3 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 ... Peds #Pediatrics #Table ... #NICU #Genetics
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Weakness - Differential ... Upper Motor Neuron ... Neuromuscular Junction ... changes - Common pattern ... Malignancy-associated myositis • Genetic
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
Syndrome - Periodic Fever ... (FMF) PATHOPHYSIOLOGY ... DIFFERENTIAL DIAGNOSIS ... neutropenia (CyN) This genetic ... dominant inheritance pattern