16 results
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
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds ... #Pediatrics #Table
Pediatric Dyspnea - Differential Diagnosis Algorithm
Stridor:
 • Croup
 • Foreign Body
 • Tracheitis
 • Epiglottitis
 •
Pediatric Dyspnea ... - Differential ... Diagnosis Algorithm ... Foreign Body Decreased ... #Causes #Peds #
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
inflamed epiglottis Clinical ... #Epiglottitis #Signs ... Causes #Diagnosis #Differential ... #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... pathophysiology #peds ... #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
Clinical features of shock from dehydration in an infant

Decreased level of consciousness 
Sunken fontanelle 
Dry mucous
Clinical features ... in an infant Decreased ... #PhysicalExam #Signs ... #Dehydration #Peds ... #Pediatrics
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm
Central Nervous System - Decreased LOC, Axial
Floppy Newborn) - Differential ... Diagnosis Algorithm ... Nervous System - Decreased ... #Causes #Peds # ... Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Undifferentiated critical congenital heart disease: Patterns of Presentation 
Pink baby:
 • Presents at 1-6 mo
Undifferentiated critical ... < 1 month • Decreased ... #presentation #Differential ... Blue #Gray #Baby #Peds ... #Pediatrics #Color