Pediatrics Flashcards
Types of Congenital Anomalies
Malformations Disruptions Deformations Sequences Syndromes
Primary errors of morphogenesis
Intrinsically abnormal developmental process
Malformations
Anencephaly
Arnold-Chiari Malformation
Are examples of
Primary errors of morphogenesis
Associated with folic acid deficiency
Anencephaly
Extrinsic disturbances of development
Due to localized or generalized compression
Deformation
Most common cause of deformation
Uterine constraint
Example of deformation
Club foot talipes equinovarus
Cascade of anomalies triggered by one initiating aberration
Sequences
Sequence by oligohydramnios
Potter sequence
Sequence induced with the use of misoprostol (PGE?)
Facial paralysis with inability to move eyes from side to side
Mobius sequence
PGE2 agonist
Abortifacient - unwanted uterine contractions
Oligohydramnios can induce
Fetal renal agenesis
Amniotic leak
Fetal compression Pulmonary hypoplasia Altered facies Positioning defects of feets and hands Breech presentation
Renal agenesis is associated with the drug
ACE I
B Renal Agenesis
B Multicystic Dysplastic Kidneys
Reduced Fetal urine excretion
Oligohydramnios causing fetal compression:
Low set ears
Beaked bose
Twisted skin and face
Prominent epicanthic folds and downward slant to eyes
Pulmonary hyooplasia causing respiratory failure
Limb deformities
Potter’s sequence
Constellation of congenital anomalies
Cannot be explained on the basis of a single defect
Ex: Congenital rubella syndrome
Syndromes
Intrauterine Growth Retardation Congenital cataracts (1/3 of patients) Microcephaly Structural heard defects like PDA Salt-and-pepper retinopatht Blueberry muffin skin lesions
Congenital rubella syndrome
Most common manifestation of CRS
Sensorineural hearing loss
Measles or Rubella in first trimester is associated
with more severe anomaly
Leukocoria
Cat’s eye
Retinoblastoma
Prematurity induces
formation of hyaline membrane disease
Reduced surfactant synthesis, storage, release Decreased alveolar surfactant* Increased alveolar surface tension Atelectasis (uneven perfusion, hypoventilation)* Hypoxemia + CO2 retention * Acidosis Pulmonary vasoconstriction Pulmonary hypoperfusion Endothelial damage* Epithelial damage* Increased diffusion gradient HMD*
Solid
Airless lungs
Sink in water
Necrotic cellular debris
Hyaline membrane disease
Which test determines whether respiration took place on a newborn before death?
Fodere’s test
Hydrostatic test
Which test involves floating of the stomach in water to determine the presence of air?
Breslau’s test
Abusive head trauma
Retinal hemorrhage
Brain swelling
Subdural hematoma
Shaken baby syndrome
Sudden and unexpected death of an infant before 1 year of age whose death remains unexplained after autopsy
Most common cause of death in less than 1
Most occur between 2 and 4 months of age
Sudden Infant Death Syndrome
Most common finding in SIDS
Multiple petechiae
Others:
vascular engorgement
pulmonary edema
astrogliosis of brain stem and cerebellum
Hypoplasia of arcuate nucleus
Persistence of hepatic extramedullary hematopoiesis
Persistence of periadrenal brown fat
Sudden Infant Death Syndrome
What is the only safe sleeping position for infants that reduces the incidence of sudden infant death syndrome?
Supine position
Complications of oxygen therapy
Retrolental fibroplasia
(retinopathy of prematurity)
VEGF causes retinal neurovascularization
Bronchopulmonary dysplasia
VEGF is also called
Vascular permeability factor
Decrease in alveolar septation
Fibrosis
Dysmorphic capillary configuration
due to immature antioxidant defenses
Bronchopulmonary dysplasia
Breakdown of mucosal barrier functions permits transluminal migration of bacteria
Most common surgical emergency in neonate
Necrotizing enterocolitis
Most important risk factor for N.E.C.
Prematurity
Bloody stool
Abdominal distention
Development of circulatory collapse
Necrotizing enterocolitis
Gas within intestinal walls
pneumatosis intestinalis
by hemolytic disease caused by blood group incompatibility
Immune hydrops
May also be called by Parvovirus B19 infection or Twin-twin transfusion syndrome
Non-immune hydrops
Rh - mother previously sensitized to Rh antigen by transfusion or Rh+ fetus
Stimulate antibody production against Rh antigen
IgG crosses placenta with antibody attachment to Rh+ erythrocytes of fetus
Removal and destruction of erythrocyte-antibody complex
Anemia, Hemoglobin degradation
Extramedullary hematopoiesis, Cardiac decompensation
Bilirubin increase, jaundice
Hydrops fetalis
Immune hydrops prevention
Administration of RhIg to Rh negative mothers
at 28 weeks AOG, within 72h of delivery or following abortions
Compensatory hyperplasia of bone marrow
results in
Hydrops fetalis
Erythroblastosis fetalis
large numbers of rbcs
Kernicterus Hemolytic anemia Jaundice Chorea Athetosis
Erythroblastosis fetalis
Kericterus has special predilection to
basal ganglia thalamus cerebellum cerebral gray matter SC
Bilirubin deposits in basal ganglia of kernicterus baby is
> 20 mg/dl
Autosomal recessive
Mutations of gene encoding phenylalanine hydroxylase
Inability to convert phenylalanine into tyrosine
Excess phenylalanine metabolites cause brain damage and mental retardation
Phenylketonuria
Imparts a strong musty or mousy odor to affected infants
Phenylacetic acid
Galactose-1-phosphate uridyl transferase
Galactokinase
Galactosemia
Precursor of tyrosine
Rate limiting enzyme?
