7 results
Lab patterns seen in Inborn Errors of Metabolism

A table of lab values compiled from UpToDate and
Lab patterns seen ... for diagnosing acute ... metabolicemergency-pathophysiology-differential-pediatrics-metabolism-algorithm-diagnosis ... #Table #NICU #Genetics ... IEM #Laboratory #Patterns
An Approach to Acute Dyspnea - Diagnostic Framework

From the HPI, PMH, vitals, focused physical exam (e.g.
An Approach to Acute ... one of 8 basic patterns ... Medicine #Dyspnea #Acute ... #Workup #Algorithm
Hypocalcemia Workup - Differential Diagnosis Algorithm
 • Low Magnesium, High Magnesium - Functional Hypoparathyroidism
 • High
Hypocalcemia Workup ... Differential Diagnosis Algorithm ... Hypoparathyroidism: Autoimmune, Genetic ... , Infiltrative disorders ... Hyperphosphatemia, Acute
Leigh Syndrome 
History: 19-month-old girl with hypotonia, developmental 
delay, failure to thrive, and bilateral optic disc
Mitochondrial disorder ... pons • DWI+ in acute ... biochemical & genetic ... various imaging patterns
Lymphomas and Lymphoproliferative Disorders - Differential Diagnosis Algorithm
Hodgkin Lymphoma ~40% - Characteristic For Reed-Sternberg (RS) Cells
Lymphoproliferative Disorders ... Differential Diagnosis Algorithm ... involvement, irregular pattern ... Treated Like Acute ... #differential #algorithm
Weakness - Differential Diagnosis Framework

Approach To Weakness:
 • Non-neuromuscular disorder (Cardiac, pulmonary etc)
 • CNS ->
Non-neuromuscular disorder ... Impairment: • Acute ... changes - Common pattern ... Malignancy-associated myositis • Genetic ... dystrophies Work
PFAPA Syndrome - Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis

EPIDEMIOLOGY:
PFAPA is the most common syndrome entailing
resolve between acute ... joints in the acute ... contributor to this disorder ... neutropenia (CyN) This genetic ... dominant inheritance pattern