13 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
schema of the pathophysiology ... MetabolicEmergency #Genetics ... #Pathophysiology ... Diagnosis #Algorithm #Differential ... #Neonatology #Peds
Causes of Pediatric Wheezing - Differential Diagnosis Algorithm
CXR Abnormal:
 • Pulmonary Sequestration
 • Congenital Adenoid Cystic
Causes of Pediatric ... Wheezing - Differential ... Sequestration • Congenital ... Algorithm #Causes #Peds ... #Pediatrics #Pulmonary
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Causes of Cyanosis in the Newborn - Differential Diagnosis Algorithm
Peripheral Only:
 • Poor Perfusion
 • Acrocyanosis
Hemoglobinopathy:
the Newborn - Differential ... Hemoglobinopathy: • Congenital ... Total Anomalous Pulmonary ... Algorithm #Causes #Peds ... #Pediatrics
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Infancy (SUDI) - Differential ... Diagnosis Algorithm Congenital ... Neurologic Anomaly • Pulmonary ... Algorithm #Causes #Peds ... #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
sleep apnea, cor pulmonale ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Undifferentiated critical congenital heart disease: Patterns of Presentation 
Pink baby:
 • Presents at 1-6 mo
Undifferentiated critical congenital ... if cardiac or pulmonary ... #presentation #Differential ... Blue #Gray #Baby #Peds ... #Pediatrics #Color
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
also known as "congenital ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Inherited forms of Hyperbilirubinemia
Major pathways involved in bilirubin production, conjugation, and excretion. Notes: Both the UB
Unconjugated Crigler-Najjar ... Hyperbilirubinemia #pathophysiology ... #congenital #hepatology ... #pediatrics #peds
Differentiation Syndrome in APML
Epidemiology:
 • Incidence: common in APL (2-48% depending on the study)
 • Triggers:
the study) • Triggers ... ATRA treatment Pathophysiology ... Imaging: CXR- pulmonary ... initiation • Differential ... diagnosis #management #hematology