4 results
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
calcification of both adrenal ... and gut, which causes ... #clincial #peds ... #adrenal #calcifications ... #infant #NEJM #
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... deficiencies present in infants ... Signs/Symptoms/Complications ... endocrinology #peds
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
Newborn Infant - ... is also a late sign ... are observed for signs ... measuring the blood ... #Examination #Peds
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
tract, and often causes ... mucositis - Rash ... purpura: strong sign ... Large Vessel: Blood ... testes -> pain, infarct