6 results
diagnosis management genetics 21hydroxylasedeficiency 21ohd als amyotrophic encephalopathy lateral myelitis posterior praderwilli pres reversible rheumatology sclerosis transverse vasculitis
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 ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #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 ... Reversible course Differential ... Seizures: Treat with AEDs
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... fasciculations Common Symptoms ... conditions listed in differential ... Lateral #Sclerosis #neurology
Vasculitis - Differential Diagnosis Framework When to Consider Vasculitis: • Purpura, ischemic skin lesions • Mononeuritis multiplex • Hematuria, proteinuria,
Vasculitis - Differential ... Presentation: Systemic Symptoms ... purpura: Strong sign ... affects the skin, neurologic ... • Progressive symptoms
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... diagnosis #management #neurology ... #differential
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