12 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 #Differential ... #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
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... #cardiology #peds ... #pediatrics #treatment
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... #PraderWilli #Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... • Genetic Disorder ... Landau-Kleffner Syndrome ... Algorithm #Causes #Peds ... #Pediatrics
Rhabdomyolysis - Differential Diagnosis and Management Summary

Trauma:
 • Immobilization, Crush iniury, Compartment syndrome, Electrical injury
Exertional:
 •
Rhabdomyolysis - Differential ... Diagnosis and Management ... iniury, Compartment syndrome ... Dermatomyositis) AKI - Pathophysiology ... per day until stable
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Kleefstra Syndrome ... is a rare genetic ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Diagnosis and Management ... malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Encephalopathy Syndrome ... Etiology: • Pathophysiology ... Reversible course Differential ... Seizures: Treat with AEDs ... #diagnosis #management
Peripartum Cardiomyopathy - Summary
1. Definition
 • Towards the end of pregnancy to 5 months postpartum
Differential Diagnosis ... Genetic predisposition ... Management during ... Delivery • Stable ... teratogenic GDMT meds