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

A table of lab values compiled from UpToDate and
Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Neonatology #Peds ... #Pediatrics #Table ... #NICU #Genetics
Epiglottitis - Swollen inflamed epiglottis 
Clinical (Rapid onset) 
 • Fever 
 • Sore throat
inflamed epiglottis Clinical ... #Epiglottitis #Signs ... #Causes #Diagnosis ... #Differential # ... Peds #Pediatrics
Causes of Enuresis - Differential Diagnosis Algorithm
Primary Nocturnal Enuresis (Urinary Control Never Achieved)
 • Delayed Maturation
Causes of Enuresis ... - Differential ... Diagnosis Algorithm ... Unstable Bladder ... #Causes #Peds #
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... Syndromic • Genetic ... #Causes #Peds # ... Pediatrics
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics ... #Peds
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Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... MRI, iADL scale, ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
It is important to recognize Acute Decompensated Heart Failure (ADHF) as more than just simply a
Signs of poor perfusion ... Signs of congestion ... the determined cause ... #diagnosis #differential ... #algorithm #management