Rare Diseases

Adhesive Arachnoiditis 

Adhesive Arachnoiditis – 7 Interesting Facts Description Also Called Definitions Types Epidemiology Etiology and Pathogenesis Causes Pathogenesis History and Physical Clinical Presentation Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Imaging Studies Management Complications Prognosis Prevention and Screening Guidelines and Resources Guidelines United Kingdom Guidelines Review Articles MEDLINE Search Patient Information References General References Used

Glaucomatocyclitic Crisis (Posner Schlossman Syndrome) 

Glaucomatocyclitic Crisis (Posner Schlossman Syndrome)   Description Also Called Definitions Epidemiology Who Is Most Affected Incidence/Prevalence Risk Factors Associated Conditions Etiology and Pathogenesis Causes Pathophysiology History and Physical History Clinical Presentation History of Present Illness (HPI) Physical Overview Slit-lamp Biomicroscopy Intraocular Pressure (IOP) Measurement Gonioscopy Optic Nerve Head and Retinal Nerve Fiber Layer (RNFL) Fundus …

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Neuralgic Amyotrophy 

Neuralgic Amyotrophy – Introduction Also Called Types Epidemiology Who Is Most Affected Incidence/Prevalence Possible Risk Factors Associated Conditions Etiology and Pathogenesis Causes History and Physical History Chief Concern (CC) History of Present Illness (HPI) Family History (FH) Physical General Physical Skin Neuro Diagnosis Making the Diagnosis Differential Diagnosis Testing Overview Imaging Studies Cerebrospinal Fluid (CSF) Analysis …

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Neuromyelitis Optica Spectrum Disorder  

Neuromyelitis Optica Spectrum Disorder   Synonyms Epidemiology & Demographics Incidence Prevalence Predominant Sex & Age Peak Incidence Risk Factors Genetics Physical Findings & Clinical Presentation Findings depend on the location of the CNS lesion(s) and may include the following: Etiology Differential Diagnosis Optic Neuritis Transverse Myelitis Workup NMOSD remains a clinical diagnosis, supported by serologic studies …

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Lymphocytic Hypophysitis 

Lymphocytic Hypophysitis  Alarm Signs and Symptoms Epidemiology Etiology and Risk Factors What causes Lymphocytic Hypophysitis? Risk Factors What increases the risk of Lymphocytic Hypophysitis? Diagnosis Approach to Diagnosis Workup History Physical Examination Laboratory Tests Imaging Studies Diagnostic Procedures Possible presenting symptoms in adults with pituitary hormone deficiencies Hormone deficiency Presenting symptoms Adrenocorticotropic hormone Acute: weakness, …

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Li Fraumeni syndrome

The early start of numerous primary malignancies, including as brain tumors, adrenocortical carcinoma (ACC), leukemias, breast cancer, soft tissue and bone sarcomas, and other cancers, is the hallmark of this uncommon genetic cancer predisposition disease. Incidence How common is Li Fraumeni syndrome? More than 400 families with Li-Fraumeni (SLF) have been described in the literature.  …

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