22 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 ... Tetralogy #Fallot #diagnosis ... management #cardiology #peds ... #pediatrics #treatment
Infographic depicting the main pearls of various types of congenital adrenal hyperplasia for the medical student.
#CAH #algorithm ... #causes #pediatrics ... #comparison #treatment ... #Peds #Endocrinology ... #Adrenal #pathophysiology
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
inflamed epiglottis Clinical ... #Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Diagnosis Algorithm ... Syndromic • Genetic ... #Diagnosis #Algorithm ... #Causes #Peds # ... Pediatrics
Cor triatriatum
 • Epidemiology
 • Etiology
 • Associated Lesions
 • Differentials Diagnosis
 • Anatomy - Sinister,
Associated Lesions • Differentials ... Physiology • Clinical ... • Treatment ... cardiology #summary #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Geriatrics #Workup