8 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the lab values table ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... #Differential # ... #Table #IEM #NICU
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Gestational Age - Differential ... Diagnosis Algorithm ... Chromosomal Anomaly • Genetic ... GestationalAge #SGA ... Causes #Obstetrics #Pediatrics
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 #Pediatrics
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Gestational Age - Differential ... Diagnosis Algorithm ... >41 weeks) • Genetic ... GestationalAge #LGA ... #Diagnosis #Algorithm
Personality Disorders - Differential Diagnosis Algorithm
• Enduring pattern of experience and behaviour that deviates from cultural
Personality Disorders - Differential ... Diagnosis Algorithm ... is stable and of ... Personality #Disorders #Differential ... #Diagnosis #Algorithm
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Weakness - Differential ... changes - Common pattern ... Malignancy-associated myositis • Genetic ... Serology: - Anti-Ro/SSA ... #Weakness #Differential
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
DIFFERENTIAL DIAGNOSIS ... Mediterranean Sea ... neutropenia (CyN) This genetic ... dominant inheritance pattern