9 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... Metabolism A table ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
Adrenal Insufficiency - Differential Diagnosis Workup Algorithm
Primary Adrenal Insufficiency:
 • Autoimmune primary adrenal insufficiency
 • Adrenoleukodystrophy,
Insufficiency - Differential ... Diagnosis Workup ... Algorithm Primary ... Adrenoleukodystrophy, genetic ... disorder • CAH
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
Causes of Developmental Delay - Differential Diagnosis Algorithm
Isolated Domain Delay - Reduced Respiratory Drive:
 • Cognitive
Developmental Delay - Differential ... Diagnosis Algorithm ... Syndromic • Genetic ... #Diagnosis #Algorithm ... #Causes #Peds #Pediatrics
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Hypocalcemia Workup ... - Differential ... Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... , Infiltrative disorders
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 ... #Diagnosis #Geriatrics
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
- Differential ... Diagnosis Algorithm ... lymphadenopathy more diffuse ... involvement, irregular pattern ... #algorithm
Personality Disorders - Differential Diagnosis Algorithm
• Enduring pattern of experience and behaviour that deviates from cultural
Personality Disorders ... - Differential ... Diagnosis Algorithm ... is stable and of ... #Differential #
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Weakness - Differential ... Non-neuromuscular disorder ... changes - Common pattern ... Malignancy-associated myositis • Genetic ... dystrophies Work