Scott 1-29-08 Dys And Demyelinating Syndromes

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cause of dysmyelination ?

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inborn error of metabolism

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demyelination?

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what was once myelinated, is now demyelinated

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What dystophy refers to a congenital condition in which there is a metabolic derangement causing myelin to be broken down prematurely. there are four classic syndromes :

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leukodystrophy

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four classic syndromes of leukodystrophy

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Adrenoluekodystrophy
Metochromaticleukodystrophy
Krabbe disease
Cockneye syndrome

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is an X linked disorder associated with adrenal insufficiency, retinitis pigmentosis, hepatomegaly and motor/sensory dysfunction.
It is related to an increase in long chain fatty acids, phytanic acid and trihydroxycoprostanic acid.

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Adrenoluekodystrophy—

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—autosominal recessive inherited disorder with an arylsulfatase A deficiency which are associated with a neuropathy as a predominate feature.

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Metochromaticleukodystrophy

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is usually associated with mental retardation and neuropathy

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Krabbe disease

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is associated with small stature, ataxia, retinitis pigmentosis, deafness and mental retardation.

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Cockneye syndrome

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Schilder’s Disease AKA

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Diffuse Sclerosis

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This was a syndrome in which a normal healthy child between the ages of 5 to 12 develops mental deterioration, seizures, blindness, aphasia and ataxia and spastic paralysis (tetraplegia).

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Diffuse Sclerosis

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This is actually more likely a collection of disorders of myelination including: Canavan’s Diffuse Sclerosis, Alexander’s Disease, Pelizaeus-Merzbacher Disease, MS and Leigh’s Disease.

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Diffuse Sclerosis (Schilder’s Disease)

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Both metachromatic and ___________dystrophies do present in late adolescents and early adulthood.

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adrenoleulodystrophies

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Multiple Sclerosis
Five basic types:

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Relapsing /Remitting
Primary Progressive
Secondary Progressive
Devics disease or neuromyelitis optica
Balo’s Concentric Sclerosis

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80% of pts with _____ go on to develop MS. par of the relapsing /remitting

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optic neuritis

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What disease?

Most usually a post viral syndrome with an autoimmune attack against the myelinated portions of the central nervous system.
In children this is frequently associated with chicken pox and a syndrome called opsoclonus-myoclonus

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ACUTE DISSEMINATING ENCEPHALOMYELITIS (ADEM)

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other thing that causes opsoclonus-myoclonus

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neuroblastoma:

occurs in chest or abdomen

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Prominent features of acute disseminating encephalomyelitis (ADEM)

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transverse myelitis, hemiparesis, ataxia, and encephalopathy

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Prognosis of ADEM.

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For the most part recovery is good; however some are left with significant deficits.
Treatment is supportive.

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Almost always the result of radiation therapy for the treatment of a brain tumor. However can be seen in the case of radiation exposure such as an industrial accident, or the like. Symptoms usually consist if cognitive dysfunction

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POST RADIATION NECROSIS

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Due to a papovavirus—JC virus
Used to be seen in transplant patient and those undergoing significant immunosupression for cancer.
Today often seen in the HIV patients.

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PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY (PML)

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What does PML look like clinically

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Early on presents with mild cognitive symptom which can progress to a severe dementia

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drug that seems to have caused PML during early trials

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tysabri

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Typical CNS symptoms of SLE include (

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lupus cerebritis, optic neuritis, ataxia, seizures and chorea.

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What is an autoimmune disease which is associated with other autoimmune diseases such as SLE, and RA.
Serum Anti-Ro antibodies are typically found

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Sjogren’s syndrome

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Symptoms of Sjogren's syndrome

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dry eyes and mouth secondary to destruction of lacrimal and salivary glands.
Atypical cases have been reported with optic neuritis and myelitis. This syndrome at times mimics MS.

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What is a systemic multisystem non-caseating granulomatous disorder that frequently affects the central nervous system. Symptom can be of a lapsing/remitting form including optic neuritis and myelitis.

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Sarcoidosis

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Clinical findings of Sarcoidosis

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basilar meningitis and swelling of the pituitary stalk and bitemporal hemianopsia.
Spinal cord lesions will present and appear identical to MS.
Serum ACE may not be elevated, but CSF ACE levels usually are.

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What disease:
Primarily a vasculitis with the classic description of oro-genital ulceration, uveitis, rash and joint problems.
This is also a relapsing/remitting disease with flare ups that at times may be difficult to differentiate from MS

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BEHCET’S DISEASE

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Key feature of Behcet's

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history of oro-genital ulcers excludes MS

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B-12 deficiency also called _________ causes a myelitis with gait ataxia, weakness and optic atrophy which also can be confused with MS.

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combined systems degeneration

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COMBINED SYSTEMS DEGENERATION (B-12 DEFICIENCY)

What clinical testing helps diagnose

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involves the posterior columns- early on there is a loss of vibration and position sense.

Rhomberg testing is usually positive with the gait wide and ataxic out of proportion to weakness.

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Most commonly caused by rapid correction of a chronic hyponatremia (faster than 2mmol/l/hr)

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CENTRAL PONTINE MYELINOLYSIS (CPM)

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Symptoms of CPM

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flaccid paralysis, facial and bulbar weakness, disordered eye movements and altered levels of consciousness.

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Prognosis of CPM

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Recovery can be good with prompt recognition and intervention

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This is a congenital disorder with spasticity, weakness, and ataxia.
While it is classically described in the legs it can involve the trunk and at times intercostal muscles.

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FIMILIAL SPASTIC PARAPARESIS

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Caused by a retrovirus, it is most common in tropical regions and causes a slowly progressive spinal cord syndrome which also mimics MS.

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HTLV-1 OR TROPICAL SPASTIC PARAPLEGIA

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Test for HTLV-1

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CSF will show increased HTLV-1 antibodies

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Like the familial form ____ limb involvement is rare in TROPICAL SPASTIC PARAPLEGIA

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upper