26 results
Gaucher Disease 

Pathophsiology
 • Lysosomal storage disorder
 • Deficiency of ß-glucocerebrosidase
• Accumulation of glucosylceramide in macrophages
Diagnosis
Gaucher Disease ... Pathophsiology ... gene Clinical Manifestations ... involvement (type 2 and ... #Diagnosis #Signs
Characteristic clinical manifestations of Down syndrome 
 
Typical craniofacial appearance 
 • Round face and flat
Characteristic clinical manifestations ... protruding tongue ... celiac disease ... PhysicalExam #Features #Signs ... #Manifestations
Lyme Disease: Early and Late Clinical manifestations
Stage 1. Localized
 • EM appears 7-14 days at the
Lyme Disease: Early ... manifestations ... • Heralded by neurologic ... WuidQ #Lyme #Disease ... #diagnosis #signs
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
rubbing • Atopic diseases ... > Keratoconus Signs ... Ring • Munson's sign ... • Rizutti's Sign ... #ophthalmology
Neuromyelitis Optica (NMO) - Clinical Manifestations
 • Optic neuritis: Reduced visual acuity, ranging from mild to
NMO) - Clinical Manifestations ... mainly AQP4-lgG disease ... #Optica #NMO #Manifestations ... #diagnosis #neurology ... #symptoms #signs
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
: Pathogenesis and ... Ocular Manifestations ... #Xeropthalmia #pathophysiology ... #ophthalmology ... #diagnosis #signs
Manifestations of Anaphylaxis by Body System

Dermatologic/mucosal

 - Eyes: periorbital swelling/erythema, injected conjunctiva, tears

 - Oral mucosa:
Manifestations of ... angioedema of the tongue ... abdominal cramps Neurologic ... Diagnosis #Allergy #Signs ... #OrganSystems #Manifestations
Kawasaki Disease: Clinical Findings
Diagnostic Criteria - Fever and 4/5 of the following:
 • Conjunctivitis
 • Polymorphous
Kawasaki Disease ... & feet Signs ... Lips, Strawberry Tongue ... Criteria #Diagnosis #Pathophysiology ... #Signs #Symptoms
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... LMN signs in the ... LMN signs to determine ... LMN signs on examination ... EMG: LMN Signs in
Acute Spinal Cord Injuries: Pathogenesis and clinical findings
 • Anterior Cord Syndrome -> Anterior spinal artery
clumsiness in hands ... Syndromes #diagnosis #pathophysiology ... #signs #symptoms ... #msk #orthopedics ... #neurology