Diseases of Infancy and Childhood Flashcards
LBB born preterm at 27 weeks AOG via SVD, observed TACHYPNEIC a few minutes after birth w/ associated GRUNTING, ALAR FLARING and INTERCOSTAL RETRACTIONS.
CXR: GROUND GLASS appearance of lung field w/ air bronchograms
Patient eventually expired 2 days after despite appropriate treatment measures.
Autopsy: EOSINOPHILIC membranes lining the alveolar walls
Respiratory Distress Syndrome (Hyaline Membrane Disease)
LBB born preterm at 27 weeks AOG via SVD, observed TACHYPNEIC a few minutes after birth w/ associated GRUNTING, ALAR FLARING and INTERCOSTAL RETRACTIONS.
CXR: GROUND GLASS appearance of lung field w/ air bronchograms
Excessive oxygen administration
Fundoscopy showed - RETINAL NEOVASCULARIZATION
Retinopathy of Prematurity (ROP)/ Retrolental fibroplasia
CXR: GROUND GLASS appearance of lung field w/ air bronchograms
Admitted at the NICU for 7 weeks maintained on > 21% FI at discharge but expired several days after.
Autopsy: DECREASE in ALVEOLAR SEPTATION
Bronchopulmonary Dysplasia (Moderate)
LBG, born preterm at 29 weeks AOG via VSD, hematochezia and abdominal distention.
Babygram: PNEUMOPERITONEUM
Autopsy: TRANSMURAL COAGULATIVE NECROSIS, ULCERATION and SUBMUCOSAL GAS BUBBLES in the COLON
Necrotizing Enterocolitis (NEC)
7/F with salty sweat and hx of recurrent pulmonary infections presented w/ dyspnea and cyanosis and was intubated. ETA CS showed Pseudomonas aeruginosa. Patient eventually expired. Autopsy showed no diagnostic abnormality on the skin but lung shoe dilation of airways w/ intense acute and chronic inflammation and granulation tissue formation
Cause of death
Diagnosis for pulmonary findings
Cystic Fibrosis (Mucoviscidosis)
Bronchiectasis
6/M with an enlarging ABDOMINAL mass that CROSSES the midline and generalized DUSKY MACULES resembling the surface of BLUEBERRY MUFFIN.
Autopsy: MASS in the ADRENAL GLAND
sheets of small round blue cells with occasional formation of Homer-Wright Rosettes
Neuroblastoma
5/F w/ HEMATURIA and large ABDOMINAL mass mainly located on the RIGHT but appears to cross the midline.
Biopsy: MIXTURE of glandular structures, sheets of spindle cells and small round cells
Wilms tumor
Primary errors of morphogenesis
Intrinsically abnormal developmental process
MALFORMATION
anencephaly
congenital heart disease
Secondary destruction of a normally developed organ
DISRUPTIONS
amniotic bands compressing parts of fetus
Extrinsic disturbance of development
UTERINE CONSTRAINT - MCC
DEFORMATIONS
club feet
Cascade of anomalies triggered by one initiating aberration
SEQUENCE
Oligohydramnios (Potter Sequence)
Constellation of congenital anomalies that are pathologically related and cannot be explained by single, localized, initiating defect
MALFORMATION SYNDROME
Congenital Rubella Syndrome
Embryo most susceptible during early during embryonic period
1st 3 weeks post fertilization
EXTREMELY susceptible to teratogenesis
3rd - 9th week
PEAK SENSITIVITY (height organogenesis)
4th - 5th week
MCC of respiratory distress in newborns
Neonatal RDS (Hyaline Membrane Disease)
ASSOCIATIONS:
prematurity
male
maternal diabetes
CS delivery
Hyperoxia causes vasoconstriction and hypoxia that increases VEGF –> neovascularization
Retinopathy of Prematurity (ROP)
Impairment of lung development at saccular stage
striking decrease in alveolar septations
Bronchopulmonary Dysplasia
Impairment of lung development at saccular stage
striking decrease in alveolar septations
Bronchopulmonary Dysplasia
Hematochezia, abdominal distention, circulatory collapse
PNEUMATOSIS INTESTINALIS - gas within intestinal wall
PNEUMOPERITONEUM - in severe NEC
Necrotizing Enterocolitis (NEC)
ASSOCIATIONS:
prematurity
VLBW
aggressive enteral nutrition
Mediator implicated in NEC
increases mucosal permeability
Platelet Activating Factor (PAF)
Mediator implicated in NEC
increases mucosal permeability
Platelet Activating Factor (PAF)
MCC of hemolytic disease of the newborn
ABO incompatibility
MOST SEVERE cause of hemolytic disease of the newborn
Rh incompatibility
MCC of non-immune hydrops
Homozygous a-thalassemia
The most serious complication of fetal hydrops (CNS) damage
Kernicterus
MC lethal genetic disease affecting Caucasian populations
salty sweat
respiratory and intestinal complications
pancreatic insufficiency
atrophy and fibrosis of exocrine pancreas
meconium ileus
bile plugs
steatosis
CYSTIC FIBROSIS (Mucoviscidosis)
CFTR gene in chromosome 7
MOST serious manifestation of Cystic Fibrosis
LUNGS
mucus plugging
S. aureus
H. influenza
P. aeruginosa
MC tumors of infancy
HEMANGIOMA
MC teratomas of childhood
Sacrococcygeal teratomas
MC neoplastic disease
Leukemia
MC solid tumors
CNS (INFRAtentorial)
MC extracranial solid tumor of childhood
Most frequently diagnosed
tumor of infancy
Neuroblastoma
abdominal mass CROSSES midline
blueberry muffin
elevated catecholamines
OPSOCLONUS-MYOCLONUS SYNDROME
MC site of neuroblastoma
ADRENAL MEDULLA (40%)
Morphology of Neuroblastoma
BLASTEMAL CELLS
HOMER WRIGHT PSEUDOROSETTES
SCHWANNIAN STROMA - favorable prognosis
MC primary renal tumor of childhood
chromosome 11 (WT1, WT2)
Nephroblastoma (Wilms tumor)
ASSOCIATED WITH:
WAGR syndrome (WT-1 deletion)
Denys-Drash syndrome (WT-1 dysfunction)
Beckwith-Wiedemann syndrome (WT2 imprinting)
Triad of Wilms Tumor
unilateral mass (does NOT cross the midline)
hematuria
HPN
Morphology of Wilms Tumor
CLASSIC TRIPHASIC TUMOR
BES!
Blastema - small round blue cells
Epithelial - glandular, glomerular
Stromal - myxoid, fibroblasts
