09 - Diseases of infancy and childhood Flashcards
Most common cause of congenital anomalies:
Unknown!
Most common known cause of congential anomalies:
Multifactioral!
Second most common cause of neonatal morbidity:
Prematurity
Most common cause of neonatal morbidity:
Congenital anomalies
Most common lethal genetic disease affecting Caucasian populations:
Cystic fibrosis
Most serious manifestation of cystic fibrosis:
Mucus plugging and secondary bacterial pulmonary infections
Most common tumors of infancy:
hemangiomas
Most common teratomas of childhood:
sacrococcygeal teratomas
Most common extracranial solid tumor of childhood:
Neuroblastoma
Most frequently diagnosed malignancy of infancy
Neuroblastoma
Most common site of Neuroblastoma:
Adrenal medulla
Most common primary renal tumor of childhood:
Wilms tumor
These represent primary errors of morphogenesis due to an intrinsically abnormal developmental process; example: Polydactyly
Malformations
These result from secondary destruction of an organ or body region that was previously normal in development, due to an extrinsic disturbance in morphogenesis; example: Amniotic bands
Disruptions
These are due to generalized compression of the growing fetus by abnormal biomechanical forces; example: Uterine constraint
Deformations
This refers to multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis. The initiating event may be a malformation, deformation or disruption; example: Oligohydramnios (Potter) sequence
Sequence
Complete absence of an organ or its anlage.
Agenesis
Incomplete development of an organ.
Aplasia
Underdevelopment of an organ.
Hypoplasia
Absence of an opening, usually of a hollow visceral organ.
Atresia
Most common cause of neonatal mortality.
Congenital anomalies
Most common cause of congenital malformation in humans.
Unknown (40-60%)
Most common known cause of congenital malformations in humans.
Multifactorial (20-25%)
Most common genetic cause of congenital malformations in humans.
Chromosomal aberrations
Elements of the TORCH complex.
Toxoplasma, Others (Treponema pallidum), Rubella, Cytomegalovirus, Herpesvirus
Second most common cause of neonatal mortality.
Prematurity
Histologically characterized by eosinophilic membranes line the respiratory bronchioles, alveolar ducts and random alveoli, which contain necrotic epithelial cells, admixed with extravasated plasma proteins (Diffuse alveolar damage).
Respiratory distress syndrome of the newborn (Hyaline membrane disease)
Main component of pulmonary surfactant; which is insufficient in hyaline membrane disease.
Dipalmitoylphosphatidylcholine (DPPC)
A complication of hyperoxic therapy in patients with RDS, resulting in neovasculatization of retinal vessels, leading to blindness.
Retinopathy of prematurity (ROP)/Retrolental fibroplasia
A complication of hyperoxic injury in patients with RDS, resulting in alveolar hypoplasia or a decrease in the number of mature alveoli; morphologically, there is large, simplified alveolar structures, and a dysmorphic capillary configuration.
Bronchopulmonary dysplasia (BPD)
This condition occurs more commonly in very-low-birth-weight infants, as a result of intestinal ischemia, bacterial colonization of gut and formula milk feeding; histologically, there is presence of submucosal gas bubbles, transmural coagulative necrosis, ulceration, and bacterial colonization.
Necrotizing enterocolitis (NEC)
Results from antibody-induced hemolytic disease in the newborn that is caused by blood group incompatibility between mother and fetus, leading to edema fluid accumulation; examples: ABO and Rh incompatibility
Immune hydrops
Hydrops caused by cardiovascular defects, chromosomal anomalies, and fetal anemia.
Nonimmune hydrops
Inherited disorder of ion transport that affects fluid secretion in exocrine glands and in the epithelial lining of the respiratory, gastrointestinal, and reproductive tracts; most common lethal genetic disease affecting Caucasian populations; involved gene is CFTR-1 in Ch7q31.2.
Cystic fibrosis (CF)
Defined as the sudden death of an infant under 1 year of age which remains unexplained after a thorough investigation; characteristic findings include: multiple petechiae of the thymus, visceral and parietal pleura and epicardium, congested lungs with vascular engorgement with or without pulmonary edema; there is also hypoplasia of the arcuate nucleus.
Sudden infant death syndrome (SIDS)
Tumors arising from neural crest cells; composed of small, primitive-appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets within a finely fibrillar matrix (neuropil: eosinophilic fibrillary material that corresponds to neuritic processes of neuroblasts); associated with Homer-Wright pseudorosettes.
Neuroblastoma (Classically described as a mass crossing the midline, vs. Wilms tumor that does not cross the midline)
Most common primary tumor of the kidney in children; second most common primary tumor of the kidney overall (next to RCC); presents grossly as a large, solitary, well-circumscribed mass; microscopically, a combination of blastemal, stromal and epithelial cell types is observed (Triphasic combination); blastemal components are described as sheets of small blue cells with few distinctive features; stromal cells are fibrocytic or myxoid in nature; epithelial cells take the form of abortive tubules or glomeruli.
Wilms tumor
