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

A table of lab values compiled from UpToDate and
additions, for diagnosing ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Tetralogy of Fallot Summary
 • Anatomy
 • Incidence
 • Pathophysiology
 • Presentation
 • Common Variants
 •
• Incidence • Pathophysiology ... • Associated Genetic ... Syndromes • “Pink ... Tetralogy #Fallot #diagnosis ... #pediatrics #treatment
Causes of Depressed / Lethargic Newborn - Differential Diagnosis Algorithm
Maternal Related:
 • Drugs (Ex. SSRI)
 •
Diagnosis Algorithm ... Respiratory Distress Syndrome ... Sepsis Other: • Anemia ... #Causes #Peds # ... Pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... • Genetic Disorder ... #Causes #Peds # ... Pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
- Progressive amnesia ... Aphaso-apraxo-agnosia syndrome ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup
Acromegaly - Diagnosis and Management Summary - GrepMed Handbook 

Clinical Presentation: 
 • Classic Acromegaly: frontal
paresthesias (carpal ... malignancy Pathophysiology ... Differential Diagnosis ... phenytoin, minoxidil), genetic ... Beckwith Wiedemann syndrome
Paraproteinemias

Entities That Can Feature A Monoclonal Protein/M Component:
• MM
• WM
• MGUS
• MGCS
• MGRS
• Splenic Marginal Zone
(-) hemolytic anemia ... Thrombosis in vascular beds-renal ... Paraproteinemias #Hematology ... #Monoclonal #Differential ... #Diagnosis #Oncology
Causes of Purpura or Easy Bruising in Children

Platelet count reduced, i.e. thrombocytopenia
 - Increased platelet destruction
- Fanconi anaemia ... - Aplastic anaemia ... Bruising #Causes #peds ... #pediatrics #diagnosis ... #differential #
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... polycythaemia or anaemia ... #Examination #Peds ... #Pediatrics #Diagnosis