Neuro - Pathology (Demyelinating/Dysmyelinating disorders & Adrenoleukodystrophy) Flashcards
Pg. 484-485 in First Aid 2014 Sections include: -Multiple sclerosis -Acute inflammatory demyelinating polyradiculopathy -Other demyelinating and demyelinating diseases -Adrenoleukodystrophy
What processes are occurring in multiple sclerosis?
Autoimmune inflammation and demyelination of CNS (brain and spinal cord).
What are the 5 main components of presentation that can be seen in multiple sclerosis patients?
Patients can present with (1) optic neuritis (sudden loss of vision resulting in Marcus Gunn pupils), (2) Internuclear ophthalmoplegia, (3) Hemiparesis, (4) Hemisensory symptoms, or (5) Bladder/bowl incontinence.
Describe (very briefly) the course of multiple sclerosis.
Relapsing and remiting course
In what patient population is multiple sclerosis most common? In which racial/ethnic group is multiple sclerosis more common?
Most often affects women in their 20s and 30s; More common in whites
What CSF finding characterizes multiple sclerosis?
Increased protein (IgG) in CSF. Oligoclonal bands are diagnostic.
What imaging modality is the gold standard for multiple sclerosis? What are 2 major imaging findings that may be seen?
MRI is gold standard; (1) Periventricular plaques (areas of oligodendrocyte loss and reactive gliosis) with destruction of axons. (2) Multiple white matter lesions separated in space and time
What are 3 main methods of treatment for multiple sclerosis? What are 3 additional symptomatic treatments?
(1) Beta-interferon (2) Immunosuppression (3) Natalizumab; Symptomatic treatment for (1) neurogenic bladder (catheterization, muscarinic antagonists), (2) spasticity (baclofen, GABA receptor agonist), (3) pain (opioids)
What is the most common variant of Guillain-Barre syndrome?
Acute inflammatory demyelinating polyradiculopathy.
What is Acute inflammatory demyelinating polyradiculopathy?
Autoimmune condition that destroys Schwann cells –> inflammation and demyelination of peripheral nerves and motor fibers
What are 3 categories of deficits to associate with acute inflammatory demyelinating polyradiculopathy?
(1) Results in symmetric ascending muscle weakness/paralysis beginning in lower extremities. (2) Facial paralysis in 50% of cases. (3) Autonomic function may be severely affected (e.g., cardiac irregularities, hypertension, or hypotension).
Describe the survival rate and recovery time of patients with Acute inflammatory demyelinating polyradiculopathy.
Almost all patients survive; the majority recover completely after weeks to months
What is the CSF finding associated with Acute inflammatory demyelinating polyradiculopathy? What physical sign is also found in Acute inflammatory demyelinating polyradiculopathy, and what causes it?
Findings: Increased CSF protein with normal cell count (albuminocytologic dissociation); Increased protein –> papilledema
Name 2 infections with which acute inflammatory demyelinating polyradiculopathy is associated. Explain this association.
Associated with infections (Campylobacter jejuni and CMV) –> autoimmune attack of peripheral myelin due to molecular mimicry, inoculations, and stress, but no definitive link to pathogen.
What intervention is critical until recovery of Acute inflammatory demyelinating polyradiculopathy patients? What are 2 additional treatments?
Respiratory support is critical until recovery; Additional treatment: Plasmapharesis, IV immune globulins.
What is the name of the classic triad of MS? What symptoms are included in this triad?
Charcot classic triad of MS is a SIN: Scanning speech, Intention tremor (also Incontinence and Internuclear ophthalmoplegia), Nystagmus.
What is Progressive multifocal leukoencephalopathy (PML)?
Demyelination of CNS due to destruction of oligodendrocytes.
With what pathogen is Progressive multifocal leukoencephalopathy associated?
Associated with JC virus.
In what patient population is PML seen, at what percentage of this population, and why?
Seen in 2-4% of AIDS patient (reactivation of latent viral infection)
Describe the progression and prognosis of PML.
Rapidly progressive, usually fatal.
What drug is associated with increased risk of PML?
Increased risk associated with natalizumab.
What is another name for Acute disseminated encephalomyelitis? What characterizes this condition?
Acute disseminated (postinfectious) encephalomyelitis; Multifocal perivenular inflammation and demyelination after infection (commonly measles or VZV) or certain vaccinations (e.g., rabies, smallpox)
Name 2 infections and 2 vaccines associated with Acute disseminated (postinfectious) encephalomyelitis.
Infections: (1) Measles (2) VZV; Vaccines: (1) Rabies (2) Smallpox
What kind of disease is Metachromatic leukodystrophy, and what mode of inheritance does it have? What is the most common cause of it?
Autosomal recessive lysosomal storage disease, most commonly due to arylsulfatase A deficiency
What is the underlying pathophysiology of Metachromatic leukodystrophy?
Buildup of sulfatides –> impaired production of myelin sheath
What are physical exam findings associated with metachromatic leukodystrophy?
Findings: Central and peripheral demyelination with ataxia, dementia
What is another name for Charcot-Marie-Tooth disease?
Also known as hereditary motor and sensory neuropathy (HMSN).
Define Charcot-Marie-Tooth disease.
Group of progressive hereditary nerve disorders related to the defective production of proteins involved in the structure and function of peripheral nerves or the myelin sheath.
What is the mode of inheritance of Charcot-Marie Tooth disease? What are 2 physical findings associated with it?
Typically autosomal dominant inheritance pattern and associated with scoliosis and foot deformities (high or flat arches)
What kind of disease is Krabbe disease? What is its pathogenesis?
Autosomal recessive lysosomal storage disease due to deficiency of galactocerebrosidase. Buildup of galactocerebroside and psychosine destroys myelin sheath.
What are 4 findings associated with Krabbe disease?
Findings: (1) Peripheral neuropathy (2) Developmental delay (3) Optic atrophy (4) Globoid cells
What type of disorder is Adrenoleukodystrophy, and what patient population does is typically affect?
X-linked genetic disorder typically affecting males
What is the pathogenesis of Adrenoleukodystrophy?
Disrupts metabolism of very-long-chain fatty acids –> excessive buildup in nervous system, adrenal gland, and testes
What are 2 complications to associate with the course of Adrenoleukodystrophy?
Progressive disease that can lead to long-term coma/death and adrenal gland crisis
