8 results
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Signs/Symptoms ... > Neonatal and infantile ... #genetics #pathophysiology ... #peds #pediatrics
Guillain-Barré Syndrome (GBS)
Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness
Epidemiology:
 • Incidence: 1
Guillain-Barré Syndrome ... transplantation CLINICAL ... the underlying pathophysiology ... #Syndrome #diagnosis ... #management #neurology
Floppy Baby Syndrome
 • Infantile Botulism
 • Acute Flaccid Myelitis
 • Guillain Barre
 • Neonatal Myasthenia
Infantile Botulism ... Myelitis • Guillain Barre ... Myasthenia Gravis Clinical ... LMN signs - Assess ... #pediatrics #differential
Guillain-Barre Syndrome - Summary

Acute AIDP that presents with rapidly progressive flaccid weakness

Epidemiology:
 • 1-2 cases/100,000 per
Guillain-Barre Syndrome ... Pathophysiology ... Clinical Features ... CSF PROTEIN - NORMAL ... #management #treatment
Common Variable Immunodeficiency (CVID)

What?
CVID: Immunodeficiency disorder with hypogammaglobulinemia -> increased infection risk secondary to impaired B-cell
to 8 years Clinical ... disease • Liver ... : • Nephrotic syndrome ... infections (Epstein-Barr ... syndrome, HIV)
Sarcoidosis - Diagnosis and Management Summary
Epidemiology
1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... heart (2-5%), liver ... (pain/abnormal ... #Signs #Symptoms
Disseminated Intravascular Coagulation (DIC) Overview

Increased Clotting and Consumption of Clotting Factors

Findings:
 • Bleeding
 • Recent history
protein C and S Pathophysiology ... organ damage Clinical ... coagulation studies - PBS ... DIC • Severe Liver ... causes #treatment #management
Hemophagocytic Lymphohistiocytosis (HLH)

High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
recognition and management ... Clinical Presentation ... • Common Signs ... - Elevated liver ... Pathophysiology