Schilder's disease


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Related to Schilder's disease: Addison-Schilder disease

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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.