3 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... of lab values compiled ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
biochemical & genetic ... various imaging patterns ... this case was a complex ... Clinical #MRI #Brain
Weakness - Differential Diagnosis Framework

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