosomal anomalies
- twin pregnancy
- cardiovascular defects
describe the development of immune hydrops fetalis
1) Mother Rd D-; Father Rh D+
2) maternal immunization to Rh D antigen
3) transplacental passage of maternal anti-D IgG antibodies
4) binding anti-D IgG to fetal Rh+ RBC
5) destruction of anti-D IgG-RBC complex
what is the pathology of SIDS
- multipe petechiae (80% of cases)
- lungs congestion - vascular engorgement
- Hypoplasia of arcuate nucleus and decreased brain stem neuronal populations
Capillary hemangiomas
- “birthmarks”
- have only cosmetic importance, and the juvenile hemangiomas that show rapid growth during the 1st year of life, slowing in the next 5 years and disappearing by age 10-15
cavernous hemangiomas
- “port-wine stains”
- do not regress
- Port-wine stains in the TRIGEMINAL NERVE area as part of Sturge-weber syndrome is associated with hemangiomas of the leptomeninges, hemiplegia and mental retardation
Von Hippel-lindau disease
- skin hemangiomas associated with hemangiomas in the cerebellum and retina, cysts renal cell carcinoma and pheochromocytoma
Lymphangiomas
- occur in the neck, axilla, mediastinum and retroperitoneal tissue
- most common is cystic hygroma = a cavernous lymphangioma of the neck or the axilla
- lesions are progressive, do not regress and should be resected
Lymphangiectasis
- dilated lymph channels presenting as a diffuse non-progressive swelling of an extremity with cosmetic consequences
Infantile myofibromatosis
- most prevalent fibrous tumor of infancy
- fibrous tumor in which the cells express muscle-specific actin
- myofibromas are solitary or generalized soft tissue tumors
- Solitary form and the multicentric form without visceral involvement undergo spontaneous regression
- Multicentric form with visceral involvement produces varied symptoms and death within the first 4 months of life
Fibromatosis
- is a condition characterized by the occurence of multiple fibromas, subcutaneous nodules that sometimes may grow rapidly
congenital-infantile fibrosarcoma
- densely cellular tumor with good prognosis
Sacrococcygeal teratomas (SCT)***
- most frequently recognized neoplasm of fetuses
- benign
- malignancy occur in 10% of teratomas with immature tissue microscopy
- may develop nonimmune hydrops in utero and die
- Complications = polyhydramnios, premature rupture of membranes, cardiac failure, and coagulopathy
histologic appearance of SCT**
- most SCTs contain solid and cystic elements
- Three main categories:
1) benign teratomas containing well-differented, adult tissue
2) immature teratomas containing embryonic tissue that is not frankly malignant
3) malignant teratomas
CHildhood malignancy
- malignancy is the second leading cause of death from disease in age 5-14
- origin from hematopoietic, nervous, renal, adrenal gland, soft tissues, bone
- has relationship with devleopmental aberrations
- tendency for spontaneous regression
- may have favorable prognosis
describe the composition of NB***
- composed of “small, blue, round cells” (neuroblasts) forming rosettes
- dense core neurosecretory granules (contain catecholamine)
- Grossly = Blueberry muffin baby
define Neuroblastoma (NB)
- malignant tumor arising from primitive sympathetic cells in the adrenal medulla, the mediastinal and abdominal sympathetic chain, in the pelvis, neck or brain
describe clinical manifestation of neuroblastoma
- abdominal mass
- fever
- pain
- weight loss
- ascites
- respiratory distress
- gait disturbances
- diarrhea
- proptosis
- periorbital ecchymosis
describe Stage 1, 2A and 2B of the International neuroblastoma staging system (INSS)
- Stage 1, 2A and 2B = tumor is localized and contralateral lymph nodes are not invaded
describe stage 4A of the international neuroblastoma staging system (INSS)
- Stage 4S defined as a small primary tumor in the abdomen or thoracic cavity, with metastasis in the liver or bone marrow and skin
- patients are at low risk if there are no N-myc amplification or chromosome changes
describe the microscopic appearance of wilms tumor
- tightly packed blue cells consistent with blastemal component and interspersed primitive tubules, reprentin the epithelial component
