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diagnosis pathophysiology 21hydroxylasedeficiency 21ohd classification differential disease endocrinology examination features hemophagocytic hlh kawasaki lymphohistiocytosis management newborn physicalexam praderwilli rheumatology signs
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
febrile vasculitic syndrome ... Affects children ... Disease #Features #Signs ... #Symptoms #Diagnosis ... #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... =>Prader-Willi Syndrome ... Signs/Symptoms ... #genetics #pathophysiology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH) Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
Overwhelming clinical syndrome ... infants < 3 months ... Diagnosis: HLH signs ... and symptoms can ... management #treatment #hematology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
deficiencies present in infants ... Signs/Symptoms/Complications ... pathophysiology #genetics ... 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 ... paediatrician or geneticist ... are observed for signs ... #Examination #Peds ... #Pediatrics #Diagnosis
Vasculitis and Vasculitides - Differential Diagnosis Framework When to Consider Vasculitis: • Purpura, ischemic skin lesions •
vasculitis) - Affects ... • Cogan Syndrome ... Presentation - Systemic Symptoms ... purpura: strong sign ... testes -> pain, infarct
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