7 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
A table of lab values ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #NICU #Genetics
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
See the lab values ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis ... #Neonatology #Peds ... #IEM #NICU #InbornErrors
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... - Differential Diagnosis ... Syndromic • Genetic ... #Algorithm #Causes ... #Peds #Pediatrics
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene
deletion or mutation. Most kids
Syndrome is a rare genetic ... disorder, caused ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Age Distribution of Hypertension Etiologies
< 1 month
 - Renal arterial thrombosis
 - Congenital renal disease
 -
- Mendelian genetic ... #Hypertension #Causes ... #Secondary #diagnosis ... differential #age #pediatrics ... #peds
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... intra-abdominal masses ... #Examination #Peds ... #Pediatrics #Diagnosis
Pyloric Stenosis
 • Most common b/w 2 wks - 2 months 
 • Projectile, non-bilious vomiting
Pyloric stenosis can cause ... Diagnosis is made ... irritation of the vagus ... PyloricStenosis #Diagnosis ... #Peds #Pediatrics