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disease genetics pathophysiology 21hydroxylasedeficiency 21ohd algorithm encephalopathy features incomplete management neurology posterior praderwilli pres reversible signs
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. Affects
Kawasaki Disease ... Early diagnosis ... Features #Signs #Symptoms ... #Diagnosis #Peds ... #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... delayed puberty -> Infertility ... pathophysiology #peds ... #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... pathophysiology #genetics #endocrinology ... #peds #pediatrics
Evaluation of suspected incomplete Kawasaki Disease 1. AHA consensus recommendations 2. Infants ≤6 months old on day ≥7
suspected incomplete Kawasaki ... if they have no clinical ... echo is positive, treatment ... #Diagnosis #Peds ... #Pediatrics #Kawasaki
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
brain PRES Clinical ... Neurological symptoms ... epilepticus Treatment ... underlying cause • Treatment ... Seizures: Treat with AEDs
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