20 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... #Diagnosis #Algorithm ... #Neonatology #Peds ... #Pediatrics #Table
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Pediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 infection (PIMS-TS)

#PIMSTS #Pediatrics #Inflammatory #Multisystem #Syndrome #Peds #Signs
Pediatric Inflammatory ... Multisystem Syndrome ... #Multisystem #Syndrome ... #Peds #Signs #Symptoms ... #Diagnosis
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Diabetes Insipidus vs Syndrome of Inappropriate ADH (SIADH) - Comparison Table

Diabetes Insipidus - Inadequate ADH
SIADH -
Diabetes Insipidus vs Syndrome ... ) - Comparison Table ... #Pathophysiology ... #Signs #Symptoms ... #Diagnosis #Endocrinology
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
- Differential Diagnosis ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Algorithm #Causes #Peds ... #Pediatrics
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
febrile vasculitic syndrome ... Early diagnosis ... Features #Signs #Symptoms ... #Diagnosis #Peds ... #Pediatrics
Pediatric Parasomnias and Nightmares: Pathogenesis and clinical findings

Parasomnias - Micro-arousal episodes during SWS ->
Intense activation of
Pediatric Parasomnias ... Parasomnias #Nightmares #Pediatrics ... #Peds #pathophysiology ... #symptoms #pharmacology ... #diagnosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics