Lecture 11: Pediatric Diseases Flashcards
Congenital anomalies
Morphologic defects present at birth, including malformations, disruptions, deformations, sequence, syndromes
Malformations
Primary errors of morphogenesis; intrinsically abnormal embryonic/fetal development. Usually multifactorial (assoc. w/ many gene loci)
Congenital abnormality causes
- Genetic
- Environmental
- Multifactorial
Thalidomide
Causes limb defects (phocomelia, flipper limbs) in newborns
Fetal Alcohol Syndrome
- Epicanthal folds
- Low nasal bridge
- Minor ear abnormalities
- Micrognathia (undersized lower jaw)
- Short nose
- Short palpebral fissures
- Thin upper lip
Congenital rubella syndrome
Caused by rubella infection.
- Cataracts
- Deafness
- Heart defects
- Mental retardation
- Blueberry muffin rash
Zika virus
Environmental cause of congenital defects
- Microcephaly
Multifactorial congenital defects
Interaction of environmental influences with multiple genes of small effect
- Neural tube defects
- Cleft lip/palate
Prematurity
Gestational age <37 weeks, weight <2500 grams
Major risk factors with prematurity
- Preterm Premature Rupture of Placental Membranes
- Intrauterine infection
- Uterine/cervical/placental structural abnormalities
- Multiple gestation
Entities assoc. w/ prematurity
- Neonatal respiratory distress syndrome
- Necrotizing enterocolitis
- Sepsis
- Intraventricular/germinal matrix hemorrhage
Neonatal RDS
- Dyspnea, fine rales
- Maternal diabetes history
- Immature lungs -> surfactant deficiency
- Increased surface tension, collapsed lungs, progressive atelectasis, reduced compliance
- Protein/fibrin-rich exudate
RDS treatment
- Maternal steroids before birth
- Artificial surfactant
- Mechanical ventilation
- Supplemental O2
O2 therapy complications
RIB:
- Retrolental fibroplasia
- Intraventricular hemorrhage
- Bronchopulmonary dysplasia
Necrotizing enterocolitis
- Abdom. distension, absent bowel sounds, bloody stool, perforation
Benign pediatric tumors
- Vascular (hemangiomas)
- Teratomas
Hemangiomas
Most common infant tumors
- Capillary type: skin, subQ tissue, oral/lips mucous memb., liver, spleen, kidneys. Spont. regress many times.
- Cavernous: involve deeper structures, more local destruction, do not regress alone
von Hippel-Lindau disease
Autosomal dominant disorder assoc. w/ hemangiomas
Teratomas
Neoplasms that include tissues from all 3 germ cell layers
Types of teratomas
- Mature
- Immature
- Malignant
Mature teratomas
Well-differentiated cystic lesions, benign
Immature teratomas
Indeterminate potential
Malignant teratomas
Usually admixed w/ another germ cell tumor component
Sacrococcygeal teratomas
Most common childhood teratomas. 10% assoc. w/ congenital anomalies. Malignant potential correlates w/ amount of immature material present
Malignant pediatric tumors
- Neuroblastomas
- Retinoblastomas
- Nephroblastomas (Wilms tumor)
Neuroblastoma
Sympathetic ganglia/adrenal medulla tumor. Most common childhood adrenal medulla tumor.
Neuroblastoma classes
Classified by neural differentiation.
1. Neuroblastoma (primitive stroma)
2. Ganglioneuroblastoma (primitive stroma, ganglion cells)
3. Ganglioneuroma (ganglion cells, Schwannian stroma)
N-myc amplification
N-myc overexpression assoc. w/ rapid tumor progression; more copies = worse prognosis.
Retinoblastoma
Most common primary intraocular childhood malignancy. Many of germ-line mutation of 1 RB allele
Wilms tumor
Aka nephroblastoma.
Most common childhood primary renal tumor.
- Huge flank mass, hematuria, anorexia, nausea, vomiting, fever, abd. pain
- Assoc. w/ WT1 tumor suppressor deletion (chr. 11)
Anaplasia
Cells w/ large, hyperchromatic, pleomorphic nuclei and abnormal mitoses; 5% of tumors.
