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 ... for diagnosing acute ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
pons • DWI+ in acute ... 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 ->
Impairment: • Acute ... nervous system: Brain ... changes - Common pattern ... Malignancy-associated myositis • Genetic ... dystrophies Work