21 results
Characteristic clinical manifestations of Down syndrome 
 
Typical craniofacial appearance 
 • Round face and flat
manifestations of Down syndrome ... Congenital heart defects ... #Downs #Syndrome ... #PhysicalExam #Features ... #Signs #Manifestations
Kawasaki Disease (Mucocutaneous Lymph Node Syndrome) 
An rare systemic acute febrile vasculitic syndrome. Aetiology unknown. 
Affects
Kawasaki Disease ... febrile vasculitic syndrome ... Affects children ... #Kawasaki #Disease ... #Features #Signs
Prader-Willi Syndrome: Pathogenesis and clinical findings
 • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... Incr Skeletal fractures ... • Short stature ... #genetics #pathophysiology
Growth Hormone Excess - Pathogenesis and clinical findings
 • Acromegaly and gigantism share the same pathophysiology
share the same pathophysiology ... Carpal Tunnel Syndrome ... Acne • Coarse features ... Cardiovascular disease ... Overproduction #diagnosis #signs
Features of a Sickle Cell Crisis 
Sickle-cell disease - an autosomal recessive blood disorder.
Characterized by red
Features of a Sickle ... Sickle-cell disease ... Sickle cell disease ... The underlying pathophysiology ... #Signs #Symptoms
Hepatopulmonary Syndrome - Diagnosis and Management Summary
A defect in arterial oxygenation due to a gas exchange
Hepatopulmonary Syndrome ... intrinsic lung disease ... HPS Diagnostic Criteria ... resolution of HPS features ... hepatopulmonary #syndrome
Clinical Features of Systemic Lupus (SLE)
General: Fever (50%), Depression, Fatigue (75%), Weight loss (50%)
Eye: Sjögrens (15%)
Skin
Clinical Features ... Restrictive lung defect ... Demyelinating syndromes ... pain (20%) Renal disease ... erythematosus #signs
Evaluation of suspected incomplete Kawasaki Disease

1. AHA consensus recommendations
2. Infants ≤6 months old on day ≥7
incomplete Kawasaki Disease ... other suggestive features ... effusion, or z scores ... clinical and lab signs ... Pediatrics #Kawasaki #Disease
Multiple Sclerosis - Summary

Multiple Sclerosis (MS) is an autoimmune-mediated neurodegenerative disease of the central nervous system
neurodegenerative disease ... • Or brainstem syndromes ... Afferent pupillary defect ... McDonald diagnostic criteria ... taper 3-7 days - Short
Amyotrophic Lateral Sclerosis (ALS) Summary
ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... Presentation: - Disease ... and with limb features ... course of the disease ... : El Escorial criteria