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genetics pediatrics 21hydroxylasedeficiency diagnosis encephalopathy management posterior praderwilli pres reversible
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Hirsutism & acne • Infertility ... #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
may precede the neurologic ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs ... diagnosis #management #neurology
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