Rare Diseases

Charles Bonnet Syndrome 

Charles Bonnet Syndrome – 21 Interesting Facts Introduction Synonyms Definitions Epidemiology Who Is Most Affected Incidence/Prevalence Risk Factors Etiology and Pathogenesis Causes Pathogenesis History and Physical History Chief Concern (CC) History of Present Illness (HPI) Medication History Past Medical History (PMH) Family History (FH) Social History (SH) Physical HEENT Neuro Diagnosis Making the Diagnosis Differential Diagnosis …

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Castleman Disease 

Castleman Disease – 9 Interesting Facts Synonyms Types Epidemiology Who Is Most Affected Incidence/Prevalence Risk Factors Associated Conditions Etiology and Pathogenesis Causes Pathogenesis History and Physical Clinical Presentation Table 1: Clinical Findings UCD vs. MCD Clinical Findings UCD (n=719) MCD (n=416) Lymphadenopathy 38% 65% Fever 9.9% 51% Weight loss 8.8% 28% Fatigue 7.2% 21% Night sweats …

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Brown Syndrome 

Brown Syndrome – 13 Interesting Facts Introduction Also Called Definitions Types Epidemiology Etiology and Pathogenesis Causes Pathogenesis Extraocular Musculature Pathogenic Mechanisms History and Physical Clinical Presentation History Physical Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Imaging Studies Management Management Overview Conservative Management For Inflammatory Acquired Brown Syndrome Tendon-Directed Surgery Complications Prognosis Prevention and Screening Guidelines …

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Bartter Syndrome 

Bartter Syndrome – 7 Interesting Facts Pitfalls Urgent Action Patients require prompt and vigorous IV fluid replacement in situations of physiologic stress (eg, surgical procedures, trauma) where serum electrolyte levels drop rapidly Introduction Classification Types of Bartter Syndrome There are 5 genetic types (Types I–V), based on the affected ion transporters: Type Gene Affected Defect Additional …

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Arthrogryposis Multiplex Congenita 

Arthrogryposis Multiplex Congenita – Introduction Synonyms Types Epidemiology Who Is Most Affected Incidence/Prevalence Associated Conditions Etiology and Pathogenesis Causes History and Physical History Chief Concern (CC) History of Present Illness (HPI) Physical General Physical Skin Extremities Neuro Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Management Management Overview Surgery and Procedures Other Management Complications and Prognosis …

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Aceruloplasminemia

Aceruloplasminemia – What is this disease? Epidemiology – What is the incidence? What causes this condition? What are the symptoms of Aceruloplasminemia? Clinical description Very Frequent (common) symptoms Frequent (common) symptoms Occasional symptoms How is this condition diagnosed? Diagnostic methods Differential diagnosis Differential diagnoses include other forms of later-onset, slowly progressing NBIA including Antenatal diagnosis …

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