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diagnosis genetics 21hydroxylasedeficiency 21ohd encephalopathy endocrinology hematology infant leukostasis lysis neurology physicalexam posterior praderwilli pres reversible tls tumor
Clinical features of shock from dehydration in an infant Decreased level of consciousness Sunken fontanelle Dry mucous
Clinical features of shock ... from dehydration ... #PhysicalExam #Signs ... #Symptoms #Shock ... #Peds #Pediatrics
Leukostasis vs Tumor Lysis Syndrome Leukostasis: • Pathophysiology: Large, immature blasts and high WBC count cause hyperviscosity
Leukostasis: • Pathophysiology ... • Symptoms: ... WBC >100k, + lab signs ... : • Pathophysiology ... TLS #diagnosis #management
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
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds ... #pediatrics
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Infection/Sepsis/Shock ... Etiology: • Pathophysiology ... Neurological symptoms ... Seizures: Treat with AEDs ... #diagnosis #management
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