9 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Metabolism A table ... from UpToDate and Pediatrics ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... Neonatology #Peds #Pediatrics ... #Table #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
of information: Pediatrics ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... Neonatology #Peds #Pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
Alzheimer - 1st cause ... hyperorality, - 25% genetic ... Dementia - 2nd cause ... MNCD #Dementia #Differential ... #Diagnosis #Geriatrics
Approach to Neonatal Jaundice

Causes of pathologic hyperbilirubinemia can be classified as due to (1) increased bilirubin
Neonatal Jaundice Causes ... Diagnosis #Peds #Pediatrics ... Jaundice #Algorithm #Differential ... #Workup #bilirubinemia
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... Diagnosis #Algorithm #Causes ... #Peds #Pediatrics
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
syndrome - Genetic ... Hypomagnesemia #Differential ... Low #Magnesium #Table ... Classification #Causes ... #Workup #hypomg
Causes of Growth Restriction - Small for Gestational Age - Differential Diagnosis Algorithm
Maternal
 • Chronic Maternal
Causes of Growth ... Gestational Age - Differential ... Chromosomal Anomaly • Genetic ... Diagnosis #Algorithm #Causes ... #Obstetrics #Pediatrics
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Mendelian genetic ... #Hypertension #Causes ... Secondary #diagnosis #differential ... #age #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
paediatrician or geneticist ... intra-abdominal masses ... Newborn #Infant #PhysicalExam ... Examination #Peds #Pediatrics