describe stages 3 and 4 of the international neuroblastoma staging system (INSS)
- Stage 3 = unilateral tumor extending across midline or localized with invaded contralateral lymph nodes
- Stage 4 = disseminated tumor
- no N-myc amplification, low TRK-A expression
what is the high-risk group of international neuroblastoma staging system
- high-risk group includes children >1 year with S3 or S4 tumors and unfavorable histology, N-myc amplification, chromosome abnormalities, minimal TRK-A expression, near-diploid or tetraploid karyotype
Pleomorphic rhabdomyosarcoma
- elderly
- located deep within muscle of extremities and trunk
- very aggressie (WORST)
- numerous large large, sometimes multinucleated, bizarre eosinophilic tumor cells
- ugly looking (lots of eyes starring at you)
alveolar rhabdomyosarcoma
- adolescents
- located in muscles of extremities form cords or alveoli infibrovascular stroma
- very aggressive
- crude resemblence of pulmonary alveoli
- Tumor is travered by a network of fibrous septae that divide the cells into cluster or aggregates
- cells in periphery adhere to septae; cell sin center of aggregates are discohesive
embryonal rhabdomyosarcoma
- infancy or childhood
- -> most often located in head and neck tissue
- -> less aggressive than other forms
- sarcoma botryoides-embryonal rhabdomyosarcoma with grape-like, soft polypoid gross appearance
- -> located in genitourinary, upper respiratory or biliary tract
- -> BEST PROGNOSIS
describe the appearance of Wilms tumor (WT) (nephroblastoma)
- WTs are unicentric lesions, but many are multifocal or bilateral
- pseudocapsule, areas of hemorrhage and necrosis
- consists of epithelial, blastemal, and stromal elements
- anaplasia correlates with chemotherapy resistance and poor prognosis
neural tube defects (NTDs)
- opening in the spinal cord or brain that occurs very early in human development
- supplementing the maternal diet with FOLIC ACID prior to pregnancy can reduce the incidence of NTD
- prenatal screening test for neural NTDs: maternal serum AFP**
Describe the clinical appearance of Wilms tumor
- abdominal mass
- hematuria
- fever
- hypertension
describe the cause of Wilms tumor
- mutation of the WT-1 gene located on chromosome 11p13 are found in 15% of cases
- associated with beta-catenin mutations
- also associated with WT-2 gene on chromosome 11p15
describe the types of rhabdomyosarcoma pathology
- Embryonal rhabdomyosarcoma
- alveolar rhabdomyosarcoma
- pleomorphic rhabdomyosarcoma (prognosis is the worst)
Fetal alcohol syndrome (FAS)
- a pattern of physical and mental defects that can develop in a fetus in association with high levels of alcohol consumption during pregnancy
- alcohol crosses the placental barrier
alcohol causes
- growth retardation
- microcephaly
- short palpebral fissures
- maxillary hypoplasia
- atrial septal defect
- small head, epicanthal folds, flat midface, smooth philtrum, thin upper lip
what is an indicator of fetal lung maturity
- sulfactant is an indicator
- surfactant is a mixture of lipids, proteins, and glycoproteins, lecithin and sphingomyelin being two of them
- Lecithin-sphingomyelin ratio (L/S ratio) is a test of fetal amniotic fluid to assess for fetal lung immaturity
What are the risk factors for early-onset neonatal sepsis
- previous infant with GBS disease*
- GBS bacteriuria during pregnancy*
- delivery before 37 wk gestation*
- Ruptured membrans > 18h
- intrapartum temperature > 38 C
what are the risk factors of Hyaline membrane disease
- mother has diabetes
- C section
- Male gender
- preterm AGA
what is the clinical presentation of hyaline membrane disease
- respiratory distress
- cyanosis**
- hypoxemia
- hypercarbia
- metabolic acidosis
Kernicterus
- due to immune hydrops fetalis
- -> hemolytic anemia
- -> hyperbilirubinemia leads to jaundice and kernicterus
Fibrosarcoma
- Grade III fibrosarcoma has high grade atypia and high mitotic index
describe WAGR syndrome
- 33% risk to have Wilms tumor
- aniridia (no iris)
- genital anomalies
- retardation (mental)
- Germline Del 11p13 (WT1)
describe Denys-Drash syndrome
- 90% risk to have wilms tumor
- nephropathy
- gonadal dysgenesis
- gonadoblastoma
- WT1 MUTATION
