27 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
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
CNS Manifestations of Systemic Lupus Erythematosus (SLE)

Clinical Manifestations: Demyelinating Syndrome, Headache, Movement disorders, Seizure disorders, Aseptic
CNS Manifestations ... SLE) Clinical Manifestations ... Cerebrovascular Disease ... , PRES Pathophysiology ... Erythematosus #SLE #CNS #neurology
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
Xeropthalmia: Pathogenesis and Ocular Manifestations

Decr Visual pigment -> Keratinization, thickening & non-wetting of the conjunctiva
: Pathogenesis and ... Ocular Manifestations ... #Xeropthalmia #pathophysiology ... #ophthalmology ... #diagnosis #signs
Behçet's Syndrome
Systemic disease associated with inflammation of multiple organs, small-vessel vasculitis and large-vessel vasculopathy
Epidemiology:
 • Young
Syndrome Systemic disease ... M > F Clinical Manifestations ... skin injury) • Neurologic ... inhibitors • Uveitis- Ophthalmology ... diagnosis #management #signs
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
rubbing • Atopic diseases ... > Keratoconus Signs ... • Rizutti's Sign ... #Keratoconus #pathophysiology ... #ophthalmology
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