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Medicine (MD/DO)
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Neurology, Ophthalmology & Otology
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Neurocutaneous Disorders

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Neurology, Ophthalmology & Otology | Medicine (MD/DO) School Study Aid

Neurocutaneous Disorders
6 Picmonics to Learn | 14 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
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4 mins
Neurofibromatosis Type 2
Pathophysiology
Autosomal-Dominant
Chromosome 22
Signs and Symptoms
Vestibular Schwannoma
Meningioma
Ependymoma
Cafe Au Lait Spots
Cataracts
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2 mins
Tuberous Sclerosis
Characteristics
Autosomal Dominant
Signs and Symptoms
Hamartomas in CNS and Skin
Phakoma
Subependymal Giant Cell Astrocytoma
Seizures
Intellectual Disability (Mental Retardation)
Adenoma Sebaceum
Shagreen Patch
Ash-leaf Spots
Renal Angiomyolipoma
Cardiac Rhabdomyoma
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2 mins
Sturge Weber Syndrome
Pathophysiology
GNAQ Gene
Signs and Symptoms
Port Wine Stain
Arterial Venous Malformation
Leptomeningeal Angiomas
Intellectual Disability
Seizures
Pheochromocytoma
Glaucoma
Tram-Track Calcifications
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3 mins
Von Hippel-Lindau Disease
Pathophysiology
Chromosome 3
Presentation
Hemangioblastomas
Medulla, Retina, Cerebellum
Cysts
Kidney, Liver, Pancreas
Develop Bilateral Renal Carcinomas
Pheochromocytomas
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2 mins
Ataxia Telangiectasia
Pathophysiology
Autosomal Recessive
ATM Gene
Defect in DNA repair
Signs & Symptoms
Cerebellar defects
Spider Angiomas
Sensitive to Radiation
Defective Tumor Suppressor Gene
Increased risk of Cancer, Leukemias, and Lymphomas
Increased AFP levels
IgA deficiency
Repeated sinopulmonary infections
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2 mins

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