12 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
from UpToDate and ... See IEM schema for ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... #IEM #Laboratory
A schema of the pathophysiology of the inborn errors of metabolism, excluding complex storage diseases. Helps
the connections and ... MetabolicEmergency #Genetics ... #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 ... • Genetic Disorder ... ) Language and ... #Causes #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
neurocognitive disorders ... Aphaso-apraxo-agnosia syndrome ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential
Causes of Growth Discrepancy: Large for Gestational Age - Differential Diagnosis Algorithm
Maternal Factors:
 • Multiparity
 •
Gestational Age - Differential ... Diagnosis Algorithm ... Aboriginal, Hispanic, and ... >41 weeks) • Genetic ... disorder (e.g.
Causes of Failure to Thrive - Differential Diagnosis Algorithm
Adequate Calorie Consumption
 - Increased Losses:
Diagnosis Algorithm ... • Metabolic Disorders ... • Syndromes ... inadequate protein and ... #Causes #Peds #Pediatrics
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Weakness - Differential ... Non-neuromuscular disorder ... Lack of UMN/LMN signs ... • Inflammatory disorders ... Malignancy-associated myositis • Genetic
Spinal Cord Disorders - Differential Diagnosis Framework

Spinal cord neurological lesion:
Clinical findings:
 • Symptoms and signs below
Spinal Cord Disorders ... - Differential ... signs below the ... MCTD, Sjogren syndrome ... #algorithm
Rhabdomyolysis - Differential Diagnosis Framework
Rhabdomyolysis = Destruction of skeletal muscle with leakage of contents into circulation.
Rhabdomyolysis - Differential ... Compression • Genetic ... Mitochondrial disorders ... Neuroleptic malignant syndrome ... Amphetamines, LSD UW IM