5 results
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
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 ... conditions listed in differential ... Lateral #Sclerosis #neurology ... #diagnosis #management
Myasthenia Gravis Overview

Myasthenia Gravis is an autoimmune disorder of the postsynaptic neuromuscular junction.  Ab to
life-threatening Differential ... test - Cogan sign ... - Peek sign ... Gravis #diagnosis #management ... #neurology
Transverse Myelitis Overview

Focal inflammatory disorder of the spinal cord resulting in rapid onset of weakness, sensory
monophasic Pathophysiology ... • Bilateral signs ... Herpes simplex virus ... Myelitis #diagnosis #management ... #neurology #differential
Posterior Reversible Encephalopathy Syndrome (PRES) Overview

Clinico-Radiological Syndrome, characterized by:
 • Headache
 • Seizures
 • Altered mental
Etiology: • Pathophysiology ... Reversible course Differential ... Seizures: Treat with AEDs ... Syndrome #diagnosis #management ... #neurology