15 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
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
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
Pediatric SVT - Management Algorithm
Identify SVT:
 • HR not variable
 • Abrupt rate changes
 • Infants:
SVT - Management Algorithm ... AP Stable? ... Signs of shock or ... tachycardia #Management #Algorithm ... #peds #Pediatric
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 #
Hypochloremia - Differential Diagnosis Algorithm

Cause - Decreased Intake:
 • Low salt in diet
 • Exclusive D5W
Hypochloremia - Differential ... Diagnosis Algorithm ... - Gitelman SIGNS ... Cl⁻ with other components ... #Pathophysiology
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
(parkinsonian signs ... hyperorality, - 25% genetic ... component - Frontal ... MNCD #Dementia #Differential
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
Maculopapular Rashes - THE ALGORITHMIC APPROACH 

The term maculopapule is a portmanteau, a combination
of macule and
Maculopapular Rashes - THE ALGORITHMIC ... macule and papule (Table ... rashes but without signs ... have a broader differential ... Maculopapular #Rash #Algorithm