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

A table of lab values compiled from UpToDate and
Inborn Errors of Metabolism ... diagnosing acute metabolic ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #InbornErrors #Metabolism ... #Table #NICU #Genetics
Causes of Pediatric Spells - Differential Diagnosis Algorithm
Neonates and Infant Spells:
 • Benign Sleep Myoclonus
 •
Causes of Pediatric ... Spells - Differential ... Diagnosis Algorithm Neonates ... and Infant Spells ... #Peds #Pediatrics
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Causes of Sudden ... (SUDI) - Differential ... Pulmonary Anomaly • Metabolic ... #Infant #Differential ... #Peds #Pediatrics
Causes of Pediatric Seizures - Differential Diagnosis Algorithm
Infantile:
 • Benign Focal Epilepsy of Infancy
 • West
Causes of Pediatric ... Seizures - Differential ... Encephalitis Provoked - Metabolic ... Sturge-Weber Syndrome Neonates ... #Peds #Pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Alzheimer - 1st cause ... hyperorality, - 25% genetic ... - 2nd cause after ... #Differential # ... Workup #Diagnosis #Geriatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
Causes of Apparent ... Event (ALTE) - Differential ... Myocarditis Metabolic ... Breathing • Apnea of Infancy ... #Peds #Pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... deficiencies present in infants ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm
Central Nervous System - Decreased LOC, Axial
Causes of Hypotonic ... Infant (Floppy ... Newborn) - Differential ... Infection • Metabolic ... #Peds #Pediatrics
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
Hypogonad (50%) • Metabolic ... malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... or refractory cases