19 results
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
MetabolicEmergency #Genetics ... #Pathophysiology ... #Diagnosis #Algorithm ... #Differential # ... Neonatology #Peds
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Table #NICU #Genetics
Causes of Hypokalemia - Differential Diagnosis Algorithm
Increased Loss 
 - Increased GI Loss
 - Increased Urinary
Hypokalemia - Differential ... Diagnosis Algorithm ... #Hypokalemia #Differential ... #Diagnosis #Algorithm ... potassium #low #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Giant Cell (Temporal) Arteritis: Pathogenesis and investigations
Risk Factors:
 - Unclear environmental triggers (may be viral, not
not proven) - Genetic ... yrs old; F>M Signs ... Anemia - Giant cells ... Temporal #Arteritis #Pathophysiology ... #Diagnosis #Signs
Maculopapular - Diagnostic Algorithm
Pathophysiology:
- Catch-all term with a wide range of potential pathophysiologic mechanisms and causative
Maculopapular - Diagnostic Algorithm ... Pathophysiology ... Ill-appearing, vital sign ... Color #Targetoid #Algorithm ... #Differential #
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Diagnosis #Algorithm ... #Causes #Peds #
Hyperkalemia Differential Diagnosis Algorithm
R/O Pseudo-hyperkalemia:
 • Possible Lab error! Alwavs Repeat Blood sample!
 • Leukocytosis, Thrombocytosis:
Hyperkalemia Differential ... Diagnosis Algorithm ... #Hyperkalemia #Differential ... #Diagnosis #Algorithm ... potassium #high #pathophysiology
Erythroderma - Diagnostic Algorithm. Pathophysiology: 1) Extensive cutaneous capillary dilation, results in widespread exfoliation of the
Erythroderma - Diagnostic Algorithm ... Pathophysiology: ... Skin-homing T-cells ... Erythroderma #Nikolsky #Algorithm ... #Differential #
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... from precursor cells ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology