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diagnosis pediatrics differential neurology causes genetics infant management physicalexam 21hydroxylasedeficiency als amyotrophic brudzinskis chloride clinical dehydration disease disorders endocrinology evaluation
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Signs/Symptoms/Complications ... Late (shock): cold ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology ... endocrinology #peds
Clinical features of shock from dehydration in an infant Decreased level of consciousness Sunken fontanelle Dry mucous
in an infant Decreased ... urine output Cold ... #PhysicalExam #Signs ... #Dehydration #Peds
Hypochloremia - Differential Diagnosis Algorithm Cause - Decreased Intake: • Low salt in diet • Exclusive D5W
Differential Diagnosis Algorithm ... Cause - Decreased ... - Gitelman SIGNS ... acidosis - Cl⁻ decrease ... #Pathophysiology
Causes of Hypotonic Infant (Floppy Newborn) - Differential Diagnosis Algorithm Central Nervous System - Decreased LOC, Axial
Differential Diagnosis Algorithm ... Nervous System - Decreased ... Syndromes - Spinal Cord ... • Central Core ... #Causes #Peds #
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
Brudzinski’s Sign ... Brudzinski's sign ... causes spinal cord ... While the pathophysiology ... PhysicalExam #Pediatrics #Peds
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 Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... , sleep apnea, cor ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Spinal Cord Disorders - Differential Diagnosis Framework Spinal cord neurological lesion: Clinical findings: • Symptoms and signs below
Spinal Cord Disorders ... Framework Spinal cord ... • Symptoms and signs ... Cauda equina- decreased ... differential #algorithm
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
of the spinal cord ... monophasic Pathophysiology ... to the spinal cord ... - Reflexes: decreased ... • Bilateral signs
Heat Illnesses and Heat Stroke - Differential Diagnosis Framework Heat Cramps: • Muscle pain or spasm -
Collapse: • Pathophysiology ... Volume depletion → Decreased ... → Syncope • Signs ... sweaty skin - Decreased ... pulse rate - Core
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... multiple spinal cord ... of UMN and LMN signs ... - Fatigue and decreased ... EMG: LMN Signs in
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