33 results
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 #Differential ... #Table #IEM #NICU
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
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Causes of Developmental ... Delay - Differential ... • Genetic Disorder ... Landau-Kleffner Syndrome ... #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Pathogenesis and clinical ... =>Prader-Willi Syndrome ... #genetics #pathophysiology ... #peds #pediatrics
Hypomagnesemia - Etiologies by Mechanism

Decreased GI Uptake 
 - Poor dietary intake (particularly common in alcoholics)
- Genetic ... - Hungry bones syndrome ... Hypomagnesemia #Differential ... Low #Magnesium #Table ... Classification #Causes
Etiologies of Hypoaldosteronism

Hyporeninemic Hypoaldosteronism (Low Renin, Low Aldosterone)
 - Diabetic Nephropathy 
 - NSAIDs
Non-Hyporeninemic Hypoaldosteronism (Normal
insufficiency - Critical ... illness - Genetic ... Hypoaldosteronism #Differential ... Aldosterone #Comparison #Table ... #Causes
Gerstmann Syndrome
1) Finger agnosia - Inability to name their own fingers, affecting both sides
2) Right-left confusion
Gerstmann Syndrome ... - Inability to differentiate ... patient is still able ... to copy Causes ... (usually left) inferior
Lesions of the Spinal cord - Spinal Cord Syndromes

Spinal cord lesions can result in permanent neurologic
Causes of spinal ... • Extrinsic Causes ... • Intrinsic Causes ... tracts in the anterior ... #lesions #differential
Schematic representation of the major sources of ammonia production and its excretory pathway (GI = gastrointestinal,
gastrointestinal, IMV = inferior ... although hepatic causes ... rare): - Reye syndrome ... deficiency #Ammonia #Pathophysiology ... Hyperammonemia #Differential
BEE Syndromes - Non-inflammatory Causes

Immune-mediated conditions affecting the Brain, Eye, and Ear

Visual or auditory symptoms in
Non-inflammatory Causes ... Non-inflammatory causes ... meningitis • Genetic ... MRI lesions and clinical ... noninflammatory #differential