15 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab ... from UpToDate and Pediatrics ... additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
inborn errors of metabolism ... the lab values table ... #Genetics #Pathophysiology ... #Diagnosis #Algorithm ... #Table #IEM #NICU
Causes of Pediatric Constipation - Differential Diagnosis Algorithm
Dietary / Functional:
 • Insufficient Volume / Bulk
Neurologic:
 •
Causes of Pediatric ... - Differential Diagnosis ... Algorithm Dietary ... Withholding • Painful (e.g ... Guillain-Barré Syndrome
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
- Differential Diagnosis ... Algorithm Isolated ... • Genetic Disorder ... #Algorithm #Causes ... #Peds #Pediatrics
Short Stature - Differential Diagnosis Algorithm
Normal Variant, Normal Puberty Onset (BA = CA)
 • Familial Short
- Differential Diagnosis ... Algorithm Normal ... CHF) • Inborn Metabolism ... #Differential #Diagnosis ... #causes #pediatrics
Causes of Apparent Life Threatening Event (ALTE) - Differential Diagnosis Algorithm
Cardiac:
 • Congenital Heart Disease
 •
- Differential Diagnosis ... Algorithm Cardiac ... • Reye's Syndrome ... Disturbances Neurologic ... #Peds #Pediatrics
Some of the techniques used for Antenatal Diagnosis

Amniocentesis 
 - Chromosome/micro-array and DNA analysis 
 -
Fetal infection serology ... inborn error of metabolism ... invasive surgery, e.g ... transfusion syndrome ... Non-invasive genetic
Causes of Sudden Unexpected Death in Infancy (SUDI) - Differential Diagnosis Algorithm
Congenital Anomaly / Disorder:
 •
Algorithm Congenital ... Arrhythmia • Neurologic ... Pulmonary Anomaly • Metabolic ... Sudden Infant Death Syndrome ... #Peds #Pediatrics
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
- Differential Diagnosis ... Cardiac, pulmonary etc ... Radiation • Metabolic ... Malignancy-associated myositis • Genetic ... #neurology
Causes of Fatigue - Differential Diagnosis Algorithm
Endocrine
 • Hypo/Hyperthyroidism
 • Diabetes
 • Pituitary Insufficiency
 • Adrenal
Algorithm Endocrine ... Insufficiency Metabolic ... Pulmonary Disease Neurologic ... • Drug Abuse (e.g ... Chronic Fatigue Syndrome