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neurology differential syndrome 21hydroxylasedeficiency 21ohd alkaptonuria als amyotrophic barre blackurine crisis encephalopathy endocrinology gbs genetics guillain lateral myelitis posterior pres
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 ... non-arousable, decr urine ... endocrinology #peds ... #pediatrics
Alkaptonuria (Black Urine Disease) Urine turns dark when left standing due to oxidation of homogentisic acid Clinical
Disease) Urine ... intervertebral discs Management ... Alkaptonuria #BlackUrine #Peds ... #Pediatrics #Diagnosis ... #Pathophysiology
Rhabdomyolysis - Differential Diagnosis Framework and Management Summary Causes of Rhabdomyolysis: • Trauma: - Immobilization - Crush injury - Compartment
- Differential Diagnosis ... Framework and Management ... Summary Causes ... #Management #causes ... #treatment #nephrology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... the underlying cause ... until cause identified ... #management #neurology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... - Causes progressive ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology ... #diagnosis #management
Transverse Myelitis Overview Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... bouts of HTN Diagnostic ... Bilateral signs and/or symptoms ... • Infectious causes ... #management #neurology
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
Incidence: 1 to 2 cases ... bulbar muscles DIAGNOSIS ... than one after symptom ... the underlying pathophysiology ... #management #neurology
Scleroderma Renal Crisis (SRC) Clinical Presentation of Scleroderma Renal Crisis: 1) Acute kidney injury 2) Abrupt onset of hypertension 3)
anemia (MAHA) Pathophysiology ... , add other BP meds ... • Refractory cases ... #rheumatology #nephrology ... #diagnosis #management
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