4 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
Leigh Syndrome ... Mitochondrial disorder ... biochemical & genetic ... various imaging patterns ... this case was a complex
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Lymphoproliferative Disorders ... Differential Diagnosis Algorithm ... involvement, irregular pattern ... #Classification ... #pathophysiology
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
PFAPA Syndrome - ... fever (FMF) PATHOPHYSIOLOGY ... contributor to this disorder ... neutropenia (CyN) This genetic ... dominant inheritance pattern