Connor Shared "Step 1 Path" - 74 Picmonics

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Step 1 Path

Ehlers-Danlos Syndrome Types
Types
Types 1 and 2 - Classical
Type V Collagen Mutation
Joints and Skin
Type 3 - Hypermobility
Most Common
Tenascin X Deficiency
Joint Instability
Type 4 - Vascular
Type III Collagen Mutation
Vascular and Organ Rupture
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2 mins
McArdles Disease
Pathophysiology
Type V Glycogen Storage Disease
Muscle Glycogen Phosphorylase Deficiency
Signs and Symptoms
Increased Glycogen in Muscle
Painful Muscle Cramps
Myoglobinuria
Normal Lactic Acid
Treatment
Vitamin B6
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2 mins
Pompe Disease
Pathophysiology
Type II Glycogen Storage Disease
Autosomal Recessive
Deficiency of Lysosomal Alpha 1,4 Glucosidase
Acid Maltase
Signs and Symptoms
Hypertrophic Cardiomyopathy
Hepatomegaly
Macroglossia
Hypotonia
Diagnosis
Increased Glycogen within Lysosomes
Increased Lactate Dehydrogenase (LDH)
Increased Creatine Kinase (CK/CPK)
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2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
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3 mins
Wilson's Disease Symptoms
Cirrhosis
Hepatocellular Carcinoma
Basal Ganglia Degeneration
Dementia
Dyskinesia
Asterixis
Kayser-Fleischer Rings
Slit Lamp Exam
Hemolytic Anemia
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2 mins
Tuberous Sclerosis
Characteristics
Autosomal Dominant
Signs and Symptoms
Hamartomas in CNS and Skin
Phakoma
Intellectual Disability (Mental Retardation)
Seizures
Subependymal Giant Cell Astrocytoma
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 (Mental Retardation)
Seizures
Pheochromocytoma
Glaucoma
Tram-Track Calcifications
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2 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
Nerve Palsies - Klumpke's Palsy
Nerve
C8 to T1 Roots
Lower Trunk
Causes
Upward Arm Force during Delivery
Adult Trauma
Grabbing Tree Branch to Break a Fall
Muscle Affected
Intrinsic Hand Muscles
Presentation
Claw Hand
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1 min
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
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1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
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1 min
Amyotrophic Lateral Sclerosis (ALS)
Assessment
Progressive Muscle Weakness
Systemic Muscle Wasting
Fasciculations
Spasticity
Fatigue
Considerations
Riluzole (Rilutek)
Moderate Exercise
No Cognitive Decline
Respiratory Support
Palliative Care
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2 mins
Wernicke-Korsakoff Syndrome
Thiamine deficiency
Confusion
Ophthalmoplegia
Ataxia
Korsakoff
Confabulation
Personality Changes
Memory loss
Alcoholics
Damage to medial dorsal nucleus
Damage to mammillary bodies
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2 mins
Gilbert's Syndrome
Pathophysiology
Decreased UDP-Glucuronosyltransferase Activity
Decreased Bilirubin Conjugation
Signs and Symptoms
Often Asymptomatic
Jaundice (Mild)
Fasting
Stress
Alcohol Intake
Labs
Increased Unconjugated Bilirubin
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2 mins
Crigler-Najjar Syndrome Type 1
Pathophysiology
Autosomal Recessive
Absent UDP-glucuronosyltransferase
Symptoms
Neonatal Jaundice
Kernicterus
Diagnosis
Normal Liver Function Tests
Elevated Unconjugated Bilirubin
Treatment
Phototherapy
Plasmapheresis
Calcium Phosphate and Orlistat
Death often by Age 2
Considerations
No Response to Phenobarbital
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3 mins
Wilson's Disease Pathophysiology
Autosomal Recessive
Mutation in ATP7B gene
Chromosome 13
Decrease in Ceruloplasmin
Inadequate copper excretion
Liver
Brain
Kidney
Cornea
Joints
Treat with Penicillamine
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2 mins
Hemochromatosis Pathophysiology
Pathophysiology
Hemosiderin Deposition
Autosomal Recessive
HLA-A3
Secondary to Transfusion Therapy
Increase Iron
Increase Ferritin
Increased Transferrin Saturation
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2 mins
Turner Syndrome
Signs and Symptoms
Female (XO)
Short stature
Shield Chest
Cystic Hygroma (Webbing of Neck)
Lymphedema in Hands and Feet
Ovarian Dysgenesis
Streak Ovary
Decreased Estrogen
Increased FSH
Increased LH
Dysgerminoma
Bicuspid Aortic Valve
Preductal Coarctation of the Aorta
Horseshoe Kidney
Menopause before Menarche
Amenorrhea
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5 mins
Klinefelter's Syndrome
Pathophysiology
Male (XXY)
Signs and Symptoms
Eunuchoid Body Shape
Gynecomastia and Female Hair Distribution
Testicular Atrophy
Dysgenesis of Seminiferous Tubules
Possible Developmental Delay
Hypogonadism
Decreased Inhibin B
Increased FSH
Abnormal Leydig Cell Function
Decreased Testosterone
Increased LH
Increased Estrogen
Barr body (inactivated X chromosome)
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6 mins

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