Cofactor?
Phenylalanine
Phenylalanine hydroxylase
Tetrahydrobiopterine
Most common galactosemia variant
Galactose 1-phosphate uridyl transferase
E coli septicemia Hepatomegaly Cataract Failure to thrive Mental retardation
Galactosemia
Tx for PKU
Sapropterin Dihydrochloride (Tetrahydrobiopterin BH4 THB)
to decrease phenylalanine
Disorder of ion transport in epithelial cells
Autosomal recessive transmission
Most common lethal genetic disease that affects Caucasian populations
Cystic fibrosis
Deletion of three nucleotides coding for phenylalanine at amino acid position 508 (delta F508)
Production of defective CFTR for chloride
Loss of CFTR causes decreased Na and Cl reabsorption in sweat glands
Basis of sweat chloride test
Cystic fibrosis
Atrophy of exocrine pancreas
Meconium ileus (thick viscid mucus plugs causing SBO in infants)
Respiratory infections
Infertility (azoospermia, bilateral absence of vas deferens)
Cystic fibrosis
Cataract is galactosemia is caused by accumulation of
In DM?
Galactitol in lens
Oil drop cataract
Sorbitol
Respiratory infections in cystic fibrosis are most commonly due to
Pseudomonas aeruginosa
Gene erroneous in cystic fibrosis
CFTR Gene
Cystic fibrosis transmembrane regulator gene
Most common lethal genetic disease in Caucasians
Cystic fibrosis
Most common vascular tumors of infancy
Flat larger lesions (port-wine stain)
Hemangiomas
Most common teratomas of childhood
Germ cell tumor
Sacrococcygeal teratoma
Composed of developed tissues/organs
Hair
Teeth
Muscle
Bone
Forms of teratoma
Mature
Immature
Unequivocally malignant
Tumors of sympathetic ganglia and adrenal medulla
Derived from primodial neural crest cells
Amplification of N-MYC oncogene
Peak age at 18 months
Neuroblastoma
Most common extracranial solid tumor of childhood
Neuroblastoma
Gene amplification of
Neuroblastoma
N-MYC oncogene
Multipel fluid loops of intestine
Meconium ileus on XRAY
Soap bubble sign
Meconeum ileus is associated to
Cystic fibrosis
Xray pattern in Pseudomonas
X ray pattern in Staph
Both are
Necrotizing pneumonia
Fleur de lis pattern
Pneumatocoele by Panton Valentin Leukocidin
Pathognomonic of neuroblastoma*
Homer-Wright pseudorosettes
Tumor cells are concentrically arranged about a central space*
Homer-Wright Pseudorosettes
Port-Wine stain
Brain tumors
Sturge Webber Syndrome
Disseminated neuroblastomas with multiple cutaneous metastases
Blueberry muffin baby
Most common teratoma of adult
Ovarian teratoma
Tumors with Homer-Wright Pseudorosettes
Neuroblastoma
Medulloblastoma
Primitive Neuroectodermal Tumors (PNETs)
Retinoblastoma histopathologic landmark*
Flexner-Wintersteiner Rosette
Ependymoma histologic landmark
True Ependymal Rosette
Ovarian teratoma
Headache, Catatonia
Behavioral changes
Seizure
Anti-NMDA Encephalitis
Also seen in ependymomas medulloblastoma PNET Central neurocytomas Glioblastomas
Perivascular pseudorosette
Most common primary renal tumor of childhood
Peak incidence: 2.5 years
Mutations in WT1 gene
Involve both kidneys: simultaneously (synchronous), one after the other (metachronous)?
Wilms tumor
Nephroblastoma
Most common adrenal medulla tumor in adults
Pheochromocytoma
C-MYC Gene is associated
C-mice kitkit
Burkitt lymphomas
Starry-Sky Appearance
Paraneoplastic syndrome Neuroblastoma Ataxia Myoclonus Dancing eyes, dancing feet syndrome
Opsoclonus-myoclonus-Ataxia (OMAS) Syndrome
Kinsbourne syndrome
Dancing Eyes
Specialized epithelium you will encounter in the ventricles of the brain and central canal of spinal cord
Ependyma
Triphasic nephroblastoma comprises three elements
Blastema (least differentiated component, most malignant)
Mesenchyme (stroma)
Epithelium
BEM
Most common site of metastases of nephroblastoma
Lungs
Most common sites of metastasis in neuroblastoma
Bone
Bone marrow
