34 results
Harlequin Ichthyosis

Rare genetic disorder that results in thickened skin over nearly the entire surface of the
Ichthyosis Rare genetic ... Harlequin #Ichthyosis #clinical ... physicalexam #pediatrics #genetics
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 ... 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 ... MetabolicEmergency #Genetics ... Pathophysiology #Diagnosis #Algorithm ... Peds #Pediatrics #Table
T-LGL leukemia - T-CeIl Large Granular Lymphocytic Leukemia
Clinical
 - Persistent (>6mo) lymphocytosis (2-20k) with proven clonality
T-LGL leukemia - ... Granular Lymphocytic Leukemia ... Clinical - Persistent ... ALK, TFH, CD25 Genetics ... Same morphologic/clinical
B-Cell Acute Lymphoblastic Leukemia/Lymphoblastic Lymphoma
Clinical
 - Primarily a disease of childhood, 75% <6 yo
 - Increased
Lymphoblastic Leukemia ... Lymphoblastic Lymphoma Clinical ... often based on genetics ... Lymphoblastic #Leukemia
Causes of Hypomagnesemia - Differential Diagnosis Algorithm
GI LOSS - FeMg < 2-2.5% or 24h Urine Mg
Differential Diagnosis Algorithm ... other EGFR ab • Genetics ... Differential #Diagnosis #Algorithm
Causes of Pelvic Organ Prolapse - Differential Diagnosis Algorithm
Herniation of one or more pelvic organs
Risk factors:
Differential Diagnosis Algorithm ... Risk factors: genetics ... Differential #Diagnosis #Algorithm
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... • Deletion of critical ... PraderWilli #Syndrome #genetics
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
insufficiency - Critical ... illness - Genetic ... Sulfamethoxazole - Genetic ... Aldosterone #Comparison #Table
Eosinophilia - Differential Diagnosis Algorithm
Idiopathic Eosinophilia
Primary Eosinophilia:
 • Primary hypereosinophilic syndrome
 • Eosinophilic Leukemia
 • MPN/MDS
Differential Diagnosis Algorithm ... • Eosinophilic Leukemia ... eosinophilia • Familial/Genetic ... Differential #Diagnosis #Algorithm