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Pathoma 17: CNS Pathology
Amyotrophic Lateral Sclerosis (ALS)
Assessment
Progressive Muscle Weakness
Systemic Muscle Wasting
Fasciculations
Spasticity
Fatigue
Considerations
Riluzole (Rilutek)
Stretching
Little to No Cognitive Decline
Respiratory Support
Palliative Care
2 mins
Friedreich's Ataxia
Trinucleotide Repeat
GAA Repeat
Frataxin
Mitochondrial Dysfunction
Autosomal Recessive
Hammertoes
High Arches
Kyphoscoliosis
Lateral Corticospinal Tract
Posterior Column
Spinocerebellar Tract
Type I Diabetes Mellitus
Hypertrophic Cardiomyopathy
1 min
Metachromatic Leukodystrophy
Pathophysiology
Autosomal Recessive
Arylsulfatase A Deficiency
Increased Cerebroside Sulfate
Signs and Symptoms
Demyelination
Ataxia
Dementia
1 min
Krabbe Disease
Pathophysiology
Autosomal Recessive
Galactocerebrosidase Deficiency
Increased Psychosine
Signs and Symptoms
Developmental Delay
Peripheral Neuropathy
Optic Atrophy
Diagnosis
Globoid Cells
1 min
Multiple Sclerosis Symptoms and Diagnosis
Symptoms
Optic Neuritis
Internuclear Ophthalmoplegia
Scanning Speech
Urinary and Fecal Incontinence
Motor Issues (Intention Tremor, Paresis)
Numbness and Pain
Depression
Relapsing Symptoms
Diagnosis
Gold Standard = Plaques on MRI
Increased CSF Immunoglobulins (IgG)
Oligoclonal Bands
4 mins
Multiple Sclerosis Features and Mechanisms
Features
More Common in Women
Presents in 20's and 30's
Northern Europeans
Mechanism
Unknown mechanism, genetic factor
HLA-DRB1
Autoimmune Demyelination of CNS
White Matter of Brain and Spinal Cord
T Cell Mediated Inflammation
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
3 mins
Normal Pressure Hydrocephalus
Mechanism
Elderly
Idiopathic
Decreased Absorption of CSF
Ventricular Enlargement
Symptom Triad
Urinary Incontinence
Ataxia (Gait)
Cognitive Dysfunction
2 mins
Glioblastoma Multiforme
Most Common Malignant Primary Brain Tumor
Grade 4 Astrocytoma
Can Cross Corpus Callosum
Butterfly Glioma
Pseudo-palisading Tumor Cells
Areas of Necrosis and Hemorrhage
Stain Astrocytes for Glial Fibrillary Acidic Protein (GFAP)
Grave Prognosis
2 mins
Meningioma
Epidemiology
Most Common Adult Primary Brain Tumor
pathology
Benign
Originate from Arachnoid Villi
Dural Attachment
Parasagittal
Clinical Manifestations
Contralateral Leg Weakness
Seizures
Diagnosis
Psammoma Bodies
Calcifications
Increased Bone Density
3 mins
Schwannoma
Characteristics
Acoustic Schwannoma
Cranial Nerve VIII
Cerebellopontine Angle
S100 Positive
Bilateral Schwannoma in Neurofibromatosis Type 2
Tinnitus
Cranial Nerve V
Affects Corneal Reflex
2 mins
Oligodendroglioma
Slow growing tumor
Frontal lobe
Chicken Wire Pattern
Fried egg appearance
Calcifications
32 secs
Pilocytic Astrocytoma
Occurs Most Commonly in Kids
Posterior Fossa
Cerebellum
Well Circumscribed
GFAP
Rosenthal Fibers
Eosinophilic Corkscrew Fibers
1 min
Medulloblastoma
Pathophysiology
Occurs in Children
Cerebellum
Fourth Ventricle
Diagnosis
Small Blue Cells
Lots of Mitotic Figures
Homer Wright Rosettes
Signs and Symptoms
Hydrocephalus
Ataxia
Wide-based Gait
Treatment
Radiosensitive
2 mins
Ependymoma
Occur in Children
Fourth Ventricle
Hydrocephalus
Perivascular Pseudorosettes
Rod Shaped Blepharoplasts
Cauda Equina in Adults
Poor Prognosis
Neurofibromatosis Type II
2 mins
Craniopharyngioma
Hypopituitarism
Remnants of Rathke's Pouch
Tooth-enamel Like Calcification
Cholesterol Crystals
Yellow Viscous Fluid
Headache
Bitemporal Hemianopsia
1 min
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
4 mins
Hemangioblastoma
Most Often Cerebellar
Associated with Von Hippel-Lindau
Retinal Angiomas
Can Produce EPO
Secondary Polycythemia
Foamy Cells
High Vascularity
59 secs
CN VIII
Vestibulocochlear Nerve
Sensory
Hearing
Balance
55 secs
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
2 mins
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