6 results
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
Plain radiography ... and gut, which causes ... #clincial #peds ... #infant #NEJM # ... Wolmans #radiology #xray
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 ... Signs/Symptoms/Complications ... endocrinology #peds ... #pediatrics
Newborn Infant - Routine Examination

Birthweight, gestational age and birthweight percentile are noted.
General observation Of the baby's
is also a late sign ... Any intra-abdominal ... usually renal in ... #Examination #Peds ... #Pediatrics #Diagnosis
Cushing's Syndrome - Hypercortisolism - Diagnosis and Clinical Features
1) Skin
 • Thin, easily bruisable skin with
Diagnosis and Clinical ... classically purple abdominal ... the abdomen for adrenal ... and/or CT, abdominal ... Hypercortisolism #Diagnosis #signs
Vasculitis and Vasculitides - Differential Diagnosis Framework

When to Consider Vasculitis:
 • Purpura, ischemic skin lesions
 •
tract, and often causes ... - GI tract: abdominal ... mucositis - Rash ... purpura: strong sign ... pain, infarct
Vasculitis - Differential Diagnosis Framework

When to Consider Vasculitis:
• Purpura, ischemic skin lesions
• Mononeuritis multiplex
• Hematuria, proteinuria,
pulmonary and renal ... purpura: Strong sign ... , mucositis • Rash ... tract, and often causes ... pain and GN Anti-GBM