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diagnosis neurology management pediatrics syndrome 21hydroxylasedeficiency 21ohd als amyotrophic cord dementia disorders encephalopathy endocrinology geriatrics heat heatstroke illness lateral mncd
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... PraderWilli #Syndrome #genetics ... #pathophysiology ... #peds #pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
loss of autonomy 2) ... (parkinsonian signs ... hyperorality, - 25% genetic ... MNCD #Dementia #Differential ... #Subtypes #Classification
Spinal Cord Disorders - Differential Diagnosis Framework Spinal cord neurological lesion: Clinical findings: • Symptoms and signs below
Cord Disorders - Differential ... and signs below ... Non-compressive Spinal Cord Causes ... Spinal injuries 2. ... #algorithm
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... - Causes progressive ... the limbs; (2) ... fasciculations Common Symptoms ... conditions listed in differential
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Heat Stroke - Differential ... Collapse: • Pathophysiology ... → Syncope • Signs ... /Symptoms: - Lightheadedness ... encephalopathy) 2.
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... Reversible course Differential ... the underlying cause ... until cause identified
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Bilateral signs ... and/or symptoms ... • Infectious causes ... management #neurology #differential
Vasculitis and Vasculitides - Differential Diagnosis Framework When to Consider Vasculitis: • Purpura, ischemic skin lesions •
tract, and often causes ... Presentation - Systemic Symptoms ... purpura: strong sign ... vasculitis) - 2 ... #rheumatology #classification
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