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diagnosis neurology 21hydroxylasedeficiency 21ohd barre encephalopathy gbs genetics guillain kleefstra posterior pres reversible signssymptoms
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
Kleefstra Syndrome ... genetic disorder, caused ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
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
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
Etiology: • Pathophysiology ... Neurological symptoms ... the underlying cause ... #diagnosis #management ... #neurology
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
Guillain-Barré Syndrome ... than one after symptom ... the underlying pathophysiology ... #diagnosis #management ... #neurology
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