Schilder's disease

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Schilder's disease

 [shil´derz]
a subacute or chronic leukoencephalopathy of children and adolescents, closely related to adrenoleukodystrophy, with massive destruction of the white matter of the cerebral hemispheres; clinical symptoms include blindness, deafness, bilateral spasticity, and mental deterioration. Called also encephalitis periaxialis diffusa and progressive subcortical encephalopathy.

Schilder's disease

[shil′dərz]
Etymology: Paul F. Schilder, Austrian neurologist, 1886-1940
a group of progressive severe neurological diseases beginning in childhood. All are characterized by demyelination of the white matter of the brain, with muscle spasticity, optic neuritis, aphasia, deafness, adrenal insufficiency, and dementia. Many of the signs resemble those of multiple sclerosis. There is no known treatment. The cause may be viral or genetic. Also called encephalitis periaxialis diffusa, Flatau-Schilder disease, progressive subcortical encephalopathy, Schilder's encephalitis. See also adrenoleukodystrophy.

Adrenoleukodystrophy

A usually X-linked leukodystrophy in which impaired oxidation of saturated very long-chain fatty acids (VLCFAs) is associated with adrenal insufficiency—Addison's disease—neurologic impairment, and, in late-onset cases, adrenomyeloneuropathy, which primarily affects young men, causing spinal cord dysfunction, weakness and paraesthesias of the extremities.
Clinical findings Onset at age 5 and 10 with reversal of neurologic milestones, seizures, ataxia, Addison's disease, degeneration of visual and auditory function.
Molecular pathology Defect in ABCD1 on chromosome Xq28, which encodes a peroxisome membrane protein (ALDP or ABCD1) necessary for VLCFA beta-oxidation. VLCFA accumulation leads to damage to the CNS, peripheral nervous system and adrenal gland.
Prognosis Dismal. The treatment is generally symptomatic. Pilot data from gene therapy has been promising, but is still inconclusive as of mid-2011.
Popular culture Lorenzo Odone (1978–2008) was a famous ALD patient whose parents drove the creation of a concoction of fatty acids (Lorenzo's Oil, which begat the film of the same name) that is still being studied as a possible therapy for ALD.