13 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... disorder that results ... #physicalexam #pediatrics ... #genetics #dermatology
Bleeding disorders in children

#Bleeding #Disorders #Differential #Hematology #Pediatrics #Peds
Bleeding disorders ... children #Bleeding #Disorders ... #Differential # ... Hematology #Pediatrics
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
the lab values table ... , UpToDate #Pediatrics ... MetabolicEmergency #Genetics ... Diagnosis #Algorithm #Differential ... #Table #IEM #NICU
Blood Disorders - Markers and Differential Diagnosis Algorithm 
Acute
 • Myloid (AML) - CD13, CD33, CD34,
- Markers and Differential ... o CML - bcr-able ... o Other bcr-able ... #hematology #Markers ... #Differential #
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
Critical illness - Genetic ... disorders Aldosterone ... disorders Dr ... Hypoaldosteronism #Differential ... Aldosterone #Comparison #Table
Etiologies of Hypernatremia - Differential Diagnosis
GI losses / Insensible losses
Sodium Overload
Transcellular Movement of Water
Central Diabetes Insipidus
Hypernatremia - Differential ... - Various rare genetic ... - Various rare genetic ... Hypernatremia #Differential ... #Diagnosis #Table
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Syndromic • Genetic ... Disorder (e.g. ... DevelopmentalDelay #Differential ... #Causes #Peds #Pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders ... hallucinations - Movement disorders ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... Workup #Diagnosis #Geriatrics
Inherited Qualitative Platelet Defects
Bernard-Soulier Syndrome
 • Defect of adhesion due to a lack of GP Ib/IX/V
MYH9-Related Disorder ... Defects #comparison #table ... #differential # ... diagnosis #hematology